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
TFAP2D	83741	broad.mit.edu	37	6	50740422	50740422	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:50740422C>A	ENST00000008391.3	+	8	1432	c.1204C>A	c.(1204-1206)Ctc>Atc	p.L402I		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	402	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCAAACAGTTCTCAGTGAAAT	0.473000													5	52					8.12818e-05	8.79261e-05	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196682469	196682469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:196682469G>A	ENST00000312428.6	-	50	9476	c.9376C>T	c.(9376-9378)Ctt>Ttt	p.L3126F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3126	AAA 5 (By similarity).				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						TCTTCTTCAAGGTCTGGCCTT	0.343000													7	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472023	179472023	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:179472023A>G	ENST00000589042.1	-	278	53530	c.53306T>C	c.(53305-53307)cTt>cCt	p.L17769P	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L8704P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L8829P|TTN_ENST00000342992.6_Missense_Mutation_p.L15201P|TTN_ENST00000342175.6_Missense_Mutation_p.L8896P|TTN_ENST00000591111.1_Missense_Mutation_p.L16128P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16128	Ig-like 104.						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)			TTTTAAGTCAAGAACTGGACC	0.358000													11	52					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	112					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154525454	154525454	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:154525454C>T	ENST00000409959.3	+	25	3339	c.3290C>T	c.(3289-3291)aCa>aTa	p.T1097I	KIAA0922_ENST00000440693.1_Missense_Mutation_p.T1013I|KIAA0922_ENST00000409663.3_Missense_Mutation_p.T1096I	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1096						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCAGAGAACACAGCCGAGTTC	0.423000													17	56					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26866546	26866546	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:26866546C>A	ENST00000541819.2	-	5	646	c.544G>T	c.(544-546)Gac>Tac	p.D182Y	GABRB3_ENST00000311550.5_Missense_Mutation_p.D126Y|GABRB3_ENST00000545868.1_Missense_Mutation_p.D41Y|GABRB3_ENST00000400188.3_Missense_Mutation_p.D55Y|GABRB3_ENST00000299267.4_Missense_Mutation_p.D126Y			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	126					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GACTTTTTGTCATTTAAGAAA	0.493000													42	53					2.45108e-15	3.12887e-15	1	1	0
AADACL2	344752	broad.mit.edu	37	3	151474781	151474781	+	Splice_Site	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:151474781T>C	ENST00000356517.3	+	5	714	c.603_splice	c.e5-1	p.V202_splice	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	202						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TATTTTCAGGTGCAGAATGAT	0.303000													32	29					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70518747	70518747	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:70518747G>T	ENST00000381269.2	-	5	2744	c.1991C>A	c.(1990-1992)cCc>cAc	p.P664H	SLC8A3_ENST00000216568.7_Missense_Mutation_p.P35H|SLC8A3_ENST00000534137.1_Missense_Mutation_p.P661H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.P658H|SLC8A3_ENST00000357887.3_Missense_Mutation_p.P662H|SLC8A3_ENST00000394330.2_Missense_Mutation_p.P21H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P662H|SLC8A3_ENST00000533541.1_Missense_Mutation_p.P21H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	664					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTCTAGTTTGGGGTGTTCACC	0.423000													64	42					2.3441e-25	3.33551e-25	1	1	0
PRCP	5547	broad.mit.edu	37	11	82571077	82571077	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:82571077C>A	ENST00000313010.3	-	2	445	c.251G>T	c.(250-252)gGa>gTa	p.G84V	PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Missense_Mutation_p.G105V	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	84					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AAGTATTGATCCACCATTTTT	0.338000													5	17					0.000602214	0.000634162	1	1	0
