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
LRRC7	57554	broad.mit.edu	37	1	70503805	70503805	+	Silent	SNP	A	A	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:70503805A>T	ENST00000310961.5	+	22	2617	c.2199A>T	c.(2197-2199)ccA>ccT	p.P733P	LRRC7_ENST00000415775.2_Silent_p.P12P|LRRC7_ENST00000035383.5_Silent_p.P728P			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	728						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGATTGCACCATCTTTCCCAC	0.512000													31	71					0	0	0.000409698	0	0
INTS5	80789	broad.mit.edu	37	11	62416686	62416686	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:62416686G>A	ENST00000330574.2	-	2	918	c.866C>T	c.(865-867)cCc>cTc	p.P289L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	289					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGCAATCTTGGGCACCCGTTT	0.597000													13	15					0	0	0.000219431	0	0
GRTP1	79774	broad.mit.edu	37	13	113999219	113999219	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr13:113999219G>T	ENST00000375430.4	-	5	567	c.521C>A	c.(520-522)tCt>tAt	p.S174Y	GRTP1_ENST00000326039.3_Missense_Mutation_p.S96Y|GRTP1_ENST00000375431.4_Missense_Mutation_p.S174Y			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	174	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CAGCCAAAAAGATTCTTCTTC	0.353000													24	21					7.01153e-11	7.73467e-10	0.000184323	1	0
PLVAP	83483	broad.mit.edu	37	19	17476311	17476311	+	Silent	SNP	C	C	T	rs150210307		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:17476311C>T	ENST00000252590.4	-	3	1024	c.963G>A	c.(961-963)gcG>gcA	p.A321A		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	321						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTTCTGTTTCGCCTCCTGAC	0.667000													15	18					0	0	0.000219431	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480554	140480554	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:140480554G>A	ENST00000231130.2	+	1	321	c.321G>A	c.(319-321)caG>caA	p.Q107Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		107	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACATTTTCAGATATTACTGC	0.418000													32	40					0	0	0.000279167	0	0
ZNF563	147837	broad.mit.edu	37	19	12429881	12429881	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:12429881G>A	ENST00000293725.5	-	4	1163	c.958C>T	c.(958-960)Cat>Tat	p.H320Y		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTTCCAAGATGATGAAATGTT	0.438000													19	54					0	0	0.000958276	0	0
OR14A16	284532	broad.mit.edu	37	1	247978742	247978742	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:247978742G>A	ENST00000357627.1	-	1	289	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAAGACCTGGGAAACACAGCC	0.453000													10	28					0	0	0.000673444	0	0
SHANK2	22941	broad.mit.edu	37	11	70336347	70336347	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:70336347G>A	ENST00000409530.1	-	8	817	c.818C>T	c.(817-819)cCc>cTc	p.P273L	SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.P264L|SHANK2_ENST00000449833.2_Intron|SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000409161.1_Intron|SHANK2_ENST00000357171.3_Missense_Mutation_p.P274L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0	PDZ.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AAAGCCCAGGGGCAACTTCTG	0.602000													10	16					0	0	0.000442599	0	0
CPED1	79974	broad.mit.edu	37	7	120780953	120780953	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:120780953C>T	ENST00000310396.5	+	15	2239	c.1772C>T	c.(1771-1773)cCa>cTa	p.P591L	CPED1_ENST00000450913.2_Missense_Mutation_p.P591L|CPED1_ENST00000423795.1_Missense_Mutation_p.P371L	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GACTTTCATCCAAAGATCAAA	0.378000													12	35					0	0	0.000978159	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122216	43122216	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:43122216G>A	ENST00000344697.2	-	2	1053	c.708C>T	c.(706-708)ctC>ctT	p.L236L	GTDC2_ENST00000441964.1_Silent_p.L236L	NM_032806.4	NP_116195.2																					TGATCTTGGAGAGGCCCACAA	0.602000													22	33					0	0	0.000375601	0	0
R3HDM2	22864	broad.mit.edu	37	12	57660609	57660609	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:57660609G>A	ENST00000402412.1	-	19	2426	c.2036C>T	c.(2035-2037)tCt>tTt	p.S679F	RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S360F|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S665F|R3HDM2_ENST00000413953.2_Missense_Mutation_p.S392F|R3HDM2_ENST00000393811.2_Missense_Mutation_p.S392F|R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S699F|R3HDM2_ENST00000347140.3_Missense_Mutation_p.S665F			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	665	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AAACCCTACAGAAGGGCTGGG	0.567000													6	7					0	0	8.12818e-05	0	0
CPAMD8	27151	broad.mit.edu	37	19	17119350	17119350	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:17119350A>C	ENST00000443236.1	-	7	696	c.665T>G	c.(664-666)aTg>aGg	p.M222R	CPAMD8_ENST00000388925.4_Missense_Mutation_p.M175R	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	175						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCACTCTATCATCCGAGAGCC	0.527000													8	17					0	0	0.000978159	0	0
GLI4	2738	broad.mit.edu	37	8	144351607	144351607	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:144351607C>T	ENST00000340042.1	+	2	126	c.41C>T	c.(40-42)cCg>cTg	p.P14L	GLI4_ENST00000517468.1_Missense_Mutation_p.P14L|GLI4_ENST00000344692.3_Missense_Mutation_p.P14L|ZFP41_ENST00000522452.1_Intron|GLI4_ENST00000523522.1_Missense_Mutation_p.P14L|GLI4_ENST00000521682.1_Missense_Mutation_p.P14L	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	14						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CCTTCTGTCCCGTCCCCTGTC	0.592000													22	46					0	0	0.000295444	0	0
AHNAK	79026	broad.mit.edu	37	11	62294090	62294090	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:62294090G>A	ENST00000378024.4	-	5	8073	c.7799C>T	c.(7798-7800)tCt>tTt	p.S2600F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2600					nervous system development	nucleus	protein binding	p.S2600Y(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGGCAGAGAAACATCCAC	0.507000													36	92					0	0	0.00111076	0	0
CDH8	1006	broad.mit.edu	37	16	61858917	61858917	+	Splice_Site	SNP	C	C	T	rs148693252	byFrequency	TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:61858917C>T	ENST00000577390.1	-	5	1788	c.835_splice	c.e5+1	p.Q278_splice	CDH8_ENST00000299345.6_Splice_Site_p.Q278_splice|CDH8_ENST00000584337.1_Splice_Site_p.Q278_splice|CDH8_ENST00000577730.1_Splice_Site_p.Q278_splice	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	278	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTAACTTACTCTGTGCAAATT	0.373000													8	16					0	0	0.000673444	0	0
SLC7A14	57709	broad.mit.edu	37	3	170218993	170218993	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:170218993G>A	ENST00000231706.4	-	3	761	c.446C>T	c.(445-447)gCc>gTc	p.A149V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	149						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACTGGCTCCGGCCGCAGTGCC	0.557000													12	13					0	0	0.000978159	0	0
TNC	3371	broad.mit.edu	37	9	117827167	117827167	+	Silent	SNP	C	C	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr9:117827167C>A	ENST00000350763.4	-	11	3657	c.3246G>T	c.(3244-3246)gtG>gtT	p.V1082V	TNC_ENST00000340094.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Silent_p.V1082V|TNC_ENST00000346706.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000423613.2_Silent_p.V1082V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1082	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAACCTCAGTCACGGTGAGGT	0.512000													10	34					3.07112e-06	3.32531e-05	0.000978159	1	0
TRAV21	28662	broad.mit.edu	37	14	22521085	22521085	+	RNA	SNP	G	G	A	rs147548996	by1000genomes	TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:22521085G>A	ENST00000390449.3	+	0	113																											CCCAGAAGGAGAAAACTTGGT	0.478000													9	36					0	0	0.000673444	0	0
NLRP3	114548	broad.mit.edu	37	1	247587438	247587438	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:247587438G>A	ENST00000366497.2	+	4	1473	c.693G>A	c.(691-693)ggG>ggA	p.G231G	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.G231G|NLRP3_ENST00000391828.3_Silent_p.G231G|NLRP3_ENST00000336119.3_Silent_p.G231G|NLRP3_ENST00000366496.2_Silent_p.G231G|NLRP3_ENST00000391827.2_Silent_p.G231G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	231	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGGGATTGGGAAAACAATCC	0.542000													9	20					0	0	0.000274275	0	0
CHRNA3	1136	broad.mit.edu	37	15	78889060	78889060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:78889060C>T	ENST00000326828.5	-	6	1788	c.1404G>A	c.(1402-1404)tgG>tgA	p.W468*	CHRNA3_ENST00000348639.3_Intron	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	468					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAACATACTTCCAATCATCTT	0.388000													63	28					0	0	0.000781405	0	0
ANK1	286	broad.mit.edu	37	8	41543692	41543692	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:41543692G>A	ENST00000396942.1	-	36	4451	c.4368C>T	c.(4366-4368)atC>atT	p.I1456I	ANK1_ENST00000347528.4_Silent_p.I1456I|ANK1_ENST00000396945.1_Silent_p.I1456I|ANK1_ENST00000289734.7_Silent_p.I1456I|ANK1_ENST00000352337.4_Silent_p.I1456I|ANK1_ENST00000265709.8_Silent_p.I1497I|ANK1_ENST00000379758.2_Silent_p.I1456I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1456	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.I1497I(1)|p.I1456I(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCCTTCACGGATGACCCAGA	0.527000													20	22					0	0	0.000295444	0	0
OR8B4	283162	broad.mit.edu	37	11	124294282	124294282	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:124294282C>G	ENST00000356130.3	-	1	507	c.486G>C	c.(484-486)atG>atC	p.M162I		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCAGTCGCAGCATGCTTCCAG	0.542000													5	3					0	0	8.12818e-05	0	0
XPO7	23039	broad.mit.edu	37	8	21861515	21861515	+	Silent	SNP	A	A	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:21861515A>G	ENST00000434536.1	+	27	3273	c.3171A>G	c.(3169-3171)cgA>cgG	p.R1057R	XPO7_ENST00000252512.9_Silent_p.R1048R|XPO7_ENST00000433566.4_Silent_p.R1049R			Q9UIA9	XPO7_HUMAN	exportin 7	1048					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GCATCGAGCGAAATCTTCTTA	0.438000													7	18					0	0	0.000157383	0	0
BTNL8	79908	broad.mit.edu	37	5	180377475	180377475	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:180377475C>T	ENST00000340184.4	+	8	1640	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000533815.2_Silent_p.I294I|BTNL8_ENST00000505126.1_Silent_p.I271I|BTNL8_ENST00000400707.3_Silent_p.I353I|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Silent_p.I362I	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	478						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCTGCAATCCCAGAGACAA	0.512000													30	14					0	0	0.000491102	0	0
PAPD7	11044	broad.mit.edu	37	5	6748698	6748698	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:6748698C>T	ENST00000230859.6	+	8	960	c.831C>T	c.(829-831)gcC>gcT	p.A277A		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	277					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACAGAGACGCCGAAAGGTAAT	0.522000													33	82					0	0	0.000953801	0	0
PEX5L	51555	broad.mit.edu	37	3	179605529	179605529	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:179605529G>A	ENST00000467460.1	-	4	572	c.242C>T	c.(241-243)tCc>tTc	p.S81F	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.S57F|PEX5L_ENST00000485199.1_Missense_Mutation_p.S46F|PEX5L_ENST00000464614.1_Missense_Mutation_p.S38F|PEX5L_ENST00000392649.3_Missense_Mutation_p.S38F|PEX5L_ENST00000263962.8_Missense_Mutation_p.S79F|PEX5L_ENST00000476138.1_Missense_Mutation_p.S38F|PEX5L_ENST00000472994.1_Missense_Mutation_p.S22F|PEX5L_ENST00000468741.1_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	81					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GTCATCGATGGAGGGACTCAG	0.443000													46	113					0	0	0.000781405	0	0
MRPL1	65008	broad.mit.edu	37	4	78808386	78808386	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:78808386G>A	ENST00000315567.8	+	5	828	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	167							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TGCATCAGAGGTCAAAATAGC	0.323000													7	18					0	0	8.12818e-05	0	0
FMNL2	114793	broad.mit.edu	37	2	153399257	153399257	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:153399257G>A	ENST00000288670.9	+	3	573	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	69	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTGCAGGAACGATTCCAGGTG	0.418000													10	34					0	0	0.000978159	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884573	228884573	+	Missense_Mutation	SNP	C	C	T	rs148914025		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:228884573C>T	ENST00000392056.3	-	7	1043	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E333K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	333						cytoplasm	protein binding	p.E333K(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTGATTTTTCCATTTGACCT	0.428000													16	47					0	0	0.000308642	0	0
BRF1	2972	broad.mit.edu	37	14	105693013	105693013	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:105693013G>A	ENST00000546474.1	-	8	15832	c.873C>T	c.(871-873)ccC>ccT	p.P291P	BRF1_ENST00000551787.1_Silent_p.P87P|BRF1_ENST00000446501.2_Silent_p.P53P|BRF1_ENST00000392557.4_Silent_p.P87P|BRF1_ENST00000379932.4_Silent_p.P87P|BRF1_ENST00000379937.2_Silent_p.P264P|BRF1_ENST00000440513.3_Silent_p.P176P|BRF1_ENST00000327359.3_Silent_p.P176P	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	291					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TGTACGAGGGGGGGTCGCACT	0.582000													10	24					0	0	0.000442599	0	0
HPCA	3208	broad.mit.edu	37	1	33354742	33354742	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:33354742C>T	ENST00000373467.3	+	2	345	c.243C>T	c.(241-243)gaC>gaT	p.D81D	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	81	EF-hand 2.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GCACCATAGACTTTCGGGAGT	0.567000													29	46					0	0	0.000491102	0	0
PI4KA	5297	broad.mit.edu	37	22	21159290	21159290	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr22:21159290G>A	ENST00000255882.6	-	11	1418	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	PI4KA_ENST00000572273.1_Silent_p.L386L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	386					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCCACACCATGAGGTCCACAC	0.577000													20	29					0	0	0.000878237	0	0
BAGE2	85319	broad.mit.edu	37	21	11039003	11039003	+	RNA	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr21:11039003G>A	ENST00000470054.1	-	0	1200									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCTTGGTATGAAACATCTTT	0.393000													10	222					0	0	0.000442599	0	0
BFSP1	631	broad.mit.edu	37	20	17495447	17495447	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:17495447G>A	ENST00000377873.3	-	3	492	c.453C>T	c.(451-453)gcC>gcT	p.A151A	BFSP1_ENST00000536626.1_Silent_p.A12A|BFSP1_ENST00000377868.2_Silent_p.A26A|BFSP1_ENST00000473415.1_5'UTR|BFSP1_ENST00000544874.1_Silent_p.A12A	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	151	Coil 1B.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TATGCAGCAAGGCTTCATCAG	0.522000													15	60					0	0	0.000422831	0	0
DNAH7	56171	broad.mit.edu	37	2	196619217	196619217	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:196619217G>A	ENST00000312428.6	-	63	11708	c.11608C>T	c.(11608-11610)Cct>Tct	p.P3870S	DNAH7_ENST00000409063.1_Missense_Mutation_p.P353S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3870					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGACTGGAGGAGGACCAACC	0.453000													9	11					0	0	0.000978159	0	0
EPHB2	2048	broad.mit.edu	37	1	23235526	23235526	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:23235526C>T	ENST00000400191.3	+	13	2382	c.2364C>T	c.(2362-2364)atC>atT	p.I788I	EPHB2_ENST00000374627.1_Silent_p.I783I|EPHB2_ENST00000374630.3_Silent_p.I788I|EPHB2_ENST00000374632.3_Silent_p.I789I	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	788	Protein kinase.			I -> F (in Ref. 5; AAA74244).	axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCGGAAAGATCCCCATCCGCT	0.592000													9	14					0	0	0.000274275	0	0
STMN2	11075	broad.mit.edu	37	8	80553691	80553691	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:80553691C>T	ENST00000220876.7	+	3	576	c.194C>T	c.(193-195)tCa>tTa	p.S65L	STMN2_ENST00000518111.1_Missense_Mutation_p.S65L|STMN2_ENST00000518491.1_Missense_Mutation_p.S54L	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	65	Regulatory/phosphorylation domain (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			TCTCCTATCTCAGAAGCCCCA	0.458000													17	31					0	0	0.000566183	0	0
CACNA1D	776	broad.mit.edu	37	3	53694300	53694300	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:53694300C>T	ENST00000288139.3	+	5	882	c.764C>T	c.(763-765)cCc>cTc	p.P255L	CACNA1D_ENST00000350061.5_Missense_Mutation_p.P255L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P255L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	255					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCAGGAGTGCCCAGTAAGCAC	0.517000													11	21					0	0	0.00010058	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	A	rs121913500		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:209113112C>A	ENST00000415913.1	-	4	776	c.395G>T	c.(394-396)cGt>cTt	p.R132L	IDH1_ENST00000446179.1_Missense_Mutation_p.R132L|IDH1_ENST00000345146.2_Missense_Mutation_p.R132L			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								16	22					9.16793e-09	1.00504e-07	0.000566183	1	0
MEGF11	84465	broad.mit.edu	37	15	66263027	66263027	+	Splice_Site	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:66263027C>T	ENST00000409699.2	-	8	935	c.762_splice	c.e8-1	p.G255_splice	MEGF11_ENST00000360698.4_Splice_Site_p.G255_splice|MEGF11_ENST00000288745.3_Splice_Site_p.G180_splice|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000395625.2_Splice_Site_p.G180_splice|MEGF11_ENST00000422354.1_Splice_Site_p.G255_splice			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	255	EGF-like 4.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CACACTGCTCCCTAAAAGAAA	0.582000													14	7					0	0	0.000566183	0	0
RYR3	6263	broad.mit.edu	37	15	34153323	34153323	+	Silent	SNP	A	A	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:34153323A>G	ENST00000389232.4	+	102	14479	c.14409A>G	c.(14407-14409)acA>acG	p.T4803T	RP11-3D4.2_ENST00000560268.1_RNA|RYR3_ENST00000415757.3_Silent_p.T4798T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4803					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T4802T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTTTGACACAACCCCTCATG	0.383000													13	10					0	0	0.000219431	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897892	130897892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:130897892G>A	ENST00000392984.3	-	4	1785	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*	CCDC74B_ENST00000310463.6_Nonsense_Mutation_p.Q246*|CCDC74B_ENST00000409943.3_Nonsense_Mutation_p.Q180*			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	246										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CCCTGGTGCTGGCTGTTCCCC	0.612000													28	45					0	0	0.000409698	0	0
OR1I1	126370	broad.mit.edu	37	19	15198755	15198755	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:15198755G>A	ENST00000209540.2	+	1	965	c.879G>A	c.(877-879)cgG>cgA	p.R293R		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						ACAGCATACGGAACAAGGATA	0.542000													14	35					0	0	0.000422831	0	0
MUC3A	4584	broad.mit.edu	37	7	100551777	100551777	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:100551777C>T	ENST00000319509.7	+	1	528	c.528C>T	c.(526-528)atC>atT	p.I176I						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGAGCACGATCGTGTCAACAT	0.473000													89	290					0	0	0.000781405	0	0
OR1M1	125963	broad.mit.edu	37	19	9204819	9204819	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:9204819C>T	ENST00000429566.3	+	1	965	c.899C>T	c.(898-900)gCt>gTt	p.A300V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTGAAAGGGGCTCTCAGGAAG	0.512000													6	22					0	0	8.12818e-05	0	0
CFAP54	144535	broad.mit.edu	37	12	97043713	97043713	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:97043713G>A	ENST00000524981.3	+	2	88	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K				Q6ZTY8	CL063_HUMAN		4										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATGAGTGATGAAAATATGTC	0.318000													16	31					0	0	0.000132079	0	0
CNTN5	53942	broad.mit.edu	37	11	99941237	99941237	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:99941237G>A	ENST00000524871.1	+	11	1534	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	CNTN5_ENST00000527185.1_Missense_Mutation_p.G415E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G341E|CNTN5_ENST00000528682.1_Missense_Mutation_p.G415E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G415E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	415	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAGGCTACTGGAAAACCCAGA	0.473000													8	14					0	0	0.000274275	0	0
ELP5	23587	broad.mit.edu	37	17	7156241	7156241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:7156241G>T	ENST00000574993.1	+	3	377	c.160G>T	c.(160-162)Gag>Tag	p.E54*	ELP5_ENST00000356683.2_Nonsense_Mutation_p.E54*|ELP5_ENST00000354429.2_Nonsense_Mutation_p.E54*|ELP5_ENST00000574255.1_Nonsense_Mutation_p.E54*|ELP5_ENST00000396628.2_Nonsense_Mutation_p.E54*|ELP5_ENST00000396627.2_Nonsense_Mutation_p.E54*|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000573657.1_Nonsense_Mutation_p.E54*					elongator acetyltransferase complex subunit 5																		CCTTAGTGGGGAGCAAGTGCA	0.507000													6	83					0.000274275	0.0029516	0.000274275	1	0
SPTB	6710	broad.mit.edu	37	14	65252635	65252635	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:65252635G>A	ENST00000389722.3	-	16	3649	c.3596C>T	c.(3595-3597)tCc>tTc	p.S1199F	SPTB_ENST00000556626.1_Missense_Mutation_p.S1199F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1199F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1199F|SPTB_ENST00000389721.5_Missense_Mutation_p.S1199F	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1199					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.S1199C(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGCTTCCAGGGAGTCTGGGGG	0.532000													11	63					0	0	0.000219431	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123476185	123476185	+	Splice_Site	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:123476185C>T	ENST00000529750.1	+	9	1220	c.894_splice	c.e9+1	p.S298_splice	GRAMD1B_ENST00000322282.7_Splice_Site_p.S298_splice|GRAMD1B_ENST00000456860.2_Splice_Site_p.S305_splice	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	298						integral to membrane		p.S298*(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCCCCCGTCTCGGTATGGGCA	0.562000													13	48					0	0	0.000422831	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604379	31604379	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:31604379C>T	ENST00000376033.2	+	27	6162	c.5928C>T	c.(5926-5928)gcC>gcT	p.A1976A	PRRC2A_ENST00000376007.4_Silent_p.A1976A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1976	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGCTCCTGCCCAGCAGGTAT	0.522000													22	111					0	0	0.000229342	0	0
GLUD2	2747	broad.mit.edu	37	X	120182576	120182576	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrX:120182576G>A	ENST00000328078.1	+	1	1115	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	346					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTGACCCAAAGGAACTGGAAG	0.448000													20	65					0	0	0.000229342	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433940	37433940	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:37433940G>A	ENST00000374660.1	+	8	1342	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E415K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E415K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	471						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTTCCCATCAGAATCCAAACA	0.254000													11	58					0	0	0.000219431	0	0
IGSF10	285313	broad.mit.edu	37	3	151163919	151163919	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:151163919G>A	ENST00000282466.3	-	4	3849	c.3850C>T	c.(3850-3852)Cca>Tca	p.P1284S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1284					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTTTGTTGGAAGACTTCCA	0.428000													31	54					0	0	0.000409698	0	0
WDR49	151790	broad.mit.edu	37	3	167245717	167245717	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:167245717G>A	ENST00000308378.3	-	11	1744	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.S305F|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	480										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATCTCTAAGGAACTTATTCG	0.448000													19	34					0	0	0.00074312	0	0
FAT3	120114	broad.mit.edu	37	11	92087287	92087287	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:92087287C>T	ENST00000298047.6	+	1	2026	c.2009C>T	c.(2008-2010)tCa>tTa	p.S670L	FAT3_ENST00000409404.2_Missense_Mutation_p.S670L|FAT3_ENST00000525166.1_Missense_Mutation_p.S520L|FAT3_ENST00000541502.1_Missense_Mutation_p.S670L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	670	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTAACATTTCAGTCCTACAT	0.403000										TCGA Ovarian(4;0.039)			133	264					0	0	0.000781405	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800682	185800682	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:185800682C>T	ENST00000302277.6	+	4	1153	c.559C>T	c.(559-561)Cca>Tca	p.P187S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	187						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGCTGAAGATCCAGAAAGTGC	0.363000													6	22					0	0	8.12818e-05	0	0
LRRC30	339291	broad.mit.edu	37	18	7231222	7231222	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr18:7231222C>A	ENST00000383467.2	+	1	100	c.86C>A	c.(85-87)cCg>cAg	p.P29Q		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	29										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AAGTTTTCTCCGTGGGACGAT	0.612000													20	20					8.34094e-07	9.08723e-06	0.000132079	1	0
PRKCH	5583	broad.mit.edu	37	14	61789030	61789030	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:61789030G>A	ENST00000332981.5	+	1	596	c.211G>A	c.(211-213)Gag>Aag	p.E71K	RP11-902B17.1_ENST00000500036.2_RNA	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	71	C2.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GTACAACGAGGAGTTTTGCGC	0.632000													10	13					0	0	0.00010058	0	0
PTPN6	5777	broad.mit.edu	37	12	7063977	7063977	+	Silent	SNP	T	T	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:7063977T>C	ENST00000456013.1	+	4	578	c.336T>C	c.(334-336)caT>caC	p.H112H	PTPN6_ENST00000399448.1_Silent_p.H114H|PTPN6_ENST00000318974.9_Silent_p.H112H|PTPN6_ENST00000447931.2_Silent_p.H73H	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	112	SH2 2.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGTGGTACCATGGCCACATGT	0.622000													12	19					0	0	0.000151284	0	0
OR2M3	127062	broad.mit.edu	37	1	248366886	248366886	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:248366886G>A	ENST00000456743.1	+	1	555	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGTCTCGGGAAATAGCCCA	0.418000													51	88					0	0	0.000781405	0	0
ALK	238	broad.mit.edu	37	2	29432682	29432682	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:29432682C>T	ENST00000389048.3	-	25	4712	c.3806G>A	c.(3805-3807)gGa>gAa	p.G1269E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1269	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCCGAAGTCTCCAATCTTGGC	0.542000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				24	34					0	0	0.000184323	0	0
CCDC66	285331	broad.mit.edu	37	3	56605266	56605266	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:56605266C>T	ENST00000394672.3	+	7	942	c.872C>T	c.(871-873)cCt>cTt	p.P291L	CCDC66_ENST00000326595.7_Missense_Mutation_p.P257L|CCDC66_ENST00000436465.2_Missense_Mutation_p.P291L	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	291										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TGGAATGATCCTTGGAAAAAA	0.264000													26	51					0	0	0.000878237	0	0
TRIM27	5987	broad.mit.edu	37	6	28872083	28872083	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:28872083C>A	ENST00000377199.3	-	8	1662	c.1306G>T	c.(1306-1308)Gtg>Ttg	p.V436L	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	436	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						AAAATCCCCACCCGCTGGAGC	0.532000			T	RET	papillary thyroid								97	27					9.99625e-28	1.10619e-26	0.000781405	1	0
TTN	7273	broad.mit.edu	37	2	179597846	179597846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:179597846G>A	ENST00000589042.1	-	55	16281	c.16057C>T	c.(16057-16059)Cga>Tga	p.R5353*	TTN_ENST00000591111.1_Nonsense_Mutation_p.R5036*|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R4109*|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5036	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAATGTCTCGATCTGTGTGT	0.443000													9	10					0	0	0.000274275	0	0
SPTB	6710	broad.mit.edu	37	14	65252634	65252634	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:65252634G>A	ENST00000389722.3	-	16	3650	c.3597C>T	c.(3595-3597)tcC>tcT	p.S1199S	SPTB_ENST00000556626.1_Silent_p.S1199S|SPTB_ENST00000542895.1_Silent_p.S1199S|SPTB_ENST00000389720.3_Silent_p.S1199S|SPTB_ENST00000389721.5_Silent_p.S1199S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1199					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGCTTCCAGGGAGTCTGGGG	0.532000													10	62					0	0	0.000151284	0	0
CD109	135228	broad.mit.edu	37	6	74472164	74472164	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:74472164C>T	ENST00000437994.2	+	8	1247	c.816C>T	c.(814-816)tcC>tcT	p.S272S	CD109_ENST00000287097.5_Silent_p.S272S|CD109_ENST00000422508.2_Silent_p.S195S	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	272						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACCTTTATCCTTTTGGGGAA	0.289000													5	70					0	0	3.59834e-05	0	0
EPHA1	2041	broad.mit.edu	37	7	143092274	143092274	+	Splice_Site	SNP	T	T	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:143092274T>A	ENST00000275815.3	-	13	2171	c.2083_splice	c.e13-1	p.R695_splice		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	695	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGATCGGCTTTCCTGAGACAC	0.557000													38	45					0	0	0.00111076	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900554	28900554	+	RNA	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:28900554C>T	ENST00000528584.1	+	0	150					NR_036443.1																						CTCTGACGTGCCGTTACTCAG	0.572000													6	25					0	0	3.59834e-05	0	0
LRCH4	4034	broad.mit.edu	37	7	100179429	100179429	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:100179429C>T	ENST00000310300.6	-	4	621	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	190					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGTTCCTCCGGACATTGAG	0.577000													11	33					0	0	0.000151284	0	0
BRPF3	27154	broad.mit.edu	37	6	36169209	36169209	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:36169209C>T	ENST00000357641.6	+	2	1363	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	BRPF3_ENST00000534694.1_Silent_p.L370L|BRPF3_ENST00000534400.1_Silent_p.L370L|BRPF3_ENST00000443324.2_Silent_p.L370L|BRPF3_ENST00000339717.7_Silent_p.L370L|BRPF3_ENST00000543502.1_Silent_p.L370L	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	370					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AAACCAGCCTCAATGGCACCA	0.572000													33	10					0	0	0.000692331	0	0
OAS3	4940	broad.mit.edu	37	12	113386841	113386841	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:113386841C>T	ENST00000228928.7	+	6	1384	c.1205C>T	c.(1204-1206)cCg>cTg	p.P402L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	402	Linker.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCCTCTGTGCCGGGAATGGCC	0.622000													4	18					0	0	3.59834e-05	0	0
HSPA12B	116835	broad.mit.edu	37	20	3728871	3728871	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:3728871T>C	ENST00000254963.2	+	8	828	c.683T>C	c.(682-684)cTa>cCa	p.L228P	HSPA12B_ENST00000542646.1_Missense_Mutation_p.L62P	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	228							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CAGGCTGGACTAGTGTCCCGA	0.657000													13	33					0	0	0.000422831	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995730	57995730	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:57995730G>A	ENST00000316770.2	-	1	660	c.618C>T	c.(616-618)gtC>gtT	p.V206V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGATGCTCACGACATAGAGGA	0.627000													6	25					0	0	3.59834e-05	0	0
TJP3	27134	broad.mit.edu	37	19	3746033	3746033	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:3746033C>T	ENST00000541714.2	+	16	2426	c.1964C>T	c.(1963-1965)cCc>cTc	p.P655L	TJP3_ENST00000587686.1_Missense_Mutation_p.P674L|TJP3_ENST00000589378.1_Missense_Mutation_p.P664L|TJP3_ENST00000262968.9_Missense_Mutation_p.P688L|TJP3_ENST00000382008.3_Missense_Mutation_p.P669L|TJP3_ENST00000539908.2_Missense_Mutation_p.P619L	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	669	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGACAGCCCCTCCAAGATC	0.592000													4	5					0	0	0.000602214	0	0
SPINK13	153218	broad.mit.edu	37	5	147653930	147653930	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:147653930T>A	ENST00000512953.1	+	4	622	c.91T>A	c.(91-93)Ttc>Atc	p.F31I	SPINK13_ENST00000398450.4_Missense_Mutation_p.F31I|SPINK13_ENST00000511106.1_5'UTR|RP11-373N22.3_ENST00000501695.3_RNA			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	31						extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						TAAACGTGACTTCACTAGGTG	0.343000													45	96					0	0	0.000781405	0	0
LLGL2	3993	broad.mit.edu	37	17	73559526	73559526	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:73559526C>T	ENST00000392550.3	+	8	925	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	LLGL2_ENST00000577200.1_Missense_Mutation_p.R270C|LLGL2_ENST00000578363.1_Missense_Mutation_p.R270C|LLGL2_ENST00000375227.4_Missense_Mutation_p.R270C|LLGL2_ENST00000167462.5_Missense_Mutation_p.R270C	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	270					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGAGCCCCTCCGCAGCCTCGT	0.652000													10	21					0	0	0.00010058	0	0