ETV5	2119	broad.mit.edu	37	3	185783684	185783684	+	Silent	SNP	C	C	T	rs146875211		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:185783684C>T	ENST00000306376.5	-	8	1074	c.828G>A	c.(826-828)ccG>ccA	p.P276P	ETV5_ENST00000434744.1_Silent_p.P276P|ETV5_ENST00000537818.1_Silent_p.P318P	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	276					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CTGGCATGCCCGGGACCCCAT	0.562000			T	"""TMPRSS2, SCL45A3"""	Prostate								30	155					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916239	97916239	+	RNA	SNP	A	A	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:97916239A>C	ENST00000534948.1	+	0	1017							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TGATTTGCCAAAAATAAATAT	0.294000													26	29					0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122850143	122850143	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:122850143G>T	ENST00000343035.2	-	2	333	c.285C>A	c.(283-285)ttC>ttA	p.F95L		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	95										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCGGGTGCGGGAACAGCGCTG	0.677000													23	21					6.21321e-17	8.14074e-17	1	1	0
DCC	1630	broad.mit.edu	37	18	50848513	50848513	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:50848513A>T	ENST00000442544.2	+	14	2766	c.2150A>T	c.(2149-2151)gAg>gTg	p.E717V	DCC_ENST00000412726.1_Missense_Mutation_p.E565V|DCC_ENST00000581580.1_Missense_Mutation_p.E372V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	717					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGACTCCAGAGAATGATCTA	0.418000													15	27					0	0	1	0	0
CMTR2	55783	broad.mit.edu	37	16	71318551	71318551	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:71318551T>C	ENST00000338099.5	-	3	1609	c.1273A>G	c.(1273-1275)Att>Gtt	p.I425V	FTSJD1_ENST00000434935.2_Missense_Mutation_p.I425V			Q8IYT2	FTSJ1_HUMAN		425						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTACAACCAATACTAGATTTT	0.289000													4	28					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217216	150217216	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:150217216C>G	ENST00000313543.4	+	2	311	c.154C>G	c.(154-156)Cgg>Ggg	p.R52G		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	52							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAAGCATCCCGGGAATGGCA	0.502000													7	26					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740164	62740164	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:62740164A>C	ENST00000371153.4	-	3	990	c.612T>G	c.(610-612)ttT>ttG	p.F204L	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	204	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTGCAGGTTCAAAGGTGCCAT	0.632000													5	30					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289110	107289110	+	Silent	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:107289110A>G	ENST00000277216.3	-	1	380	c.381T>C	c.(379-381)tgT>tgC	p.C127C		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCAGAGGGTTACAGATGGCCA	0.448000													8	218					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66978735	66978735	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:66978735G>A	ENST00000340001.4	-	37	4899	c.4688C>T	c.(4687-4689)cCt>cTt	p.P1563L	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.P1525L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1563					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTGTGATAAAGGTCGCACATC	0.448000													57	22					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78444926	78444926	+	Splice_Site	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:78444926G>A	ENST00000397909.2	+	11	2688	c.2516_splice	c.e11+1	p.G839_splice	NAV3_ENST00000228327.6_Splice_Site_p.G839_splice|NAV3_ENST00000536525.2_Splice_Site_p.G839_splice|NAV3_ENST00000266692.7_Splice_Site_p.G839_splice			Q8IVL0	NAV3_HUMAN	neuron navigator 3	839						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATCAACAGTGGGTAAGTAAC	0.448000										HNSCC(70;0.22)			28	41					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107097154	107097154	+	Silent	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:107097154C>T	ENST00000261058.1	+	1	967	c.720C>T	c.(718-720)taC>taT	p.Y240Y		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	240										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CAAATATTTACATTTACCCAG	0.353000													47	93					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76949004	76949004	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:76949004C>T	ENST00000380887.2	+	5	761	c.689C>T	c.(688-690)cCt>cTt	p.P230L	ESRRB_ENST00000556177.1_Missense_Mutation_p.P230L|ESRRB_ENST00000261532.7_Missense_Mutation_p.P230L|ESRRB_ENST00000509242.1_Missense_Mutation_p.P230L			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	230						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATGCCTCCCCCTGGTATGCCT	0.557000													41	40					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13885460	13885460	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:13885460C>T	ENST00000327606.3	-	2	238	c.58G>A	c.(58-60)Gac>Aac	p.D20N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	20					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	p.D20H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CGAGGACAGTCGGAATTATTT	0.418000													12	23					0	0	1	0	0