ADAM12	8038	broad.mit.edu	37	10	127760116	127760116	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:127760116G>A	ENST00000368679.4	-	12	1571	c.1262C>T	c.(1261-1263)tCt>tTt	p.S421F	ADAM12_ENST00000368676.4_Missense_Mutation_p.S421F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	421					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCCCCCGAAAGACTCCCTGAC	0.532000													33	46					0	0	0.000491102	0	0
RPL36AL	6166	broad.mit.edu	37	14	50085802	50085802	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:50085802G>A	ENST00000298289.6	-	2	180	c.21C>T	c.(19-21)acC>acT	p.T7T		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	7					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					AGGTTCTTCGGGTTTTAGGTA	0.413000													10	53					0	0	0.000673444	0	0
EEF1A2	1917	broad.mit.edu	37	20	62121960	62121960	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:62121960C>T	ENST00000217182.3	-	6	1066	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	EEF1A2_ENST00000298049.7_Missense_Mutation_p.E301K	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	301						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GGCAGAGCTTCGCTCAGAGCC	0.622000													22	28					0	0	0.000375601	0	0
EPHB1	2047	broad.mit.edu	37	3	134670598	134670598	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:134670598G>A	ENST00000398015.3	+	3	879	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	170						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R170L(4)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTCTTACTCGGAATGGTTTT	0.463000													55	108					0	0	0.000781405	0	0
DNM3	26052	broad.mit.edu	37	1	172100389	172100389	+	Silent	SNP	C	C	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:172100389C>G	ENST00000358155.4	+	14	1796	c.1620C>G	c.(1618-1620)gtC>gtG	p.V540V	DNM3_ENST00000520906.1_Silent_p.V540V|DNM3_ENST00000367731.1_Silent_p.V540V|DNM3_ENST00000355305.5_Silent_p.V550V|DNM3_ENST00000367733.2_Silent_p.V540V	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	550	PH.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACTGGTTCGTCCTTACTGCGG	0.423000													9	24					0	0	0.000673444	0	0
KIAA1737	85457	broad.mit.edu	37	14	77579932	77579932	+	Silent	SNP	G	G	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:77579932G>T	ENST00000361786.2	+	4	788	c.471G>T	c.(469-471)ctG>ctT	p.L157L	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	157										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TGCCCATTCTGAATTCTTACA	0.478000													17	27					2.94398e-08	3.21735e-07	0.000958276	1	0
ZMYM3	9203	broad.mit.edu	37	X	70469396	70469396	+	Missense_Mutation	SNP	G	G	A	rs138633030		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrX:70469396G>A	ENST00000373998.1	-	7	2082	c.1385C>T	c.(1384-1386)aCc>aTc	p.T462I	ZMYM3_ENST00000314425.5_Missense_Mutation_p.T462I|ZMYM3_ENST00000373988.1_Missense_Mutation_p.T464I|ZMYM3_ENST00000373981.1_Missense_Mutation_p.T462I|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.T464I|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.T464I|ZMYM3_ENST00000353904.2_Missense_Mutation_p.T462I	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	462					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGGACTCCCGGTCTTGGTGTA	0.577000													4	4					0	0	0.00024832	0	0
WDR49	151790	broad.mit.edu	37	3	167246922	167246922	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:167246922G>A	ENST00000308378.3	-	10	1573	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.S248L|WDR49_ENST00000453925.2_Missense_Mutation_p.S487L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	423								p.S423W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATAATAATCGATCCAACTCC	0.363000													23	26					0	0	0.000586117	0	0
NEDD4L	23327	broad.mit.edu	37	18	55996240	55996240	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr18:55996240G>A	ENST00000456986.1	+	10	931	c.331G>A	c.(331-333)Gag>Aag	p.E111K	NEDD4L_ENST00000456173.2_Missense_Mutation_p.E111K|NEDD4L_ENST00000586263.1_Missense_Mutation_p.E224K|NEDD4L_ENST00000256832.7_Missense_Mutation_p.E111K|NEDD4L_ENST00000400345.3_Missense_Mutation_p.E232K|NEDD4L_ENST00000382850.4_Missense_Mutation_p.E232K|NEDD4L_ENST00000431212.2_Missense_Mutation_p.E111K|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.E232K|NEDD4L_ENST00000435432.2_Missense_Mutation_p.E111K|NEDD4L_ENST00000357895.5_Missense_Mutation_p.E224K|NEDD4L_ENST00000256830.9_Missense_Mutation_p.E232K	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	232					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CGTGTCCTCGGAGTCGGACAA	0.587000													8	16					0	0	0.000442599	0	0
DMTN	2039	broad.mit.edu	37	8	21938900	21938900	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:21938900A>T	ENST00000358242.3	+	16	1637	c.1144A>T	c.(1144-1146)Atg>Ttg	p.M382L	DMTN_ENST00000517600.1_Missense_Mutation_p.M342L|DMTN_ENST00000523782.2_Missense_Mutation_p.M335L|DMTN_ENST00000265800.5_Missense_Mutation_p.M382L|DMTN_ENST00000415253.1_Missense_Mutation_p.M360L|DMTN_ENST00000523266.1_Missense_Mutation_p.M382L|DMTN_ENST00000432128.1_Missense_Mutation_p.M382L|DMTN_ENST00000381470.3_Missense_Mutation_p.M360L|DMTN_ENST00000443491.2_Missense_Mutation_p.M335L|DMTN_ENST00000519907.1_Missense_Mutation_p.M360L					dematin actin binding protein																		GGTATTTGCCATGTCCCCTGA	0.602000													29	41					0	0	0.000491102	0	0
FAM110C	642273	broad.mit.edu	37	2	41615	41615	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:41615G>A	ENST00000327669.4	-	2	958	c.959C>T	c.(958-960)tCc>tTc	p.S320F	FAM110C_ENST00000460464.1_5'UTR	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	320						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		TCATCATCGGGAAGGTTTGCT	0.408000													19	32					0	0	0.000132079	0	0
NLRP13	126204	broad.mit.edu	37	19	56423937	56423937	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:56423937C>T	ENST00000588751.1	-	5	1270	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E416K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	416	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAGAGAGTTTCGTTTTTTCTT	0.463000													6	20					0	0	3.59834e-05	0	0
ITIH2	3698	broad.mit.edu	37	10	7745421	7745421	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:7745421C>T	ENST00000358415.4	+	1	190	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ITIH2_ENST00000379587.4_Silent_p.F8F|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	8					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGTGCTTTTTCATCTGCTTCT	0.428000													15	59					0	0	0.000566183	0	0
ANGPT4	51378	broad.mit.edu	37	20	858863	858863	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:858863G>A	ENST00000381922.3	-	7	1263	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	ANGPT4_ENST00000546022.1_Silent_p.G387G	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	387	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGGCCTCGTGGCCTTCCCAGT	0.622000													7	15					0	0	8.12818e-05	0	0
STAG1	10274	broad.mit.edu	37	3	136196211	136196211	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:136196211C>T	ENST00000383202.2	-	10	1202	c.946G>A	c.(946-948)Gga>Aga	p.G316R	STAG1_ENST00000434713.2_Missense_Mutation_p.G90R|STAG1_ENST00000236698.5_Missense_Mutation_p.G316R	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	316	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ATCCATACTCCAATTTCTTCA	0.343000													21	40					0	0	0.000229342	0	0
NLRP1	22861	broad.mit.edu	37	17	5461774	5461774	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:5461774C>T	ENST00000345221.3	-	4	2796	c.2242G>A	c.(2242-2244)Gac>Aac	p.D748N	NLRP1_ENST00000269280.4_Missense_Mutation_p.D748N|NLRP1_ENST00000577119.1_Missense_Mutation_p.D748N|NLRP1_ENST00000354411.3_Missense_Mutation_p.D748N|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.D748N|NLRP1_ENST00000572272.1_Missense_Mutation_p.D748N	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	748					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCTCCATGTCTGTTTCTACA	0.502000													25	55					0	0	0.000279167	0	0
GPLD1	2822	broad.mit.edu	37	6	24448238	24448238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:24448238C>T	ENST00000230036.1	-	17	1655	c.1545G>A	c.(1543-1545)tgG>tgA	p.W515*		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	515						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CCAAGAGAGTCCAGCCCAAGT	0.512000													10	96					0	0	0.000219431	0	0
PEX5L	51555	broad.mit.edu	37	3	179605528	179605528	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:179605528G>A	ENST00000467460.1	-	4	573	c.243C>T	c.(241-243)tcC>tcT	p.S81S	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Silent_p.S57S|PEX5L_ENST00000485199.1_Silent_p.S46S|PEX5L_ENST00000464614.1_Silent_p.S38S|PEX5L_ENST00000392649.3_Silent_p.S38S|PEX5L_ENST00000263962.8_Silent_p.S79S|PEX5L_ENST00000476138.1_Silent_p.S38S|PEX5L_ENST00000472994.1_Silent_p.S22S|PEX5L_ENST00000468741.1_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	81					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGTCATCGATGGAGGGACTCA	0.443000													46	117					0	0	0.000781405	0	0
TAOK3	51347	broad.mit.edu	37	12	118650786	118650786	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:118650786C>T	ENST00000392533.3	-	11	1242	c.752G>A	c.(751-753)aGg>aAg	p.R251K	TAOK3_ENST00000419821.2_Missense_Mutation_p.R251K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	251	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACAAATCTCCTAAAGGAGTC	0.363000													10	22					0	0	0.000673444	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22671127	22671127	+	RNA	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:22671127G>A	ENST00000390460.1	+	0	192																											CAGAGTACGTGATTCATGGTC	0.478000													8	26					0	0	0.000157383	0	0
CCDC178	374864	broad.mit.edu	37	18	30950152	30950152	+	Splice_Site	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr18:30950152C>T	ENST00000383096.3	-	6	392	c.208_splice	c.e6-1	p.G70_splice	CCDC178_ENST00000403303.1_Splice_Site_p.G70_splice|CCDC178_ENST00000402325.1_Splice_Site_p.G70_splice|CCDC178_ENST00000579916.1_Splice_Site_p.G70_splice|CCDC178_ENST00000583930.1_Splice_Site_p.G70_splice|CCDC178_ENST00000579947.1_Splice_Site_p.G70_splice|CCDC178_ENST00000406524.2_Splice_Site_p.G70_splice|CCDC178_ENST00000300227.8_Splice_Site_p.G70_splice					coiled-coil domain containing 178																		CTTTATTCACCCCTAAAGAGA	0.343000													7	9					0	0	8.12818e-05	0	0
SGK2	10110	broad.mit.edu	37	20	42196349	42196349	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:42196349G>A	ENST00000373100.1	+	5	591	c.131G>A	c.(130-132)gGg>gAg	p.G44E	SGK2_ENST00000423407.3_Missense_Mutation_p.G44E|SGK2_ENST00000341458.4_Missense_Mutation_p.G104E|SGK2_ENST00000373092.3_Missense_Mutation_p.G44E|SGK2_ENST00000426287.1_Missense_Mutation_p.G70E|SGK2_ENST00000373077.1_Missense_Mutation_p.G44E			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	104					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATCGGCAAAGGGAACTACGGG	0.552000													15	27					0	0	0.000566183	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515317	140515317	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:140515317C>G	ENST00000231134.5	+	1	518	c.301C>G	c.(301-303)Ccc>Gcc	p.P101A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		101	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGACAGAACCCTGTATATT	0.433000													8	55					0	0	0.000274275	0	0
CYP2C8	1558	broad.mit.edu	37	10	96798747	96798747	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:96798747C>T	ENST00000371270.3	-	8	1292	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	CYP2C8_ENST00000535898.1_Missense_Mutation_p.E298K	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	400					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTAGGAAATTCTTTGTCATCA	0.383000													19	22					0	0	0.000132079	0	0
ABCB5	340273	broad.mit.edu	37	7	20721180	20721180	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:20721180G>A	ENST00000404938.2	+	15	2412	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R142Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	142	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R142Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTATTCGAAGTGCAGAT	0.403000													9	24					0	0	0.000442599	0	0
CR2	1380	broad.mit.edu	37	1	207640158	207640158	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:207640158T>G	ENST00000367057.3	+	2	535	c.346T>G	c.(346-348)Ttt>Gtt	p.F116V	CR2_ENST00000367059.3_Missense_Mutation_p.F116V|CR2_ENST00000367058.3_Missense_Mutation_p.F116V|CR2_ENST00000458541.2_Missense_Mutation_p.F116V	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	116	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCTGTGACATTTGCCTGTAA	0.428000													8	28					0	0	0.000274275	0	0
LDLRAD4	753	broad.mit.edu	37	18	13645128	13645128	+	Silent	SNP	C	C	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr18:13645128C>A	ENST00000361205.4	+	7	1061	c.393C>A	c.(391-393)atC>atA	p.I131I	LDLRAD4_ENST00000399848.3_Silent_p.I113I|LDLRAD4_ENST00000585931.1_Silent_p.I54I|LDLRAD4_ENST00000359446.5_Silent_p.I131I|LDLRAD4_ENST00000587757.1_Silent_p.I94I|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000586765.1_Silent_p.I76I|LDLRAD4_ENST00000592991.1_Silent_p.I33I	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		CCTTCCAGATCATGCATGCCC	0.537000													11	48					7.03913e-09	7.74084e-08	0.00010058	1	0
KMT2D	8085	broad.mit.edu	37	12	49445809	49445809	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:49445809G>A	ENST00000301067.7	-	10	1656	c.1657C>T	c.(1657-1659)Cct>Tct	p.P553S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGGACAAAGGAGATTCTTCA	0.597000													26	46					0	0	0.000227799	0	0
USP34	9736	broad.mit.edu	37	2	61512070	61512070	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:61512070C>T	ENST00000398571.2	-	35	4848	c.4772G>A	c.(4771-4773)gGa>gAa	p.G1591E		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1591					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAAACTGGTTCCTTGGACAAG	0.308000													4	21					0	0	0.000602214	0	0
KIF13A	63971	broad.mit.edu	37	6	17764934	17764934	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:17764934G>T	ENST00000378814.5	-	37	4680	c.4681C>A	c.(4681-4683)Ctg>Atg	p.L1561M	KIF13A_ENST00000378843.2_Missense_Mutation_p.L1561M|KIF13A_ENST00000259711.6_Missense_Mutation_p.L1609M|KIF13A_ENST00000378826.2_Missense_Mutation_p.L1574M|KIF13A_ENST00000378816.5_Missense_Mutation_p.L1574M	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1609					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATGTCAGACAGGGTGGCATTG	0.547000													4	23					0.000602214	0.00646095	0.000602214	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204438517	204438517	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:204438517G>A	ENST00000367187.3	-	3	970	c.414C>T	c.(412-414)gtC>gtT	p.V138V	PIK3C2B_ENST00000424712.2_Silent_p.V138V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	138	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGACGAAGAGACTCCCCCAT	0.577000													10	18					0	0	0.000442599	0	0
PCDH15	65217	broad.mit.edu	37	10	55973787	55973787	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:55973787C>T	ENST00000373965.2	-	10	1401	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	PCDH15_ENST00000395438.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R299Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R314Q|PCDH15_ENST00000373957.3_Missense_Mutation_p.R314Q|PCDH15_ENST00000395440.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.R336Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R336Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R341Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R336Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R336Q	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	336	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATGGAAAAATCGTGGGTAATC	0.368000										HNSCC(58;0.16)			14	26					0	0	0.000219431	0	0
E2F8	79733	broad.mit.edu	37	11	19247016	19247016	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:19247016G>A	ENST00000527884.1	-	12	2405	c.2173C>T	c.(2173-2175)Ccc>Tcc	p.P725S	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.P725S	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	725					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCTGGATGGGAACAGGGTGG	0.552000													10	35					0	0	0.000673444	0	0
CPED1	79974	broad.mit.edu	37	7	120935554	120935554	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:120935554C>T	ENST00000310396.5	+	23	3396	c.2929C>T	c.(2929-2931)Cat>Tat	p.H977Y		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ATCAAGAAATCATATCATGGG	0.328000													11	29					0	0	0.000673444	0	0