RAD51C	5889	broad.mit.edu	37	17	56787303	56787303	+	Silent	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:56787303T>C	ENST00000337432.4	+	5	860	c.789T>C	c.(787-789)aaT>aaC	p.N263N	RAD51C_ENST00000583539.1_Silent_p.N263N	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	263					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTTATTAAATGGCCTAGCCC	0.373000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				33	77					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96949626	96949626	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:96949626C>G	ENST00000323853.5	-	32	4586	c.4509G>C	c.(4507-4509)tgG>tgC	p.W1503C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1503	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGCAGCCCAGCCAGTGGGCCA	0.597000													4	8					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363178	79363178	+	RNA	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:79363178C>A	ENST00000444841.1	-	0	1160																											ACCAGGGACCCACTACTCCAC	0.532000													18	30					5.3912e-06	5.9453e-06	1	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84534425	84534425	+	RNA	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:84534425G>T	ENST00000527857.1	+	0	4447					NR_026851.1																						AGCCTTTCCAGGGCTATCCCC	0.502000													6	64					0.0293803	0.0295291	1	1	0
ZNF419	79744	broad.mit.edu	37	19	58005445	58005445	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:58005445G>T	ENST00000424930.2	+	5	1752	c.1523G>T	c.(1522-1524)gGa>gTa	p.G508V	ZNF419_ENST00000442920.2_Missense_Mutation_p.G494V|ZNF419_ENST00000415379.2_Missense_Mutation_p.G461V|ZNF419_ENST00000426954.2_Missense_Mutation_p.G495V|ZNF419_ENST00000354197.4_Missense_Mutation_p.G439V|ZNF419_ENST00000347466.6_Missense_Mutation_p.G475V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000221735.7_Missense_Mutation_p.G507V	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		ATTCACACTGGAGAAATGCAG	0.428000													22	71					5.26018e-13	6.54637e-13	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123192226	123192226	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:123192226G>T	ENST00000264501.4	+	47	7920	c.7547G>T	c.(7546-7548)gGa>gTa	p.G2516V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G2516V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G2516V			Q2LD37	K1109_HUMAN	KIAA1109	2516					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTAATGTTGGGAACCTTTAGC	0.418000													22	38					1.28384e-07	1.44797e-07	1	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74507574	74507574	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:74507574G>T	ENST00000354431.4	-	7	1232	c.1041C>A	c.(1039-1041)acC>acA	p.T347T	LRRIQ3_ENST00000395089.1_Silent_p.T347T	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	347										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCCTAAAACTGGTATCCAATT	0.308000													17	21					0.006122	0.00626401	1	1	0
SECISBP2L	9728	broad.mit.edu	37	15	49327610	49327610	+	Missense_Mutation	SNP	C	C	T	rs138614543		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:49327610C>T	ENST00000559471.1	-	3	712	c.449G>A	c.(448-450)cGt>cAt	p.R150H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R150H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	150										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGACTTGGACGCTCAGTGCA	0.468000													24	66					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155176799	155176799	+	Silent	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:155176799A>G	ENST00000357232.3	-	21	5447	c.5448T>C	c.(5446-5448)agT>agC	p.S1816S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1816	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGTTCAAACCACTGTCCAAGT	0.413000													16	29					0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376632	75376632	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:75376632G>C	ENST00000555647.1	-	8	1171	c.884C>G	c.(883-885)tCc>tGc	p.S295C	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.S295C|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.S295C|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.S264C			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	295	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GGGTCTGGTGGATGGGGCCTC	0.652000													7	64					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740409	50740409	+	Silent	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:50740409T>A	ENST00000008391.3	+	8	1419	c.1191T>A	c.(1189-1191)acT>acA	p.T397T		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	397	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTCTAAGCACTTTCCAAACAG	0.463000													4	53					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95090073	95090073	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:95090073C>A	ENST00000553947.1	+	8	2157	c.1269C>A	c.(1267-1269)ccC>ccA	p.P423P	SERPINA3_ENST00000467132.1_Silent_p.P398P|SERPINA3_ENST00000393080.4_Silent_p.P398P|SERPINA3_ENST00000393078.3_Silent_p.P398P|SERPINA3_ENST00000482740.1_Silent_p.P180P			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	398					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCAACAGGCCCTTCCTGATGA	0.498000													21	200					5.26018e-13	6.54637e-13	1	1	0
IFNA4	3441	broad.mit.edu	37	9	21187529	21187529	+	Translation_Start_Site	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:21187529A>G	ENST00000421715.1	-	1	69	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	1					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGACAGGGCCATTGGGATGTT	0.473000													41	13					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39525676	39525676	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:39525676C>A	ENST00000265707.5	+	14	1531	c.1486C>A	c.(1486-1488)Caa>Aaa	p.Q496K	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.Q472K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	496	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CGGACAATGTCAAACTACTGA	0.383000													26	89					5.77227e-19	7.74186e-19	1	1	0
CSPP1	79848	broad.mit.edu	37	8	68018208	68018208	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:68018208T>G	ENST00000262210.5	+	8	1149	c.1118T>G	c.(1117-1119)tTt>tGt	p.F373C	CSPP1_ENST00000412460.1_Missense_Mutation_p.F79C	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	408						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GGGATGCTCTTTGGTAGGCAC	0.343000													6	45					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71026054	71026054	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:71026054G>T	ENST00000393567.2	-	24	3854	c.3704C>A	c.(3703-3705)cCa>cAa	p.P1235Q	HYDIN_ENST00000448089.2_Missense_Mutation_p.P1187Q	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1235										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGAGGTTGCTGGGATGGACTC	0.512000													33	48					9.04072e-19	1.20847e-18	1	1	0
FAM161B	145483	broad.mit.edu	37	14	74409087	74409087	+	Silent	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:74409087G>A	ENST00000286544.3	-	4	1644	c.1446C>T	c.(1444-1446)acC>acT	p.T482T	FAM161B_ENST00000534936.1_Silent_p.T419T	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TCCTTCCGGTGGTGGCAGCAT	0.622000													18	88					0	0	1	0	0
NFKBID	84807	broad.mit.edu	37	19	36388629	36388629	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:36388629G>C	ENST00000352614.2	-	4	385	c.386C>G	c.(385-387)gCc>gGc	p.A129G	NFKBID_ENST00000606253.1_5'UTR|NFKBID_ENST00000396901.1_5'UTR			Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	0					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						GAAATTTTCGGCAGCAGAAGC	0.597000													24	28					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124351938	124351938	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:124351938G>A	ENST00000338354.3	+	20	2433	c.2327G>A	c.(2326-2328)tGt>tAt	p.C776Y	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.C766Y|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.C776Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.C766Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	776	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGCTGGGCTGTGGCTGGGCC	0.617000													61	488					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33044785	33044785	+	Splice_Site	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:33044785A>T	ENST00000242209.4	+	10	1705		c.e10-1		FKBP9_ENST00000538443.1_Splice_Site|FKBP9_ENST00000538336.1_Splice_Site|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Splice_Site	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa						protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTTCTTTTCCAGTTCTCAGAG	0.542000													4	90					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131848901	131848901	+	Splice_Site	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:131848901C>A	ENST00000359827.3	-	24	5462	c.4500_splice	c.e24+1	p.L1500_splice	PLXNA4_ENST00000321063.4_Splice_Site_p.L1500_splice			Q9HCM2	PLXA4_HUMAN	plexin A4	1500						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTGGGCTCACCAGGGTTTTGT	0.602000													7	25					0.000157383	0.000168868	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152539539	152539539	+	Splice_Site	SNP	C	C	A	rs35128811		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:152539539C>A	ENST00000367255.5	-	121	22646		c.e121-1		SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAACTCCAGCCTTTTTTTCCA	0.343000										HNSCC(10;0.0054)			124	64					1.67525e-54	2.59794e-54	1	1	0