CADM2	253559	broad.mit.edu	37	3	86010738	86010738	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:86010738G>A	ENST00000383699.3	+	8	1538	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	CADM2_ENST00000407528.2_Missense_Mutation_p.R295Q|CADM2_ENST00000405615.2_Missense_Mutation_p.R297Q	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	295	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GGTACATATCGATGTGAAGCC	0.413000													19	52					0	0	0.000958276	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342622	94342622	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:94342622T>G	ENST00000436063.2	-	2	926	c.869A>C	c.(868-870)aAa>aCa	p.K290T	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTTGTTTCTTTAAGAGATTC	0.333000													11	28					0	0	0.000673444	0	0
MIER2	54531	broad.mit.edu	37	19	326549	326549	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:326549G>A	ENST00000264819.4	-	6	553	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S181S(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGGTGTCGGAGGAGGCAG	0.592000													24	43					0	0	0.000878237	0	0
NBEAL1	65065	broad.mit.edu	37	2	203906494	203906494	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:203906494C>T	ENST00000449802.1	+	3	391	c.58C>T	c.(58-60)Cca>Tca	p.P20S	NBEAL1_ENST00000478884.1_3'UTR	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	20							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAGAAAGATCCAGATTACCT	0.338000													51	255					0	0	0.000781405	0	0
GPR61	83873	broad.mit.edu	37	1	110085718	110085718	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:110085718C>T	ENST00000527748.1	+	2	757	c.74C>T	c.(73-75)cCc>cTc	p.P25L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	25						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACCCCAGGTCCCTCTACTGCC	0.612000													14	16					0	0	0.000308642	0	0
ITIH1	3697	broad.mit.edu	37	3	52812490	52812490	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:52812490C>T	ENST00000273283.2	+	3	297	c.273C>T	c.(271-273)atC>atT	p.I91I	ITIH1_ENST00000542827.1_Silent_p.I91I	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	91	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACCTGGAAATCCCCAAGACAG	0.547000													16	36					0	0	0.000566183	0	0
XIRP2	129446	broad.mit.edu	37	2	168103996	168103996	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:168103996C>T	ENST00000409195.1	+	9	6183	c.6094C>T	c.(6094-6096)Cgt>Tgt	p.R2032C	XIRP2_ENST00000295237.9_Missense_Mutation_p.R2032C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1810C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1857					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTCATAGATCGTGAACAAAA	0.388000													7	23					0	0	8.12818e-05	0	0
ERCC1	2067	broad.mit.edu	37	19	45924637	45924637	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:45924637G>A	ENST00000300853.3	-	3	711	c.120C>T	c.(118-120)ttC>ttT	p.F40F	ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000591636.1_Silent_p.F40F|ERCC1_ENST00000589165.1_Silent_p.F40F|ERCC1_ENST00000340192.7_Silent_p.F40F|ERCC1_ENST00000013807.5_Silent_p.F40F	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	40					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		GTGTAGATCGGAATAAGGGCT	0.602000								Nucleotide excision repair (NER)					18	19					0	0	0.000566183	0	0
ABCA8	10351	broad.mit.edu	37	17	66917522	66917522	+	Splice_Site	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:66917522C>T	ENST00000269080.2	-	12	1750		c.e12+1		ABCA8_ENST00000586539.1_Splice_Site|ABCA8_ENST00000430352.2_Splice_Site	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8							integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTAGTTTGTACCTTTGGTGGG	0.378000													15	28					0	0	0.000219431	0	0
GPR98	84059	broad.mit.edu	37	5	90074263	90074263	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:90074263C>T	ENST00000405460.2	+	63	12782	c.12686C>T	c.(12685-12687)cCc>cTc	p.P4229L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4229	Calx-beta 28.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGACATTCCCGAGGAAAAA	0.438000													4	10					0	0	0.000602214	0	0
PLXND1	23129	broad.mit.edu	37	3	129302425	129302425	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:129302425G>A	ENST00000393239.1	-	8	2404	c.2226C>T	c.(2224-2226)gcC>gcT	p.A742A	PLXND1_ENST00000324093.4_Silent_p.A742A			Q9Y4D7	PLXD1_HUMAN	plexin D1	742					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGTTTGGTGAGGCCTCGCACC	0.542000													4	17					0	0	0.000602214	0	0
KCNV1	27012	broad.mit.edu	37	8	110980770	110980770	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:110980770G>A	ENST00000524391.1	-	4	2082	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	KCNV1_ENST00000297404.1_Silent_p.L350L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	350						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATAGAAATAGGAGCAGTAGGC	0.458000													12	24					0	0	0.000151284	0	0
USH2A	7399	broad.mit.edu	37	1	215848794	215848794	+	Silent	SNP	G	G	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:215848794G>T	ENST00000366943.2	-	63	12845	c.12459C>A	c.(12457-12459)gcC>gcA	p.A4153A	USH2A_ENST00000307340.3_Silent_p.A4153A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4153					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGTCTGGAGGGGCTTCATCTG	0.557000										HNSCC(13;0.011)			12	27					3.07112e-06	3.32531e-05	0.000978159	1	0
AHNAK	79026	broad.mit.edu	37	11	62284753	62284753	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:62284753G>A	ENST00000378024.4	-	5	17410	c.17136C>T	c.(17134-17136)atC>atT	p.I5712I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5712					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCATTTTGATCTTGGACT	0.473000													32	51					0	0	0.000692331	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195936284	195936284	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:195936284C>T	ENST00000296326.3	-	3	450	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	124						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GTGGTAAGTCCGGGGCGGGCG	0.657000													3	2					0	0	6.4e-05	0	0
SBNO2	22904	broad.mit.edu	37	19	1119085	1119085	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:1119085G>A	ENST00000361757.3	-	14	1689	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S	SBNO2_ENST00000587024.1_Silent_p.S484S|SBNO2_ENST00000438103.2_Silent_p.S427S	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	484					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGACGCCGGAGAAGCTGA	0.682000													3	4					0	0	0.00024832	0	0
DNAH8	1769	broad.mit.edu	37	6	38834641	38834641	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:38834641C>T	ENST00000359357.3	+	45	6285	c.6031C>T	c.(6031-6033)Ctt>Ttt	p.L2011F	DNAH8_ENST00000441566.1_Intron|DNAH8_ENST00000449981.2_Missense_Mutation_p.L2228F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAAGAGCAACTTACTAAACA	0.323000													37	7					0	0	0.000814825	0	0
MACF1	23499	broad.mit.edu	37	1	39788666	39788666	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:39788666C>T	ENST00000564288.1	+	33	4999	c.4222C>T	c.(4222-4224)Ctg>Ttg	p.L1408L	MACF1_ENST00000361689.2_Silent_p.L1413L|MACF1_ENST00000545844.1_Silent_p.L1413L|MACF1_ENST00000539005.1_Silent_p.L1413L|MACF1_ENST00000372915.3_Silent_p.L1413L|MACF1_ENST00000317713.7_Silent_p.L1413L|MACF1_ENST00000567887.1_Silent_p.L1445L|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1413					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTCCGGCGTCTGGAGGAGGA	0.483000													27	53					0	0	0.000878237	0	0
RTEL1	51750	broad.mit.edu	37	20	62326551	62326551	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:62326551T>C	ENST00000318100.4	+	33	4303	c.3476T>C	c.(3475-3477)cTt>cCt	p.L1159P	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.L1159P|RTEL1_ENST00000360203.5_Missense_Mutation_p.L1159P|RTEL1_ENST00000508582.2_Missense_Mutation_p.L1183P|RTEL1_ENST00000370018.3_Missense_Mutation_p.L1159P|RTEL1_ENST00000370003.1_Missense_Mutation_p.L404P			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	1159					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCTCCTGTGCTTACCCACAGG	0.697000													5	14					0	0	0.000602214	0	0
SUOX	6821	broad.mit.edu	37	12	56397658	56397658	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:56397658C>T	ENST00000394109.3	+	3	1209	c.485C>T	c.(484-486)cCt>cTt	p.P162L	SUOX_ENST00000356124.4_Missense_Mutation_p.P162L|SUOX_ENST00000266971.3_Missense_Mutation_p.P162L|SUOX_ENST00000548274.1_Missense_Mutation_p.P162L|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000394115.2_Missense_Mutation_p.P162L			P51687	SUOX_HUMAN	sulfite oxidase	162						mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GAGCTGAATCCTGAAGACAAG	0.567000													16	28					0	0	0.000958276	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588661	140588661	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:140588661C>T	ENST00000239450.2	+	1	371	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGTCTTCGCGGGGGGCT	0.507000													28	69					0	0	0.000409698	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174275	207174275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:207174275C>T	ENST00000374423.3	+	5	5409	c.5023C>T	c.(5023-5025)Cga>Tga	p.R1675*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1675							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CACTTCTCATCGAACGACTCA	0.408000													25	22					0	0	0.000878237	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266125	41266125	+	Missense_Mutation	SNP	C	C	T	rs121913413		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:41266125C>T	ENST00000349496.5	+	3	402	c.122C>T	c.(121-123)aCc>aTc	p.T41I	CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41I|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41I|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41I|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34I	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41I(74)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41N(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A39_T42del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGTGCCACTACCACAGCTCCT	0.507000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				12	25					0	0	0.00010058	0	0
RFX6	222546	broad.mit.edu	37	6	117203570	117203570	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:117203570T>C	ENST00000332958.2	+	4	561	c.545T>C	c.(544-546)cTt>cCt	p.L182P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	182					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACAAGGCGGCTTGGAACAAGA	0.393000													5	7					0	0	8.12818e-05	0	0
CCDC147	159686	broad.mit.edu	37	10	106152112	106152112	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:106152112C>T	ENST00000369704.3	+	10	1621	c.1487C>T	c.(1486-1488)tCa>tTa	p.S496L		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	496			S -> T (in dbSNP:rs11192036).							NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCTGTGAGATCAGACAGAAAT	0.299000													20	30					0	0	0.000295444	0	0
ECD	11319	broad.mit.edu	37	10	74916361	74916361	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:74916361G>A	ENST00000372979.4	-	4	582	c.376C>T	c.(376-378)Cct>Tct	p.P126S	ECD_ENST00000454759.1_Missense_Mutation_p.P126S|ECD_ENST00000430082.1_Missense_Mutation_p.P126S	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	126					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AGCCATTTAGGGAGAAAGTCA	0.338000													35	65					0	0	0.000509022	0	0
MALT1	10892	broad.mit.edu	37	18	56376661	56376661	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr18:56376661C>T	ENST00000348428.3	+	5	959	c.701C>T	c.(700-702)aCt>aTt	p.T234I	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.T234I	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	234	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GTTGAACCAACTTCCCAAAAG	0.358000			T	BIRC3	MALT								18	38					0	0	0.000229342	0	0
FRMD4B	23150	broad.mit.edu	37	3	69245538	69245538	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:69245538G>A	ENST00000542259.1	-	15	1391	c.940C>T	c.(940-942)Cct>Tct	p.P314S	FRMD4B_ENST00000478263.1_Missense_Mutation_p.P20S|FRMD4B_ENST00000398540.3_Missense_Mutation_p.P368S			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	368	FERM.					cytoplasm|cytoskeleton	binding	p.P314S(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGGCTGAAGGAATTTTTGCC	0.363000													28	43					0	0	0.000184323	0	0
LETM1	3954	broad.mit.edu	37	4	1843299	1843299	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:1843299G>A	ENST00000302787.2	-	3	665	c.369C>T	c.(367-369)tcC>tcT	p.S123S		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	123					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			AGGACTTGAGGGACTTCTCTA	0.612000													8	24					0	0	0.000157383	0	0
SPZ1	84654	broad.mit.edu	37	5	79616184	79616184	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:79616184C>T	ENST00000296739.4	+	1	395	c.150C>T	c.(148-150)ctC>ctT	p.L50L		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GGGGCTCTCTCCCTTTCCTAA	0.388000													36	73					0	0	0.000228196	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073094	15073094	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:15073094C>T	ENST00000598504.1	-	8	2014	c.655G>A	c.(655-657)Gag>Aag	p.E219K	SLC1A6_ENST00000600144.1_Missense_Mutation_p.E219K|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E219K|SLC1A6_ENST00000430939.2_Missense_Mutation_p.E155K|SLC1A6_ENST00000544886.2_Missense_Mutation_p.E219K	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	219					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCACCCGGCTCAGACCCGTTC	0.552000													27	69					0	0	0.000339439	0	0
GPR6	2830	broad.mit.edu	37	6	110300536	110300536	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:110300536C>T	ENST00000414000.2	+	3	505	c.266C>T	c.(265-267)cCg>cTg	p.P89L	GPR6_ENST00000275169.3_Missense_Mutation_p.P74L			P46095	GPR6_HUMAN	G protein-coupled receptor 6	74						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCGGTGAATCCGTGGGACGTG	0.692000													11	31					0	0	0.000151284	0	0
STMN2	11075	broad.mit.edu	37	8	80553689	80553689	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:80553689C>T	ENST00000220876.7	+	3	574	c.192C>T	c.(190-192)atC>atT	p.I64I	STMN2_ENST00000518111.1_Silent_p.I64I|STMN2_ENST00000518491.1_Silent_p.I53I	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	64	Regulatory/phosphorylation domain (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CATCTCCTATCTCAGAAGCCC	0.458000													15	32					0	0	0.000308642	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964028	7964028	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:7964028G>A	ENST00000306708.6	+	3	722	c.621G>A	c.(619-621)ctG>ctA	p.L207L	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	207						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AGAAAGTGCTGGCGGAACCGG	0.622000													4	24					0	0	0.00024832	0	0
MYH7	4625	broad.mit.edu	37	14	23893208	23893208	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:23893208C>T	ENST00000355349.3	-	23	2992	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	944					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CACTCATCTTCCAGCTTGCGC	0.517000													22	45					0	0	0.000295444	0	0
BRF1	2972	broad.mit.edu	37	14	105693012	105693012	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:105693012G>A	ENST00000546474.1	-	8	15833	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	BRF1_ENST00000551787.1_Missense_Mutation_p.P88S|BRF1_ENST00000446501.2_Missense_Mutation_p.P54S|BRF1_ENST00000392557.4_Missense_Mutation_p.P88S|BRF1_ENST00000379932.4_Missense_Mutation_p.P88S|BRF1_ENST00000379937.2_Missense_Mutation_p.P265S|BRF1_ENST00000440513.3_Missense_Mutation_p.P177S|BRF1_ENST00000327359.3_Missense_Mutation_p.P177S	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	292					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GTGTACGAGGGGGGGTCGCAC	0.582000													10	23					0	0	0.000442599	0	0
AKR1A1	10327	broad.mit.edu	37	1	46034238	46034238	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:46034238C>T	ENST00000372070.3	+	7	1381	c.634C>T	c.(634-636)Cct>Tct	p.P212S	AKR1A1_ENST00000351829.4_Missense_Mutation_p.P212S	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	212					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TGCTTATAGCCCTTTGGGCTC	0.537000													12	18					0	0	0.00010058	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931072	157931072	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:157931072C>T	ENST00000389413.3	-	7	1149	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	PTPRN2_ENST00000389418.4_Missense_Mutation_p.R349Q|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R332Q|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R311Q|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R372Q	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	349						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGGCTGCCTCGAGCTACTCC	0.672000													11	33					0	0	0.000673444	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095234	69095234	+	Splice_Site	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:69095234C>T	ENST00000332644.5	-	8	848	c.686_splice	c.e8-1	p.K229_splice		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	229	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AATTATTTTTCCTAGAGGACA	0.323000													7	19					0	0	8.12818e-05	0	0