RAB39B	116442	broad.mit.edu	37	X	154490409	154490409	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:154490409G>T	ENST00000369454.3	-	2	621	c.321C>A	c.(319-321)acC>acA	p.T107T		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	107					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.T107T(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGTGTACTTTGGTCTCTTCTA	0.493000													127	47					6.69922e-78	1.06384e-77	1	1	0
MCM7	4176	broad.mit.edu	37	7	99697268	99697268	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:99697268C>G	ENST00000303887.5	-	3	865	c.220G>C	c.(220-222)Gcg>Ccg	p.A74P	MCM7_ENST00000343023.6_Missense_Mutation_p.A74P|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	74					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	AAGAGCTTCGCGTAGCGCCTG	0.547000													32	95					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113228230	113228230	+	Silent	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:113228230T>A	ENST00000401783.2	-	18	3573	c.3237A>T	c.(3235-3237)ccA>ccT	p.P1079P	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.P1079P|SVEP1_ENST00000374469.1_Silent_p.P1056P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1079					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACCAAATTTTGGCTGATAAG	0.448000													10	31					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670219	134670219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:134670219G>T	ENST00000398015.3	+	3	500	c.130G>T	c.(130-132)Gaa>Taa	p.E44*	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	44						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			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						ACAGTGGGAAGAAGTCAGTGG	0.483000													8	19					0.00307968	0.00317567	1	1	0
PALD1	27143	broad.mit.edu	37	10	72300939	72300939	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:72300939G>A	ENST00000263563.6	+	16	2258	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CTGCCTCAGCGGCCAGGGCCG	0.607000													19	77					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90503482	90503482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:90503482C>G	ENST00000325643.5	+	4	4146	c.4080C>G	c.(4078-4080)caC>caG	p.H1360Q		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCTGCTGCCACAGGGGTCACT	0.597000													12	78					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154681021	154681021	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:154681021C>A	ENST00000404039.1	+	24	2739	c.2152C>A	c.(2152-2154)Cag>Aag	p.Q718K	DPP6_ENST00000427557.1_Missense_Mutation_p.Q675K|DPP6_ENST00000332007.3_Missense_Mutation_p.Q720K|DPP6_ENST00000377770.3_Missense_Mutation_p.Q782K	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	782					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCTGGAAGAACAGCAGTTCCT	0.547000													6	19					0.217242	0.217242	1	1	0
KDM5C	8242	broad.mit.edu	37	X	53239927	53239927	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:53239927C>A	ENST00000452825.3	-	9	1845	c.1313G>T	c.(1312-1314)gGc>gTc	p.G438V	KDM5C_ENST00000404049.3_Missense_Mutation_p.G504V|KDM5C_ENST00000375383.3_Missense_Mutation_p.G464V|KDM5C_ENST00000375401.3_Missense_Mutation_p.G505V|KDM5C_ENST00000375379.3_Missense_Mutation_p.G505V	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	505					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GAAGACCATGCCCACGTAGAG	0.517000			"""N, F, S"""		clear cell renal carcinoma								14	5					0.00185496	0.00193286	1	1	0
HHIP	64399	broad.mit.edu	37	4	145580834	145580834	+	Silent	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:145580834G>C	ENST00000296575.3	+	4	1330	c.675G>C	c.(673-675)ggG>ggC	p.G225G	HHIP_ENST00000434550.2_Silent_p.G225G|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	225						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTGTGAGTGGGCTGCGGCAGC	0.463000													69	136					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31123764	31123764	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:31123764G>T	ENST00000304166.4	+	7	626	c.337G>T	c.(337-339)Gtg>Ttg	p.V113L	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V92L|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V113L|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V113L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	113					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AGACATGGGAGTGGTGAGCCG	0.478000													16	77					4.7546e-09	5.48714e-09	1	1	0
RMDN3	55177	broad.mit.edu	37	15	41032388	41032388	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:41032388T>A	ENST00000260385.6	-	6	1981	c.914A>T	c.(913-915)aAa>aTa	p.K305I	RMDN3_ENST00000558560.1_Intron|RMDN3_ENST00000338376.3_Missense_Mutation_p.K305I					regulator of microtubule dynamics 3																		TGCTTCTTCTTTTCCTGTAGG	0.502000													3	19					0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44635982	44635982	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:44635982T>A	ENST00000262894.6	+	5	1495	c.1215T>A	c.(1213-1215)tgT>tgA	p.C405*	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Nonsense_Mutation_p.C405*	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GTGAAGAATGTGGGAAGGGAT	0.428000													70	90					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													6	77					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94109931	94109931	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:94109931G>A	ENST00000553484.1	+	36	6269	c.6115G>A	c.(6115-6117)Gaa>Aaa	p.E2039K	UNC79_ENST00000256339.4_Missense_Mutation_p.E1840K|UNC79_ENST00000393151.2_Missense_Mutation_p.E2017K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1978K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2017						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CATTCTTGAAGAATACGATGA	0.468000													70	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436458	179436458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:179436458G>A	ENST00000589042.1	-	326	74625	c.74401C>T	c.(74401-74403)Ctt>Ttt	p.L24801F	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L15736F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L15861F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L22233F|TTN_ENST00000342175.6_Missense_Mutation_p.L15928F|TTN_ENST00000591111.1_Missense_Mutation_p.L23160F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23160	Fibronectin type-III 80.						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)			ATAACATTAAGGGTTTCAATA	0.433000													34	44					0	0	1	0	0
RDM1	201299	broad.mit.edu	37	17	34251686	34251686	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:34251686C>T	ENST00000394529.3	-	3	907	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	RDM1_ENST00000425909.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000419453.2_Missense_Mutation_p.E141K|RDM1_ENST00000293273.6_Missense_Mutation_p.E164K|RDM1_ENST00000431884.2_Missense_Mutation_p.E164K|RDM1_ENST00000430160.2_Missense_Mutation_p.E141K|RDM1_ENST00000394528.3_Missense_Mutation_p.E164K|RDM1_ENST00000394527.1_Intron	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN	RAD52 motif 1	164					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AACACCACTTCTAAAGCACAG	0.488000								Other identified genes with known or suspected DNA repair function					39	82					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775780	47775780	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:47775780G>T	ENST00000376954.1	+	6	2103	c.1735G>T	c.(1735-1737)Gag>Tag	p.E579*	ZNF81_ENST00000338637.7_Nonsense_Mutation_p.E579*			P51508	ZNF81_HUMAN	zinc finger protein 81	579						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCATACTACAGAGAAGCCTTA	0.418000													13	18					0.000151284	0.000162764	1	1	0
PRDM16	63976	broad.mit.edu	37	1	3348575	3348575	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:3348575G>A	ENST00000378398.3	+	17	3649	c.3567G>A	c.(3565-3567)atG>atA	p.M1189I	PRDM16_ENST00000378391.2_Missense_Mutation_p.M1189I|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.M1188I|PRDM16_ENST00000441472.2_Missense_Mutation_p.M1188I|PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000270722.5_Missense_Mutation_p.M1189I|PRDM16_ENST00000511072.1_Intron			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1189	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGGAGCCGATGCCGACTTTTG	0.552000			T	EVI1	"""MDS, AML"""								17	54					0	0	1	0	0
GLRX	2745	broad.mit.edu	37	5	95158243	95158243	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:95158243G>T	ENST00000379979.4	-	1	175	c.124C>A	c.(124-126)Ctt>Att	p.L42I	GLRX_ENST00000505427.1_Missense_Mutation_p.L42I|GLRX_ENST00000237858.6_Missense_Mutation_p.L42I|GLRX_ENST00000512469.2_Missense_Mutation_p.L42I|GLRX_ENST00000508780.1_Missense_Mutation_p.L42I	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	42	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	AATTCCAGAAGCCCTTGTTTG	0.483000													60	31					1.95512e-22	2.71393e-22	1	1	0
MAPRE2	10982	broad.mit.edu	37	18	32682063	32682063	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:32682063C>T	ENST00000436190.2	+	5	788	c.514C>T	c.(514-516)Cct>Tct	p.P172S	MAPRE2_ENST00000588910.1_Missense_Mutation_p.P184S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P131S|MAPRE2_ENST00000300249.5_Missense_Mutation_p.P184S|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P141S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P141S	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	184					cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCCTCCTGACCCTGGTGAACA	0.448000													10	34					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196648897	196648897	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:196648897G>T	ENST00000367429.4	+	6	1004	c.764G>T	c.(763-765)gGa>gTa	p.G255V	CFH_ENST00000439155.2_Missense_Mutation_p.G255V|CFH_ENST00000359637.2_Missense_Mutation_p.G191V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	255	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACTGAATCTGGATGGCGTCCG	0.308000													10	27					3.07112e-06	3.40568e-06	1	1	0