PCDH15	65217	broad.mit.edu	37	10	55591154	55591154	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:55591154C>T	ENST00000373965.2	-	31	4538	c.4144G>A	c.(4144-4146)Ggg>Agg	p.G1382R	PCDH15_ENST00000395438.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1338R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1375R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1353R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1375R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1375R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1304R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1380R|PCDH15_ENST00000409834.1_Missense_Mutation_p.G986R|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1382R|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1375					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACAAGGCCCCTTCTGTGTAT	0.493000										HNSCC(58;0.16)			8	42					0	0	0.000442599	0	0
CABP4	57010	broad.mit.edu	37	11	67223182	67223182	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:67223182C>T	ENST00000325656.5	+	1	365	c.288C>T	c.(286-288)tcC>tcT	p.S96S	CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	96					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTCGCCAGTCCCACCGACATC	0.682000													3	11					0	0	0.00024832	0	0
COL5A1	1289	broad.mit.edu	37	9	137717717	137717717	+	Silent	SNP	G	G	A	rs148006741		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr9:137717717G>A	ENST00000371817.3	+	63	5448	c.5034G>A	c.(5032-5034)tcG>tcA	p.S1678S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1678	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGGGGGTCGACATGCGTCT	0.592000													7	20					0	0	0.000274275	0	0
MUC4	4585	broad.mit.edu	37	3	195481174	195481174	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:195481174C>T	ENST00000463781.3	-	19	15697	c.15238G>A	c.(15238-15240)Gag>Aag	p.E5080K	MUC4_ENST00000349607.4_Missense_Mutation_p.E793K|MUC4_ENST00000346145.4_Missense_Mutation_p.E844K|MUC4_ENST00000475231.1_Missense_Mutation_p.E5028K	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1837					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGCACGGCTCCTCACAGGCA	0.692000													11	29					0	0	0.000978159	0	0
OR4X2	119764	broad.mit.edu	37	11	48267238	48267238	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:48267238G>A	ENST00000302329.3	+	1	631	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTGCCAATGGAGGCACCCT	0.498000													42	75					0	0	0.000437636	0	0
CSMD2	114784	broad.mit.edu	37	1	34191090	34191090	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:34191090C>T	ENST00000373381.4	-	17	2731	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	812	CUB 5.					integral to membrane|plasma membrane	protein binding	p.R812Q(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAGTAAGTCCGCCCATCGCG	0.502000													16	23					0	0	0.00074312	0	0
PKP3	11187	broad.mit.edu	37	11	397006	397006	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:397006G>A	ENST00000331563.2	+	3	581	c.505G>A	c.(505-507)Ggg>Agg	p.G169R		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	169					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAGCGCGGTGGGGTTGGGAG	0.721000													4	17					0	0	0.000602214	0	0
DST	667	broad.mit.edu	37	6	56391321	56391321	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:56391321G>A	ENST00000370754.5	-	69	17873	c.17874C>T	c.(17872-17874)tcC>tcT	p.S5958S	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.S5780S|DST_ENST00000361203.3_Silent_p.S5669S|DST_ENST00000421834.2_Silent_p.S3692S|DST_ENST00000370788.2_Silent_p.S3583S|DST_ENST00000446842.2_Silent_p.S5454S|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Silent_p.S3366S			Q03001	DYST_HUMAN	dystonin	5778					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)			CTTCATTAAGGGAGTCCAGTA	0.418000													31	243					0	0	0.00111076	0	0
HGF	3082	broad.mit.edu	37	7	81388076	81388076	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:81388076G>A	ENST00000222390.5	-	3	525	c.299C>T	c.(298-300)cCc>cTc	p.P100L	HGF_ENST00000453018.1_5'UTR|HGF_ENST00000444829.2_Missense_Mutation_p.P100L|HGF_ENST00000457544.2_Missense_Mutation_p.P100L|HGF_ENST00000354224.6_Missense_Mutation_p.P100L|HGF_ENST00000453411.1_Missense_Mutation_p.P100L|HGF_ENST00000423064.2_Missense_Mutation_p.P100L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	100	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCTATTGAAGGGGAACCAGAG	0.318000													40	61					0	0	0.000509022	0	0
DENND5A	23258	broad.mit.edu	37	11	9225804	9225804	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:9225804G>A	ENST00000328194.3	-	4	672	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	DENND5A_ENST00000530044.1_Missense_Mutation_p.H118Y	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	118	UDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATAAAGGCATGGAATTGGGGC	0.493000													11	29					0	0	0.000978159	0	0
ANKRD42	338699	broad.mit.edu	37	11	82922398	82922398	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:82922398G>A	ENST00000393389.3	+	5	1444	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	ANKRD42_ENST00000526731.1_Missense_Mutation_p.R171Q|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R171Q|ANKRD42_ENST00000393392.2_Missense_Mutation_p.R143Q|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R170Q|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R171Q|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R58Q			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	143										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTTCATGGGCGGCTTGGCTGC	0.408000													30	40					0	0	0.000279167	0	0
C7orf62	219557	broad.mit.edu	37	7	88423705	88423705	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:88423705G>A	ENST00000297203.2	-	2	737	c.552C>T	c.(550-552)taC>taT	p.Y184Y	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	184										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTGGCAAAGGTAGAGTGACA	0.423000													32	85					0	0	0.000339439	0	0
LYZL6	57151	broad.mit.edu	37	17	34263770	34263770	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:34263770C>T	ENST00000585556.1	-	4	700	c.366G>A	c.(364-366)ggG>ggA	p.G122G	LYZL6_ENST00000293274.4_Silent_p.G122G|LYZL6_ENST00000394523.3_Silent_p.G122G			O75951	LYZL6_HUMAN	lysozyme-like 6	122					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTTGTTCATCCCCCGTGCTC	0.572000													29	46					0	0	0.00058488	0	0
AFF1	4299	broad.mit.edu	37	4	88052237	88052237	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:88052237G>A	ENST00000307808.6	+	16	3366	c.2946G>A	c.(2944-2946)acG>acA	p.T982T	AFF1_ENST00000544085.1_Silent_p.T620T|AFF1_ENST00000395146.4_Silent_p.T989T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	982						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCTGCAGACGGACAGGGTTG	0.458000													25	29					0	0	0.000227799	0	0
DIDO1	11083	broad.mit.edu	37	20	61542327	61542327	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:61542327A>G	ENST00000266070.4	-	3	963	c.638T>C	c.(637-639)cTg>cCg	p.L213P	DIDO1_ENST00000395335.2_Missense_Mutation_p.L213P|DIDO1_ENST00000370371.4_Missense_Mutation_p.L213P|DIDO1_ENST00000266071.5_Missense_Mutation_p.L213P|DIDO1_ENST00000370366.1_Missense_Mutation_p.L213P|DIDO1_ENST00000370368.1_Missense_Mutation_p.L213P|DIDO1_ENST00000395343.1_Missense_Mutation_p.L213P|DIDO1_ENST00000395340.1_Missense_Mutation_p.L213P|DIDO1_ENST00000354665.4_Missense_Mutation_p.L213P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	213					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTACTGGGCAGGACGCCCTC	0.632000													12	29					0	0	0.000151284	0	0
CELSR2	1952	broad.mit.edu	37	1	109812152	109812152	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:109812152C>T	ENST00000271332.3	+	21	6980	c.6919C>T	c.(6919-6921)Cgc>Tgc	p.R2307C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2307					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGTGCAGTTCCGCCTGCTGGA	0.612000													92	186					0	0	0.000781405	0	0
CSMD1	64478	broad.mit.edu	37	8	3000081	3000081	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:3000081G>A	ENST00000520002.1	-	42	6705	c.6150C>T	c.(6148-6150)ctC>ctT	p.L2050L	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Silent_p.L2049L|CSMD1_ENST00000539096.1_Silent_p.L2049L|CSMD1_ENST00000400186.3_Silent_p.L2050L|CSMD1_ENST00000602557.1_Silent_p.L2050L|CSMD1_ENST00000542608.1_Silent_p.L2049L|CSMD1_ENST00000602723.1_Silent_p.L2050L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2050	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGCCGCGGGGAGATCCGTGC	0.463000													34	46					0	0	0.00058488	0	0
ACSM4	341392	broad.mit.edu	37	12	7479638	7479638	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:7479638G>A	ENST00000399422.4	+	12	1651	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	535					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATTAACTCTTGAACTTCAGGA	0.378000													7	13					0	0	0.000157383	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296553	28296553	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr21:28296553C>T	ENST00000284987.5	-	8	2733	c.2612G>A	c.(2611-2613)gGa>gAa	p.G871E	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	871	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGTGTGTGATCCCACTTTATT	0.522000													25	45					0	0	0.000878237	0	0
DES	1674	broad.mit.edu	37	2	220286118	220286118	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:220286118C>T	ENST00000373960.3	+	6	1166	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	360	Coil 2B.|Rod.		A -> P (in MFM1; heterozygous with Ile- 391 gives a severe childhood-onset; unable to form a filamentous network; abolishes binding to MTM1).|Missing (in MFM1).		cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCAGTGAGGCCAGTGGCTACC	0.597000													12	22					0	0	0.000978159	0	0
DXO	1797	broad.mit.edu	37	6	31937781	31937781	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:31937781C>A	ENST00000375349.3	-	7	1475	c.1064G>T	c.(1063-1065)tGg>tTg	p.W355L	DOM3Z_ENST00000375356.3_Missense_Mutation_p.W355L|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_Missense_Mutation_p.W355L			O77932	DOM3Z_HUMAN		355							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						GCCAGGCTCCCAAGAGAAGAG	0.587000													9	501					0.000274275	0.0029516	0.000274275	1	0
PAPSS2	9060	broad.mit.edu	37	10	89472847	89472847	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:89472847G>A	ENST00000361175.4	+	3	530	c.161G>A	c.(160-162)gGa>gAa	p.G54E	PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Missense_Mutation_p.G54E|PAPSS2_ENST00000427144.2_Missense_Mutation_p.G58E	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	54					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TCTGGTGCTGGAAAAACAACG	0.428000													40	55					0	0	0.000781405	0	0
KLHL13	90293	broad.mit.edu	37	X	117043528	117043528	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrX:117043528C>T	ENST00000371876.1	-	4	3370	c.949G>A	c.(949-951)Gag>Aag	p.E317K	KLHL13_ENST00000371882.1_Missense_Mutation_p.E317K|KLHL13_ENST00000469946.1_Missense_Mutation_p.E317K|KLHL13_ENST00000539496.1_Missense_Mutation_p.E371K|KLHL13_ENST00000371878.1_Missense_Mutation_p.E317K|KLHL13_ENST00000262820.3_Missense_Mutation_p.E368K|KLHL13_ENST00000545703.1_Missense_Mutation_p.E326K|KLHL13_ENST00000541812.1_Missense_Mutation_p.E352K|KLHL13_ENST00000540167.1_Missense_Mutation_p.E352K			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	368					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GATTTCCACTCATGGGCCTTT	0.493000													19	19					0	0	0.000229342	0	0
DDX43	55510	broad.mit.edu	37	6	74111671	74111671	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:74111671A>G	ENST00000370336.4	+	4	684	c.526A>G	c.(526-528)Att>Gtt	p.I176V	DDX43_ENST00000539829.1_Missense_Mutation_p.I176V	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	176						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTGGGATCAAATTAGAGAGGA	0.373000													95	39					0	0	0.000781405	0	0
CLCNKA	1187	broad.mit.edu	37	1	16356500	16356500	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:16356500C>T	ENST00000375692.1	+	15	1466	c.1338C>T	c.(1336-1338)gtC>gtT	p.V446V	CLCNKA_ENST00000331433.4_Silent_p.V446V|CLCNKA_ENST00000420078.1_Silent_p.V446V|CLCNKA_ENST00000439316.2_Silent_p.V403V|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	446					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTCTTGCCGTCGCCTTCCCTG	0.672000													16	13					0	0	0.000229342	0	0
AKAP13	11214	broad.mit.edu	37	15	86283477	86283477	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:86283477C>T	ENST00000394518.2	+	34	7677	c.7582C>T	c.(7582-7584)Ctc>Ttc	p.L2528F	AKAP13_ENST00000361243.2_Missense_Mutation_p.L2532F|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.L773F	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2528	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CGTTGTTCATCTCTACGAGCT	0.473000													72	30					0	0	0.000781405	0	0
CACNA1A	773	broad.mit.edu	37	19	13397745	13397745	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:13397745G>A	ENST00000360228.5	-	20	3124	c.3125C>T	c.(3124-3126)cCc>cTc	p.P1042L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P1043L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1043					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.P1043H(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGACAGGTTGGGGCCCGACAC	0.552000													14	20					0	0	0.000422831	0	0
USP32	84669	broad.mit.edu	37	17	58329766	58329766	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:58329766G>A	ENST00000300896.4	-	11	1306	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L	USP32_ENST00000592339.1_Missense_Mutation_p.P41L|USP32_ENST00000393003.3_Missense_Mutation_p.P371L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	371	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTCTTCTTCCGGAGTAGCTGG	0.323000													13	18					0	0	0.000308642	0	0
KIF2B	84643	broad.mit.edu	37	17	51900848	51900848	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:51900848G>A	ENST00000268919.4	+	1	610	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	152					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGCCTCTGGGAAATCCAGAA	0.562000													24	39					0	0	0.000586117	0	0
LRRC3	81543	broad.mit.edu	37	21	45877008	45877008	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr21:45877008A>G	ENST00000291592.4	+	2	798	c.481A>G	c.(481-483)Aag>Gag	p.K161E		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	161						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GTGGGAGCTGAAGCTGGACCC	0.647000													7	18					0	0	8.12818e-05	0	0
CATSPER4	378807	broad.mit.edu	37	1	26526463	26526463	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:26526463C>T	ENST00000456354.2	+	7	968	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	301					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCATCAACCTGTTCGTCAT	0.512000													9	17					0	0	0.000673444	0	0
HEATR5B	54497	broad.mit.edu	37	2	37283665	37283665	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:37283665G>A	ENST00000233099.5	-	16	2412	c.2317C>T	c.(2317-2319)Ccc>Tcc	p.P773S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.P773S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	773							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGAGGGAGGGGACCAGGTACT	0.478000													12	40					0	0	0.000151284	0	0
ACSL1	2180	broad.mit.edu	37	4	185698108	185698108	+	Silent	SNP	A	A	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:185698108A>G	ENST00000515030.1	-	6	832	c.507T>C	c.(505-507)gcT>gcC	p.A169A	ACSL1_ENST00000513317.1_Silent_p.A169A|ACSL1_ENST00000281455.2_Silent_p.A169A|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000504900.1_Silent_p.A169A|ACSL1_ENST00000507295.1_Silent_p.A135A|ACSL1_ENST00000504342.1_Silent_p.A169A|ACSL1_ENST00000454703.2_5'UTR			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	169					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCATCGAATAAGCAAAGCATC	0.393000													11	17					0	0	0.000151284	0	0
INO80	54617	broad.mit.edu	37	15	41371979	41371979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:41371979C>A	ENST00000361937.3	-	9	1475	c.1051G>T	c.(1051-1053)Gag>Tag	p.E351*	INO80_ENST00000401393.3_Nonsense_Mutation_p.E351*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	351	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	p.E351*(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCTACTTTCTCATATTTCTTC	0.532000													11	454					0.000673444	0.00720319	0.000673444	1	0
SHROOM3	57619	broad.mit.edu	37	4	77660429	77660429	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:77660429C>T	ENST00000296043.6	+	5	2056	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	368					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGCCCCAGTTCCTTGGAGACT	0.607000													14	23					0	0	0.000566183	0	0
SERPING1	710	broad.mit.edu	37	11	57369545	57369545	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:57369545C>G	ENST00000403558.1	+	3	1056	c.690C>G	c.(688-690)atC>atG	p.I230M	SERPING1_ENST00000340687.6_Missense_Mutation_p.I196M|SERPING1_ENST00000278407.4_Missense_Mutation_p.I196M|SERPING1_ENST00000378323.4_Missense_Mutation_p.I201M|SERPING1_ENST00000378324.2_Missense_Mutation_p.I144M|SERPING1_ENST00000531605.1_3'UTR	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	196					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TGGAGAGCATCCTCTCTTACC	0.552000													7	18					0	0	0.000157383	0	0