PLCB2	5330	broad.mit.edu	37	15	40584265	40584265	+	Splice_Site	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:40584265C>T	ENST00000260402.3	-	23	2775	c.2526_splice	c.e23+1	p.E842_splice	PLCB2_ENST00000456256.2_Splice_Site_p.E842_splice|PLCB2_ENST00000557821.1_Splice_Site_p.E838_splice	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	842					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAACACAGACCTCAGGCAGAC	0.597000													25	31					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23170160	23170160	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:23170160C>A	ENST00000594710.1	-	3	321	c.176G>T	c.(175-177)gGa>gTa	p.G59V		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		GGGCTCTTTTCCTTGCTCCAG	0.423000													23	31					8.24728e-16	1.0596e-15	1	1	0
GFRA1	2674	broad.mit.edu	37	10	117849305	117849305	+	Missense_Mutation	SNP	C	C	A	rs77098230		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:117849305C>A	ENST00000439649.3	-	8	1496	c.1129G>T	c.(1129-1131)Ggg>Tgg	p.G377W	GFRA1_ENST00000369236.1_Missense_Mutation_p.G377W|GFRA1_ENST00000544592.1_Missense_Mutation_p.G261W|GFRA1_ENST00000355422.6_Missense_Mutation_p.G382W	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	382					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TTCTCAGACCCTGCTGGCCCC	0.577000													25	35					3.6726e-16	4.74926e-16	1	1	0
UGT2A3	79799	broad.mit.edu	37	4	69796895	69796895	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:69796895C>A	ENST00000251566.4	-	4	1092	c.1062G>T	c.(1060-1062)tgG>tgT	p.W354C	UGT2A3_ENST00000420231.2_Missense_Mutation_p.W65C	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	354						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTGGGGTATCCAATCATACA	0.373000													18	29					4.35082e-09	5.06532e-09	1	1	0
SETD5	55209	broad.mit.edu	37	3	9512328	9512328	+	Silent	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:9512328G>A	ENST00000402466.1	+	20	3384	c.2616G>A	c.(2614-2616)gtG>gtA	p.V872V	SETD5_ENST00000407969.1_Silent_p.V989V|SETD5_ENST00000302463.6_Silent_p.V872V|SETD5_ENST00000406341.1_Silent_p.V970V|SETD5_ENST00000402198.1_Silent_p.V970V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	970								p.D866_R873delDGHQTLVR(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCCTCGTGAGAAACTCAG	0.517000													62	44					0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151210743	151210743	+	Splice_Site	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:151210743T>C	ENST00000409426.1	+	9	1638		c.e9+2		PIP5K1A_ENST00000441902.2_Intron|PIP5K1A_ENST00000414290.2_Splice_Site|PIP5K1A_ENST00000368888.4_Splice_Site|PIP5K1A_ENST00000368890.4_Splice_Site			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha						phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCTTACAGGTGAGGAGCATA	0.433000													17	35					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034437	58034437	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:58034437C>A	ENST00000395079.2	-	1	1295	c.894G>T	c.(892-894)agG>agT	p.R298S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AAAGGCAGTTCCTGGTAAGAA	0.493000													44	55					9.9998e-32	1.48131e-31	1	1	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804291	75804291	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:75804291A>T	ENST00000550916.1	+	2	359	c.312A>T	c.(310-312)caA>caT	p.Q104H	GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.Q104H|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.Q104H|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.Q104H|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.Q39H	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	104						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TTTATTTACAAGATGTACAAA	0.348000													16	61					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687344	68687344	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:68687344C>T	ENST00000361320.4	+	2	1248	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	224						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAACCTGGCCCTTTTTCCAAG	0.463000													48	58					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124412750	124412750	+	Silent	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:124412750G>C	ENST00000306842.2	-	1	825	c.801C>G	c.