NOTCH4	4855	broad.mit.edu	37	6	32168976	32168976	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:32168976C>T	ENST00000375023.3	-	22	4195	c.4057G>A	c.(4057-4059)Gga>Aga	p.G1353R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1353					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCCCGAGTTCCTCCTAGCTTT	0.602000													22	316					0	0	0.000295444	0	0
NAA25	80018	broad.mit.edu	37	12	112481497	112481497	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:112481497G>A	ENST00000261745.4	-	18	2430	c.2182C>T	c.(2182-2184)Cgt>Tgt	p.R728C		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	728						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AGGAGCAAACGAAGAATATCA	0.468000													14	61					0	0	0.000219431	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986550	11986550	+	RNA	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:11986550C>T	ENST00000434078.2	+	0	608					NR_027425.1																						GCAGGTATTTCCCATATTCTG	0.552000													12	16					0	0	0.000151284	0	0
SPAG17	200162	broad.mit.edu	37	1	118584660	118584660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:118584660C>T	ENST00000336338.5	-	21	2885	c.2820G>A	c.(2818-2820)tgG>tgA	p.W940*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	940						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCTCTTCTTTCCATGCCTGTA	0.338000													36	56					0	0	0.000692331	0	0
SLC2A11	66035	broad.mit.edu	37	22	24226868	24226868	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr22:24226868C>T	ENST00000345044.6	+	12	1591	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	SLC2A11_ENST00000398356.2_Silent_p.F448F|AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000316185.8_Silent_p.F444F			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	441						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						ATGTCCCTTTCCTTGGTGTCT	0.512000													35	60					0	0	0.000692331	0	0
DNAH3	55567	broad.mit.edu	37	16	20946803	20946803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:20946803C>T	ENST00000261383.3	-	61	11863	c.11864G>A	c.(11863-11865)tGg>tAg	p.W3955*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3955					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.W3955L(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGTCAATCCATTCCTGGAG	0.383000													6	20					0	0	3.59834e-05	0	0
ZNF560	147741	broad.mit.edu	37	19	9578233	9578233	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:9578233C>T	ENST00000301480.4	-	10	1603	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTCCCATATTCCTTATGCTCA	0.403000													45	193					0	0	0.000781405	0	0
ZDHHC11	79844	broad.mit.edu	37	5	837498	837498	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:837498C>T	ENST00000283441.8	-	6	1265	c.882G>A	c.(880-882)atG>atA	p.M294I	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.M294I	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	294						integral to membrane	acyltransferase activity|zinc ion binding	p.M294I(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTCCTTTGTCCATTTGCACGT	0.483000													31	56					0	0	0.000409698	0	0
RGPD4	285190	broad.mit.edu	37	2	108487716	108487716	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:108487716A>T	ENST00000408999.3	+	20	3333	c.3256A>T	c.(3256-3258)Aaa>Taa	p.K1086*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.K1086*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1086	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGGGAACTTAAAAATTCTCAA	0.393000													69	207					0	0	0.000781405	0	0
DIDO1	11083	broad.mit.edu	37	20	61512461	61512461	+	Missense_Mutation	SNP	G	G	A	rs140993487	by1000genomes	TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:61512461G>A	ENST00000266070.4	-	16	5172	c.4847C>T	c.(4846-4848)tCt>tTt	p.S1616F	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1616F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1616					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCAGGGGGAAGAGGCTGGCTC	0.711000													6	9					0	0	8.12818e-05	0	0
CYP19A1	1588	broad.mit.edu	37	15	51519994	51519994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:51519994G>A	ENST00000396402.1	-	4	586	c.433C>T	c.(433-435)Cga>Tga	p.R145*	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Nonsense_Mutation_p.R145*|CYP19A1_ENST00000557858.1_Nonsense_Mutation_p.R145*|CYP19A1_ENST00000260433.2_Nonsense_Mutation_p.R145*|CYP19A1_ENST00000396404.4_Nonsense_Mutation_p.R145*|CYP19A1_ENST00000405913.3_Nonsense_Mutation_p.R145*	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	145					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	AAGAAGGGTCGAGTTGTTTTC	0.363000													68	34					0	0	0.000781405	0	0
SLC6A2	6530	broad.mit.edu	37	16	55732385	55732385	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:55732385G>A	ENST00000379906.2	+	10	1649	c.1394G>A	c.(1393-1395)gGa>gAa	p.G465E	SLC6A2_ENST00000561820.1_Missense_Mutation_p.G465E|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G465E|SLC6A2_ENST00000219833.8_Missense_Mutation_p.G465E|SLC6A2_ENST00000567238.1_Missense_Mutation_p.G360E|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G465E|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G420E	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	465					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGCCAGGGTGGAATTTACGTC	0.527000													20	13					0	0	0.000175454	0	0
YBX3	8531	broad.mit.edu	37	12	10865878	10865878	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:10865878G>A	ENST00000228251.4	-	5	705	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	YBX3_ENST00000279550.7_Missense_Mutation_p.R169C	NM_003651.4	NP_003642.3			Y box binding protein 3																		GCAGCGTAACGACTCCCTTCC	0.502000													17	64					0	0	0.000422831	0	0
ANKMY1	51281	broad.mit.edu	37	2	241452226	241452226	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:241452226G>A	ENST00000391987.1	-	10	2237	c.1871C>T	c.(1870-1872)cCc>cTc	p.P624L	ANKMY1_ENST00000373318.2_Missense_Mutation_p.P483L|ANKMY1_ENST00000403283.1_Missense_Mutation_p.P562L|ANKMY1_ENST00000361678.4_Missense_Mutation_p.P483L|ANKMY1_ENST00000406958.1_Missense_Mutation_p.P385L|ANKMY1_ENST00000272972.3_Missense_Mutation_p.P624L|ANKMY1_ENST00000401804.1_Missense_Mutation_p.P713L|ANKMY1_ENST00000373320.4_Missense_Mutation_p.P394L			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	624							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CACCTTGCCGGGCTTGTAAGT	0.612000													5	6					0	0	0.000157383	0	0
PPARG	5468	broad.mit.edu	37	3	12393094	12393094	+	Translation_Start_Site	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:12393094G>A	ENST00000287820.6	+	1	124	c.3G>A	c.(1-3)atG>atA	p.M1I	PPARG_ENST00000397010.2_Intron|PPARG_ENST00000397026.2_Intron|PPARG_ENST00000309576.6_Intron|PPARG_ENST00000397015.2_Intron|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Intron|PPARG_ENST00000397000.1_Intron	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	1					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	ATGCTGTTATGGGTGAAACTC	0.393000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						93	198					0	0	0.000781405	0	0
SCN10A	6336	broad.mit.edu	37	3	38748782	38748782	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:38748782G>A	ENST00000449082.2	-	25	4373	c.4374C>T	c.(4372-4374)atC>atT	p.I1458I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1458					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGGCCGTGGGATGGGCTTCT	0.557000													30	70					0	0	0.000814825	0	0
TNRC6A	27327	broad.mit.edu	37	16	24817563	24817563	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:24817563A>G	ENST00000395799.3	+	16	4417	c.4288A>G	c.(4288-4290)Aga>Gga	p.R1430G	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1381G	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1430					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCAGAGTCAGAGAAGCGTGCC	0.502000													11	28					0	0	0.00010058	0	0
TSEN54	283989	broad.mit.edu	37	17	73517849	73517849	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:73517849C>T	ENST00000333213.6	+	8	723	c.687C>T	c.(685-687)tcC>tcT	p.S229S		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	229					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCAGCCTCCAGCCCACCTC	0.622000													5	9					0	0	8.12818e-05	0	0
CD163	9332	broad.mit.edu	37	12	7640276	7640276	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:7640276G>A	ENST00000396620.3	-	7	1913	c.1828C>T	c.(1828-1830)Ctt>Ttt	p.L610F	CD163_ENST00000541972.1_Intron|CD163_ENST00000359156.4_Intron|CD163_ENST00000432237.2_Intron			Q86VB7	C163A_HUMAN	CD163 molecule	579	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TATCCTGGAAGGAGACAGGGC	0.488000													9	42					0	0	0.000442599	0	0
LEPR	3953	broad.mit.edu	37	1	66064414	66064414	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:66064414G>A	ENST00000349533.6	+	8	1106	c.921G>A	c.(919-921)caG>caA	p.Q307Q	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.Q307Q|LEPR_ENST00000371060.3_Silent_p.Q307Q|LEPR_ENST00000344610.8_Silent_p.Q307Q|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Silent_p.Q307Q	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	307	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGAGGTTCAGGTGAGGGGCA	0.443000													15	34					0	0	0.000308642	0	0
A1CF	29974	broad.mit.edu	37	10	52610476	52610476	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:52610476T>G	ENST00000395489.2	-	5	423	c.27A>C	c.(25-27)aaA>aaC	p.K9N	A1CF_ENST00000373995.3_Missense_Mutation_p.K24N|A1CF_ENST00000374001.1_Intron|A1CF_ENST00000282641.2_Intron|A1CF_ENST00000373997.3_Intron|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373993.1_Intron	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	0					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TATTTCCTTTTTTGAGGCCAG	0.438000													16	68					0	0	0.00074312	0	0
AP4B1	10717	broad.mit.edu	37	1	114442652	114442652	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:114442652G>A	ENST00000369569.1	-	5	1268	c.988C>T	c.(988-990)Cta>Tta	p.L330L	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.L162L|AP4B1_ENST00000369566.3_Silent_p.L237L|AP4B1_ENST00000256658.4_Silent_p.L330L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	330					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTTCTGTAGTTTGATGTAG	0.483000													83	144					0	0	0.000781405	0	0
BTK	695	broad.mit.edu	37	X	100615596	100615596	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrX:100615596C>T	ENST00000308731.7	-	8	899	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	BTK_ENST00000372880.1_Missense_Mutation_p.E246K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	246	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAGTTGCTTTCCTCCAAGATA	0.473000									Agammaglobulinemia, X-linked				34	23					0	0	0.00058488	0	0
MMP14	4323	broad.mit.edu	37	14	23311622	23311622	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:23311622C>T	ENST00000311852.6	+	4	645	c.384C>T	c.(382-384)atC>atT	p.I128I	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	128						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		ACCTCAGCATCCAGAATTACA	0.612000													6	5					0	0	3.59834e-05	0	0
GRIA4	2893	broad.mit.edu	37	11	105782607	105782607	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:105782607G>A	ENST00000393125.2	+	11	1765	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000393127.2_Intron|GRIA4_ENST00000525187.1_Intron|GRIA4_ENST00000428631.2_Silent_p.L425L|GRIA4_ENST00000282499.5_Intron	NM_001077244.1	NP_001070712.1	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	0					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TTCAGCCTCTGATGAAGAATC	0.328000													21	24					0	0	0.000295444	0	0
MORC1	27136	broad.mit.edu	37	3	108677833	108677833	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:108677833A>C	ENST00000232603.5	-	28	3016	c.2934T>G	c.(2932-2934)aaT>aaG	p.N978K	MORC1_ENST00000483760.1_Missense_Mutation_p.N957K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	978					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						aagtcttttcatttttttcta	0.259000													9	13					0	0	0.000274275	0	0
HGF	3082	broad.mit.edu	37	7	81381436	81381436	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:81381436C>T	ENST00000423064.2	-	5	758	c.625G>A	c.(625-627)Ggt>Agt	p.G209S	HGF_ENST00000444829.2_Splice_Site_p.V209_splice|HGF_ENST00000457544.2_Splice_Site_p.V204_splice|HGF_ENST00000453411.1_Splice_Site_p.V204_splice|HGF_ENST00000222390.5_Splice_Site_p.V209_splice	NM_001010934.1	NP_001010934.1	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	0					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTTTATTTACCTTCTGAACAC	0.443000													6	36					0	0	0.000157383	0	0
NTSR1	4923	broad.mit.edu	37	20	61386080	61386080	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:61386080C>T	ENST00000370501.3	+	2	1129	c.758C>T	c.(757-759)tCg>tTg	p.S253L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	253						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GTGGTCATCTCGGTCCTGAAC	0.607000													23	73					0	0	0.000375601	0	0
RRP36	88745	broad.mit.edu	37	6	42996894	42996894	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:42996894G>A	ENST00000244496.5	+	7	718	c.708G>A	c.(706-708)gaG>gaA	p.E236E		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	236					ribosomal small subunit biogenesis|rRNA processing	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						AGAAATTGGAGAACTTCTTGA	0.478000													180	51					0	0	0.000781405	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43968180	43968180	+	Silent	SNP	C	C	T	rs113125573		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:43968180C>T	ENST00000282406.4	+	21	3329	c.3219C>T	c.(3217-3219)tcC>tcT	p.S1073S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1073	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATGCAGATTCCAGGTGTGCAG	0.488000													20	52					0	0	0.000229342	0	0
COL4A5	1287	broad.mit.edu	37	X	107783035	107783035	+	Splice_Site	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrX:107783035G>A	ENST00000328300.6	+	2	385	c.141_splice	c.e2+1	p.K47_splice	COL4A5_ENST00000361603.2_Splice_Site_p.K47_splice	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	47	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAGGGGAAAAGGTGAGGTCTT	0.333000									Alport syndrome with Diffuse Leiomyomatosis				23	27					0	0	0.000878237	0	0
GRM7	2917	broad.mit.edu	37	3	7188320	7188320	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:7188320G>A	ENST00000486284.1	+	2	975	c.701G>A	c.(700-702)gGt>gAt	p.G234D	GRM7_ENST00000357716.4_Missense_Mutation_p.G234D|GRM7_ENST00000403881.1_Missense_Mutation_p.G234D|GRM7_ENST00000389336.4_Missense_Mutation_p.G234D|GRM7_ENST00000402647.2_Missense_Mutation_p.G234D	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	234					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGAGAGAAAGGTGTGGAGTCC	0.498000													11	32					0	0	0.000151284	0	0
TRRAP	8295	broad.mit.edu	37	7	98581893	98581893	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:98581893C>T	ENST00000359863.4	+	60	9421	c.9212C>T	c.(9211-9213)cCt>cTt	p.P3071L	TRRAP_ENST00000446306.3_Missense_Mutation_p.P3042L|TRRAP_ENST00000355540.3_Missense_Mutation_p.P3042L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3071	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAACTGTTCCTATCGTGGAT	0.478000													28	63					0	0	0.000184323	0	0
SH2B1	25970	broad.mit.edu	37	16	28878039	28878039	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:28878039C>T	ENST00000337120.5	+	1	3915	c.624C>T	c.(622-624)acC>acT	p.T208T	SH2B1_ENST00000359285.5_Silent_p.T208T|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Silent_p.T208T|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000322610.8_Silent_p.T208T	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	208	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGGCTGGGACCGTTGGTAGGG	0.637000													9	16					0	0	0.000274275	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143447	61143447	+	RNA	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:61143447C>T	ENST00000475015.1	-	0	891				C20orf166-AS1_ENST00000412495.1_RNA																							GGACCCTCACCTTGACTGTGT	0.657000													14	23					0	0	0.000151284	0	0
ZEB2	9839	broad.mit.edu	37	2	145147101	145147101	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:145147101G>A	ENST00000558170.2	-	10	4746	c.3562C>T	c.(3562-3564)Cac>Tac	p.H1188Y	ZEB2_ENST00000409487.3_Missense_Mutation_p.H1188Y|ZEB2_ENST00000303660.4_Missense_Mutation_p.H1188Y|ZEB2_ENST00000539609.3_Missense_Mutation_p.H1164Y	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1188	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCATGGAGTGATCTCCAGTC	0.438000													71	90					0	0	0.000781405	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69009419	69009419	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:69009419G>A	ENST00000295381.3	+	3	735	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E99K|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E106K|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.E99K|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E99K|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.E80K|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E106K	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	106	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAACCCAGAAGAAGCTGGGAA	0.443000													19	57					0	0	0.000295444	0	0
CCDC63	160762	broad.mit.edu	37	12	111311717	111311717	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:111311717C>T	ENST00000308208.5	+	5	683	c.441C>T	c.(439-441)ccC>ccT	p.P147P	CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Silent_p.P107P|CCDC63_ENST00000552694.1_Silent_p.P68P	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	147										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						CCAATAACCCCCGGAAACTGC	0.418000													48	76					0	0	0.000781405	0	0
LIPA	3988	broad.mit.edu	37	10	90986655	90986655	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:90986655T>A	ENST00000336233.5	-	5	857	c.535A>T	c.(535-537)Ata>Tta	p.I179L	LIPA_ENST00000371837.1_Missense_Mutation_p.I123L|LIPA_ENST00000456827.1_Missense_Mutation_p.I179L			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	179					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TACATACCTATAGTGGTGCCT	0.313000													18	22					0	0	0.000958276	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22866942	22866942	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:22866942T>A	ENST00000283645.4	+	18	2589	c.2459T>A	c.(2458-2460)aTt>aAt	p.I820N	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.I820N	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	820					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TGTCAAAAAATTTATAATCAA	0.303000													10	82					0	0	0.000673444	0	0
BTNL8	79908	broad.mit.edu	37	5	180377476	180377476	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:180377476C>T	ENST00000340184.4	+	8	1641	c.1435C>T	c.(1435-1437)Cca>Tca	p.P479S	BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.P295S|BTNL8_ENST00000505126.1_Missense_Mutation_p.P272S|BTNL8_ENST00000400707.3_Missense_Mutation_p.P354S|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.P363S	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	479						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTGCAATCCCAGAGACAAG	0.512000													30	14					0	0	0.000491102	0	0
DAK	26007	broad.mit.edu	37	11	61113373	61113373	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:61113373G>A	ENST00000394900.3	+	17	1759	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	510	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AAGCCTGGAAGAGCCCAGGAG	0.617000													17	27					0	0	0.000958276	0	0
LAMB4	22798	broad.mit.edu	37	7	107708485	107708485	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:107708485C>T	ENST00000388781.3	-	19	2505	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	LAMB4_ENST00000205386.4_Missense_Mutation_p.D808N|LAMB4_ENST00000388780.3_Missense_Mutation_p.D808N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	808	Laminin EGF-like 6.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCCCCAAATCATAGCTTCCA	0.552000													49	154					0	0	0.000781405	0	0
CEP250	11190	broad.mit.edu	37	20	34091513	34091513	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:34091513C>T	ENST00000397527.1	+	30	6036	c.5316C>T	c.(5314-5316)ctC>ctT	p.L1772L	CEP250_ENST00000342580.4_Silent_p.L1716L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1772	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCAGCCTCCTCCTGTCCCAGC	0.572000													19	36					0	0	0.00074312	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883978	228883978	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:228883978C>T	ENST00000392056.3	-	7	1638	c.1592G>A	c.(1591-1593)gGg>gAg	p.G531E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G531E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	531						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACCACTGCTCCCTGGGGGAAA	0.512000													9	27					0	0	0.000274275	0	0
GMDS	2762	broad.mit.edu	37	6	1961196	1961196	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:1961196G>A	ENST00000380815.4	-	5	619	c.350C>T	c.(349-351)tCc>tTc	p.S117F	GMDS_ENST00000530927.1_Missense_Mutation_p.S87F	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	117					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GAGGTCAAAGGAAATCTGGAA	0.468000													23	8					0	0	0.000229342	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310803	75310803	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:75310803C>T	ENST00000361900.6	+	7	647	c.440C>T	c.(439-441)tCg>tTg	p.S147L	SCAMP5_ENST00000568081.1_Missense_Mutation_p.S80L|SCAMP5_ENST00000562212.1_Missense_Mutation_p.S155L|SCAMP5_ENST00000545456.1_Missense_Mutation_p.S76L|SCAMP5_ENST00000425597.3_Missense_Mutation_p.S147L	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	147					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						AACATTGGCTCGGCGGTGGTG	0.582000													51	219					0	0	0.000781405	0	0
AUP1	550	broad.mit.edu	37	2	74754932	74754932	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:74754932G>A	ENST00000377526.3	-	8	1081	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	324						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GGAGTGAGCCGTGTCCCTGTC	0.532000													38	61					0	0	0.000270559	0	0
IPO5	3843	broad.mit.edu	37	13	98658579	98658579	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr13:98658579G>A	ENST00000261574.5	+	17	1927	c.1747G>A	c.(1747-1749)Ggt>Agt	p.G583S	IPO5_ENST00000539640.1_Missense_Mutation_p.G440S|IPO5_ENST00000490680.1_Missense_Mutation_p.G565S|IPO5_ENST00000493492.2_3'UTR	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	565					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TAGCCTCATTGGTCTGGCTGT	0.353000													5	7					0	0	0.000602214	0	0
GRINA	2907	broad.mit.edu	37	8	145065397	145065397	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:145065397C>T	ENST00000313269.5	+	2	284	c.6C>T	c.(4-6)tcC>tcT	p.S2S	GRINA_ENST00000395068.4_Silent_p.S2S	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	2						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCCATGTCCCATGAAAAGA	0.617000													15	34					0	0	0.00074312	0	0
PLIN4	729359	broad.mit.edu	37	19	4513645	4513645	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:4513645C>T	ENST00000301286.3	-	3	284	c.285G>A	c.(283-285)ggG>ggA	p.G95G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	95	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CGCTGGCCACCCCGGAGGACA	0.627000													3	3					0	0	6.4e-05	0	0
RYR1	6261	broad.mit.edu	37	19	39023320	39023320	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:39023320C>T	ENST00000355481.4	+	77	11319	c.11188C>T	c.(11188-11190)Ctg>Ttg	p.L3730L	RYR1_ENST00000360985.3_Silent_p.L3735L|RYR1_ENST00000359596.3_Silent_p.L3735L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3735					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGCTGCCACCTGGAGGAGGG	0.617000													9	29					0	0	0.000978159	0	0
PRLR	5618	broad.mit.edu	37	5	35084616	35084616	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:35084616C>T	ENST00000382002.5	-	5	755	c.329G>A	c.(328-330)gGa>gAa	p.G110E	PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.G110E|PRLR_ENST00000513753.1_Missense_Mutation_p.G110E|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.G39E|PRLR_ENST00000348262.3_Missense_Mutation_p.G110E|PRLR_ENST00000310101.5_Missense_Mutation_p.G110E|PRLR_ENST00000231423.3_Missense_Mutation_p.G110E	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	110	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GAAACTGCTTCCCATCTGGTT	0.468000													41	79					0	0	0.000781405	0	0
MAP2K1	5604	broad.mit.edu	37	15	66727455	66727455	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:66727455G>T	ENST00000307102.5	+	2	702	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	57					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K57N(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTACCCAGAAGCAGAAGGTGG	0.542000													129	81					2.27795e-59	2.52874e-58	0.000781405	1	0
C2orf40	84417	broad.mit.edu	37	2	106694260	106694260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:106694260C>T	ENST00000409944.1	+	5	448	c.217C>T	c.(217-219)Cga>Tga	p.R73*	C2orf40_ENST00000238044.3_Nonsense_Mutation_p.R109*			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	109						extracellular region|transport vesicle		p.R109R(1)		lung(7)|urinary_tract(1)	8						TAACAGAGATCGAAATGGACA	0.453000													22	29					0	0	0.000878237	0	0
BCL9	607	broad.mit.edu	37	1	147094242	147094242	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:147094242T>A	ENST00000234739.3	+	9	3813	c.3073T>A	c.(3073-3075)Tac>Aac	p.Y1025N		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1025	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CACCCCGTTATACCATGATGC	0.483000			T	"""IGH@, IGL@"""	B-ALL								27	64					0	0	0.000720815	0	0
GCN1L1	10985	broad.mit.edu	37	12	120595818	120595818	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:120595818G>A	ENST00000300648.6	-	26	2934	c.2922C>T	c.(2920-2922)tcC>tcT	p.S974S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	974					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCTGGCGCGGACAAGGGCG	0.582000													16	32					0	0	0.000422831	0	0
FLG2	388698	broad.mit.edu	37	1	152327138	152327138	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:152327138C>T	ENST00000388718.5	-	3	3196	c.3124G>A	c.(3124-3126)Gga>Aga	p.G1042R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1042	Ser-rich.						calcium ion binding|structural molecule activity	p.G1042*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCTGATCCATGTTGTCCA	0.488000													61	126					0	0	0.000781405	0	0
FXR2	9513	broad.mit.edu	37	17	7496150	7496150	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:7496150C>T	ENST00000250113.7	-	14	1925	c.1591G>A	c.(1591-1593)Gtt>Att	p.V531I		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	531						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCTGAATCAACCGGGGGCTCT	0.612000													18	30					0	0	0.000175454	0	0
ZDBF2	57683	broad.mit.edu	37	2	207146584	207146584	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:207146584G>A	ENST00000374423.3	+	3	397	c.11G>A	c.(10-12)aGa>aAa	p.R4K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	4							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATGCAGAAAAGACAAGGATAT	0.338000													12	29					0	0	0.000566183	0	0
ERGIC1	57222	broad.mit.edu	37	5	172362241	172362241	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:172362241C>T	ENST00000393784.3	+	9	832	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	231					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAATCTGGTTCCGCTACGACC	0.582000													9	28					0	0	0.000673444	0	0
NFIX	4784	broad.mit.edu	37	19	13136080	13136080	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:13136080C>T	ENST00000358552.3	+	1	270	c.270C>T	c.(268-270)ttC>ttT	p.F90F	NFIX_ENST00000592199.1_Silent_p.F91F|NFIX_ENST00000360105.4_Silent_p.F94F|NFIX_ENST00000588228.1_Silent_p.F44F|NFIX_ENST00000397661.2_Silent_p.F91F|NFIX_ENST00000585575.1_Silent_p.F83F|NFIX_ENST00000587260.1_Silent_p.F90F|NFIX_ENST00000587760.1_Silent_p.F83F			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	91					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GCGAGGACTTCGTGCTGACCA	0.652000													10	19					0	0	0.000978159	0	0
FXR2	9513	broad.mit.edu	37	17	7496151	7496151	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:7496151C>T	ENST00000250113.7	-	14	1924	c.1590G>A	c.(1588-1590)ccG>ccA	p.P530P		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	530						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTGAATCAACCGGGGGCTCTG	0.617000													19	31					0	0	0.000229342	0	0
MPP7	143098	broad.mit.edu	37	10	28420578	28420578	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:28420578C>T	ENST00000337532.5	-	7	634	c.358G>A	c.(358-360)Gac>Aac	p.D120N	MPP7_ENST00000445954.2_5'UTR|MPP7_ENST00000375732.1_Missense_Mutation_p.D120N|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Missense_Mutation_p.D120N|MPP7_ENST00000540098.1_Missense_Mutation_p.D120N	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	120	L27 2.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AACACTGGGTCGTAATTCTTC	0.358000													33	24					0	0	0.000953801	0	0
CHD8	57680	broad.mit.edu	37	14	21861911	21861911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:21861911G>A	ENST00000399982.2	-	31	6107	c.6043C>T	c.(6043-6045)Cag>Tag	p.Q2015*	CHD8_ENST00000557364.1_Nonsense_Mutation_p.Q2015*|CHD8_ENST00000430710.3_Nonsense_Mutation_p.Q1736*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2015					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGGGGACCTGGGTAGCTGTC	0.582000													7	6					0	0	0.000157383	0	0
ITGAD	3681	broad.mit.edu	37	16	31425822	31425822	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:31425822C>T	ENST00000389202.2	+	17	2096	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	683					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCAGGTCGTCTGACTTCTCG	0.473000													69	142					0	0	0.000781405	0	0
FER1L6	654463	broad.mit.edu	37	8	125076649	125076649	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr8:125076649C>T	ENST00000522917.1	+	26	3596	c.3390C>T	c.(3388-3390)ccC>ccT	p.P1130P	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.P1130P	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1130						integral to membrane		p.P1130P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCAGGATCCCCCAGCAGATC	0.572000													41	75					0	0	0.000781405	0	0
ITIH1	3697	broad.mit.edu	37	3	52812491	52812491	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:52812491C>T	ENST00000273283.2	+	3	298	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	ITIH1_ENST00000542827.1_Missense_Mutation_p.P92S	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	92	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCTGGAAATCCCCAAGACAGC	0.552000													14	36					0	0	0.000308642	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874255	24874255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:24874255G>A	ENST00000396432.2	-	26	5449	c.4963C>T	c.(4963-4965)Cga>Tga	p.R1655*		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1654	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGTTTTCCTCGGAAAAGCCTC	0.502000													4	37					0	0	0.000157383	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769433	140769433	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:140769433T>C	ENST00000519479.1	+	1	1982	c.1982T>C	c.(1981-1983)gTc>gCc	p.V661A	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCACCTGGTCTTCGCCGAC	0.657000													8	46					0	0	0.000274275	0	0
CACNA1D	776	broad.mit.edu	37	3	53694301	53694301	+	Splice_Site	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:53694301C>T	ENST00000288139.3	+	5	883	c.766_splice	c.e5+1	p.P255_splice	CACNA1D_ENST00000350061.5_Splice_Site_p.P255_splice|CACNA1D_ENST00000422281.2_Splice_Site_p.P255_splice	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	255					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAGGAGTGCCCAGTAAGCACT	0.512000													10	20					0	0	0.000978159	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719562	162719562	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:162719562G>A	ENST00000375514.5	+	7	1076	c.789G>A	c.(787-789)atG>atA	p.M263I	SLC4A10_ENST00000446997.1_Missense_Mutation_p.M252I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.M252I|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.M252I|SLC4A10_ENST00000415876.2_Missense_Mutation_p.M252I|SLC4A10_ENST00000535165.1_Missense_Mutation_p.M252I	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	252					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAAATTCCATGGACAAAAATG	0.338000													4	18					0	0	0.00024832	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602710	96602710	+	Missense_Mutation	SNP	G	G	A	rs144036596	byFrequency	TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:96602710G>A	ENST00000371321.3	+	7	1160	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	360					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGATACATCGACCTCATCCC	0.537000													24	32					0	0	0.000586117	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518179	85518179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr12:85518179C>T	ENST00000393217.2	+	17	3950	c.3889C>T	c.(3889-3891)Cag>Tag	p.Q1297*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1297										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATTAGTATGTCAGAAGAGAGA	0.408000													51	115					0	0	0.000781405	0	0
CUL9	23113	broad.mit.edu	37	6	43181465	43181465	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:43181465C>T	ENST00000252050.4	+	29	5587	c.5503C>T	c.(5503-5505)Cat>Tat	p.H1835Y	CUL9_ENST00000354495.3_Missense_Mutation_p.H1725Y|CUL9_ENST00000372647.2_Intron|CUL9_ENST00000502937.1_3'UTR	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1835				Missing (in Ref. 3; CAH18696).	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTGCGGCTTCATGAGCCTGG	0.612000													13	90					0	0	0.000308642	0	0
MOV10L1	54456	broad.mit.edu	37	22	50582642	50582642	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr22:50582642C>T	ENST00000262794.5	+	18	2558	c.2475C>T	c.(2473-2475)gtC>gtT	p.V825V	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.V825V|MOV10L1_ENST00000545383.1_Silent_p.V825V|MOV10L1_ENST00000540615.1_Silent_p.V805V	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	825					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCACCATGGTCCGGGTGAACG	0.617000													12	23					0	0	0.000978159	0	0
CPLX4	339302	broad.mit.edu	37	18	56985686	56985686	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr18:56985686G>A	ENST00000299721.3	-	1	195	c.9C>T	c.(7-9)ttC>ttT	p.F3F	CPLX4_ENST00000587244.1_Silent_p.F3F	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	3					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TTTTCATAAGGAAAGCCATTT	0.363000													17	20					0	0	0.000422831	0	0
FGFR4	2264	broad.mit.edu	37	5	176517623	176517623	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:176517623C>T	ENST00000292408.4	+	3	569	c.324C>T	c.(322-324)atC>atT	p.I108I	FGFR4_ENST00000292410.3_Silent_p.I108I|FGFR4_ENST00000393637.1_Silent_p.I108I|FGFR4_ENST00000502906.1_Silent_p.I108I|FGFR4_ENST00000393648.2_Silent_p.I108I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	108	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GCTCCATGATCGTCCTGCAGA	0.597000										TSP Lung(9;0.080)			7	16					0	0	8.12818e-05	0	0
OR51I1	390063	broad.mit.edu	37	11	5462628	5462628	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:5462628G>A	ENST00000380211.1	-	1	116	c.117C>T	c.(115-117)atC>atT	p.I39I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACAATGGAGATCATGTAGA	0.522000													10	37					0	0	0.000673444	0	0
RAD54L2	23132	broad.mit.edu	37	3	51679118	51679118	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:51679118T>G	ENST00000409535.1	+	16	2654	c.2529T>G	c.(2527-2529)gaT>gaG	p.D843E	RAD54L2_ENST00000296477.3_Missense_Mutation_p.D537E	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	843	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTTGCCATGATGCCCAGGCAG	0.483000													15	48					0	0	0.000566183	0	0
CSHL1	1444	broad.mit.edu	37	17	61987583	61987583	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr17:61987583G>A	ENST00000450719.3	-	3	365	c.128C>T	c.(127-129)tCg>tTg	p.S43L	CSHL1_ENST00000309894.5_Missense_Mutation_p.S137L|CSHL1_ENST00000259003.10_Missense_Mutation_p.S75L|CSHL1_ENST00000346606.6_Missense_Mutation_p.S43L|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000561003.1_Missense_Mutation_p.S54L|CSHL1_ENST00000438387.2_Missense_Mutation_p.S54L|CSHL1_ENST00000392824.4_3'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	137						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATCGCTGTCCGAGGTGTCATA	0.582000													14	20					0	0	0.000958276	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600066	3600066	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:3600066G>A	ENST00000375190.4	-	2	960	c.567C>T	c.(565-567)gcC>gcT	p.A189A	TBXA2R_ENST00000587717.1_5'UTR|TBXA2R_ENST00000411851.3_Silent_p.A189A|TBXA2R_ENST00000589966.1_Intron	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	189					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCCCGGACTCGGCGCCCAGCG	0.711000													5	16					0	0	0.000274275	0	0
AGBL1	123624	broad.mit.edu	37	15	87089299	87089299	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:87089299G>A	ENST00000441037.2	+	19	2709	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	AGBL1_ENST00000421325.2_Missense_Mutation_p.E872K|AGBL1_ENST00000389298.3_Missense_Mutation_p.E603K	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	872					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TAGCATCAAGGAAACCTTGTG	0.468000													11	62					0	0	0.00010058	0	0
MUC2	4583	broad.mit.edu	37	11	1094763	1094763	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:1094763C>T	ENST00000441003.2	+	31	5878	c.5851C>T	c.(5851-5853)Cca>Tca	p.P1951S	MUC2_ENST00000333592.6_Missense_Mutation_p.P239S|MUC2_ENST00000361558.6_Missense_Mutation_p.P89S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1982						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AACGCCGACCCCACTCTCCAC	0.637000													39	50					0	0	0.000437636	0	0
SCN7A	6332	broad.mit.edu	37	2	167262185	167262185	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:167262185G>A	ENST00000409855.1	-	25	5080	c.4954C>T	c.(4954-4956)Cat>Tat	p.H1652Y		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1652					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCTATCATATGAATATCTGAT	0.363000													62	100					0	0	0.000781405	0	0
ERO1L	30001	broad.mit.edu	37	14	53150624	53150624	+	Splice_Site	SNP	A	A	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr14:53150624A>G	ENST00000395686.3	-	2	339	c.114_splice	c.e2-1	p.V39_splice		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	39					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GTAACCACTAACCTGTTACAA	0.358000													6	39					0	0	3.59834e-05	0	0
FAM135A	57579	broad.mit.edu	37	6	71235824	71235824	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr6:71235824C>T	ENST00000418814.2	+	15	3651	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S	FAM135A_ENST00000457062.2_Missense_Mutation_p.P800S|FAM135A_ENST00000505769.1_Missense_Mutation_p.P593S|FAM135A_ENST00000361499.3_Missense_Mutation_p.P817S|FAM135A_ENST00000505868.1_Missense_Mutation_p.P1013S|FAM135A_ENST00000370479.3_Missense_Mutation_p.P800S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1013										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTCAGAAATCCCTACAGTTGA	0.338000													59	22					0	0	0.000781405	0	0
TMC3	342125	broad.mit.edu	37	15	81625167	81625167	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:81625167G>A	ENST00000558726.1	-	22	3034	c.2899C>T	c.(2899-2901)Ctc>Ttc	p.L967F	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.L966F|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	966						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GCCCGACGGAGGTCTATCAGG	0.587000													4	22					0	0	0.000602214	0	0
C2orf53	339779	broad.mit.edu	37	2	27360866	27360866	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:27360866G>A	ENST00000335524.3	-	3	857	c.332C>T	c.(331-333)tCc>tTc	p.S111F		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	111	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)					ggagggagaggatgcacgtgg	0.562000													4	3					0	0	0.00024832	0	0
MRPL1	65008	broad.mit.edu	37	4	78808385	78808385	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr4:78808385G>A	ENST00000315567.8	+	5	827	c.498G>A	c.(496-498)gaG>gaA	p.E166E	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	166							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						ATGCATCAGAGGTCAAAATAG	0.328000													7	18					0	0	8.12818e-05	0	0
GYG2	8908	broad.mit.edu	37	X	2772069	2772069	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chrX:2772069C>T	ENST00000381163.3	+	5	573	c.291C>T	c.(289-291)atC>atT	p.I97I	GYG2_ENST00000542787.1_Silent_p.I97I|GYG2_ENST00000338623.5_Silent_p.I97I|GYG2_ENST00000398806.3_Silent_p.I66I|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	97					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGAATCTAATCGATAGTGCCG	0.502000													18	15					0	0	0.000175454	0	0
IDE	3416	broad.mit.edu	37	10	94220977	94220977	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr10:94220977T>A	ENST00000265986.6	-	22	2850	c.2794A>T	c.(2794-2796)Acc>Tcc	p.T932S	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.T377S	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	932					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCCTTGGTAAGTGTCTTT	0.323000													46	207					0	0	0.000781405	0	0
DISC1	27185	broad.mit.edu	37	1	231830537	231830537	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:231830537C>T	ENST00000439617.2	+	2	1086	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.R345W|DISC1_ENST00000535983.1_Missense_Mutation_p.R345W|DISC1_ENST00000317586.4_Missense_Mutation_p.R345W|DISC1_ENST00000539444.1_Missense_Mutation_p.R345W|DISC1_ENST00000366633.3_Missense_Mutation_p.R345W|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.R345W|DISC1_ENST00000602281.1_Missense_Mutation_p.R345W	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	345	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCTGAGAAACCGGAGGCAGAT	0.612000													5	13					0	0	0.000602214	0	0
BDP1	55814	broad.mit.edu	37	5	70805913	70805913	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:70805913C>T	ENST00000358731.4	+	17	3257	c.2994C>T	c.(2992-2994)ggC>ggT	p.G998G	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	998	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGGAAAATGGCCCAGAGGAGG	0.463000													17	32					0	0	0.000958276	0	0
CFTR	1080	broad.mit.edu	37	7	117227832	117227832	+	Missense_Mutation	SNP	G	G	A	rs113993959	byFrequency	TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr7:117227832G>A	ENST00000003084.6	+	12	1756	c.1624G>A	c.(1624-1626)Gga>Aga	p.G542R	CFTR_ENST00000454343.1_Missense_Mutation_p.G481R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	542	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TATAGTTCTTGGAGAAGGTGG	0.358000									Cystic Fibrosis				17	23					0	0	0.000958276	0	0
TRAF1	7185	broad.mit.edu	37	9	123673690	123673690	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr9:123673690G>A	ENST00000373887.3	-	6	3252	c.807C>T	c.(805-807)ttC>ttT	p.F269F	TRAF1_ENST00000540010.1_Silent_p.F269F|TRAF1_ENST00000546084.1_Silent_p.F147F	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	269	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TCTTCCACAGGAAAGTGCCAT	0.622000													8	6					0	0	0.000157383	0	0
TMC5	79838	broad.mit.edu	37	16	19485576	19485576	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr16:19485576G>A	ENST00000396229.2	+	12	2817	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	TMC5_ENST00000564959.1_Missense_Mutation_p.E373K|TMC5_ENST00000561503.1_Missense_Mutation_p.E331K|TMC5_ENST00000542583.2_Missense_Mutation_p.E690K|TMC5_ENST00000541464.1_Missense_Mutation_p.E638K|TMC5_ENST00000219821.5_Missense_Mutation_p.E444K|TMC5_ENST00000381414.4_Missense_Mutation_p.E690K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	690						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCACGGCACGAAGTCTACGT	0.527000													24	47					0	0	0.000375601	0	0
TICRR	90381	broad.mit.edu	37	15	90138635	90138635	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:90138635C>T	ENST00000268138.7	+	7	1798	c.1693C>T	c.(1693-1695)Cgt>Tgt	p.R565C	TICRR_ENST00000560985.1_Missense_Mutation_p.R564C					TOPBP1-interacting checkpoint and replication regulator																		AGGGGTCCCTCGTACTCCAGT	0.438000													10	80					0	0	0.00010058	0	0
COL3A1	1281	broad.mit.edu	37	2	189868749	189868749	+	Silent	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:189868749G>A	ENST00000304636.3	+	39	2873	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	901	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTCCAGGCAAGGATGGGCCCC	0.502000													12	2					0	0	0.000978159	0	0
BTBD2	55643	broad.mit.edu	37	19	1997393	1997393	+	Silent	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:1997393C>T	ENST00000255608.4	-	2	493	c.477G>A	c.(475-477)acG>acA	p.T159T	BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	159	BTB.					cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAATCTCCGTGGATGTTG	0.622000													28	49					0	0	0.00106085	0	0
TDGF1	6997	broad.mit.edu	37	3	46620758	46620758	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:46620758G>A	ENST00000296145.5	+	3	858	c.125G>A	c.(124-126)gGa>gAa	p.G42E	TDGF1_ENST00000542931.1_Missense_Mutation_p.G26E|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	42					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCATCTCGGGGATACCTGGCC	0.517000													15	31					0	0	0.000308642	0	0
AHNAK	79026	broad.mit.edu	37	11	62291166	62291166	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:62291166G>A	ENST00000378024.4	-	5	10997	c.10723C>T	c.(10723-10725)Cca>Tca	p.P3575S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3575					nervous system development	nucleus	protein binding	p.P3575S(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAACCTCTGGCCCTTTCAGA	0.468000													56	101					0	0	0.000781405	0	0
DRD2	1813	broad.mit.edu	37	11	113283545	113283545	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr11:113283545C>T	ENST00000362072.3	-	7	1215	c.871G>A	c.(871-873)Gag>Aag	p.E291K	DRD2_ENST00000346454.3_Missense_Mutation_p.E262K|DRD2_ENST00000542968.1_Missense_Mutation_p.E291K|DRD2_ENST00000538967.1_Missense_Mutation_p.E293K|DRD2_ENST00000355319.2_Missense_Mutation_p.E293K|DRD2_ENST00000544518.1_Missense_Mutation_p.E290K	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	291	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CGGGTCCTCTCGGGTGGGCTG	0.677000													9	38					0	0	0.000673444	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143446	61143446	+	RNA	SNP	C	C	T			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr20:61143446C>T	ENST00000475015.1	-	0	892				C20orf166-AS1_ENST00000412495.1_RNA																							GGGACCCTCACCTTGACTGTG	0.662000													14	23					0	0	0.000151284	0	0
RYR2	6262	broad.mit.edu	37	1	237868530	237868530	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:237868530G>A	ENST00000366574.2	+	67	9784	c.9467G>A	c.(9466-9468)gGa>gAa	p.G3156E	RYR2_ENST00000542537.1_Missense_Mutation_p.G3140E|RYR2_ENST00000360064.6_Missense_Mutation_p.G3154E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3156					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGCATTAGGAGAATGTCTA	0.348000													4	23					0	0	0.000602214	0	0
HERC2	8924	broad.mit.edu	37	15	28386959	28386959	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:28386959T>G	ENST00000261609.7	-	77	11842	c.11734A>C	c.(11734-11736)Agc>Cgc	p.S3912R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3912					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATGTTTTCGCTGTCTGCCATT	0.328000													45	248					0	0	0.000781405	0	0
MAP3K2	10746	broad.mit.edu	37	2	128081558	128081558	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:128081558G>A	ENST00000409947.1	-	11	1040	c.758C>T	c.(757-759)cCt>cTt	p.P253L	MAP3K2_ENST00000344908.5_Missense_Mutation_p.P253L			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	253					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		CTCAAAGATAGGGTTATCATA	0.259000													7	11					0	0	8.12818e-05	0	0
TBC1D5	9779	broad.mit.edu	37	3	17202654	17202654	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr3:17202654G>A	ENST00000253692.7	-	22	3853	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S752F|TBC1D5_ENST00000429383.4_Missense_Mutation_p.S730F	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	730						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GCCGGAGAAGGAGCCCCTGGC	0.572000													10	22					0	0	0.000442599	0	0
RUSC1	23623	broad.mit.edu	37	1	155295247	155295247	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr1:155295247delC	ENST00000368352.5	+	5	1825	c.1674delC	c.(1672-1674)agfs	p.S558fs	RUSC1_ENST00000368347.4_Frame_Shift_Del_p.S148fs|RUSC1_ENST00000368349.4_Frame_Shift_Del_p.S89fs|RUSC1_ENST00000368354.3_Frame_Shift_Del_p.S558fs|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Frame_Shift_Del_p.S89fs	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	558	RUN.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCAGGAGCAGCCCCTGGAGCG	0.721											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
LOC150776	150776	broad.mit.edu	37	2	132266282	132266282	+	RNA	DEL	G	G	-	rs74537446		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr2:132266282delG	ENST00000438378.2	+	0	1234					NR_026922.1																						GCTGGATGGTGGGAAGCAGAA	0.547													2	4	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)del	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					3	3	---	---	---	---					
FMN1	342184	broad.mit.edu	37	15	33359256	33359256	+	Frame_Shift_Del	DEL	A	A	-	rs34563484		TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr15:33359256delA	ENST00000334528.9	-	1	829	c.830delT	c.(829-831)tcfs	p.F277fs	FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000558197.1_Frame_Shift_Del_p.F277fs	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	400	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAGCCCACTGAAAAAAGCTGG	0.468													58	44	---	---	---	---					
SNRNP70	6625	broad.mit.edu	37	19	49611383	49611384	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-D9-A149-06A-11D-A196-08	TCGA-D9-A149-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa448bd-3234-4b4d-918f-0c157c847512	334de3b8-4b3a-4e80-8d9f-4d81b1143139	g.chr19:49611383_49611384delGG	ENST00000221448.5	+	10	1166_1167	c.970_971delGG	c.(970-972)gfs	p.G324fs	SNRNP70_ENST00000598441.1_Frame_Shift_Del_p.G333fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	333					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						TGGGCCTCCAGGGGAGCTCGGG	0.762													2	4	---	---	---	---					