(799-801)ctC>ctG	p.L267L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L267L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		TCCCTTGCTCGAGGGGCAGGA	0.438000													9	34					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17768873	17768873	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:17768873G>T	ENST00000428389.2	-	10	1028	c.1029C>A	c.(1027-1029)ctC>ctA	p.L343L	UNC13A_ENST00000552293.1_Silent_p.L255L|UNC13A_ENST00000551649.1_Silent_p.L255L|UNC13A_ENST00000519716.2_Silent_p.L255L|UNC13A_ENST00000252773.7_Silent_p.L255L|UNC13A_ENST00000550896.1_Silent_p.L255L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	255	Glu-rich.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCACCTACCTGAGGGCTTGTG	0.602000													9	11					7.48243e-07	8.36767e-07	1	1	0
LMX1A	4009	broad.mit.edu	37	1	165322430	165322430	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:165322430C>A	ENST00000342310.3	-	3	528	c.146G>T	c.(145-147)cGg>cTg	p.R49L	LMX1A_ENST00000367893.4_Missense_Mutation_p.R49L|LMX1A_ENST00000294816.2_Missense_Mutation_p.R49L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	49	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GTCGTTGAGCCGCAGCAGAAA	0.612000													20	38					1.33834e-09	1.56731e-09	1	1	0
DAB2IP	153090	broad.mit.edu	37	9	124528979	124528979	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:124528979A>C	ENST00000408936.3	+	9	1849	c.1667A>C	c.(1666-1668)aAg>aCg	p.K556T	DAB2IP_ENST00000259371.2_Missense_Mutation_p.K528T|DAB2IP_ENST00000309989.1_Missense_Mutation_p.K432T			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	556	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTCATCGCCAAGGTCACCCAG	0.637000													117	124					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96106572	96106572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:96106572C>A	ENST00000278520.5	-	5	1479	c.1051G>T	c.(1051-1053)Gct>Tct	p.A351S	CCDC82_ENST00000423339.2_Missense_Mutation_p.A351S|CCDC82_ENST00000542662.1_Missense_Mutation_p.A351S			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	351							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCATCTAAAGCGTTGATCAGA	0.289000													4	47					0.00116845	0.00122394	1	1	0
CDH19	28513	broad.mit.edu	37	18	64172293	64172293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:64172293C>G	ENST00000262150.2	-	12	2367	c.2075G>C	c.(2074-2076)aGt>aCt	p.S692T	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	692					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GAATATGGCACTGTCGGGGCC	0.498000													39	76					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53577459	53577459	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:53577459C>G	ENST00000601421.1	-	2	973	c.97G>C	c.(97-99)Gtg>Ctg	p.V33L	ZNF160_ENST00000599056.1_Missense_Mutation_p.V69L|ZNF160_ENST00000355147.5_Missense_Mutation_p.V69L|ZNF160_ENST00000418871.1_Missense_Mutation_p.V69L|ZNF160_ENST00000429604.1_Missense_Mutation_p.V69L			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	69	KRAB.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CAGCTCTTCACAGTCCAGGGC	0.463000													19	113					0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149792229	149792229	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:149792229C>G	ENST00000353334.6	-	1	263	c.84G>C	c.(82-84)gaG>gaC	p.E28D	CD74_ENST00000377795.3_Missense_Mutation_p.E28D|CD74_ENST00000524315.1_Missense_Mutation_p.E28D|CD74_ENST00000009530.7_Missense_Mutation_p.E28D	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	28					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGCAGTTGCTCATTGTTGG	0.622000			T	ROS1	NSCLC								148	65					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228996728	228996728	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:228996728C>G	ENST00000392056.3	-	2	152	c.106G>C	c.(106-108)Ggc>Cgc	p.G36R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G36R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	36						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)		TTCCCCGGGCCGCTTCCTGAG	0.463000													23	19					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160474461	160474461	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:160474461C>G	ENST00000498165.1	+	1	466	c.365C>G	c.(364-366)tCc>tGc	p.S122C	PPM1L_ENST00000497343.1_Missense_Mutation_p.S122C	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	122	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACGCACCCGTCCATCTTCGGG	0.582000													10	78					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677702	73677702	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:73677702C>G	ENST00000264448.6	+	8	4156	c.4045C>G	c.(4045-4047)Cat>Gat	p.H1349D	ALMS1_ENST00000409009.1_Missense_Mutation_p.H1307D|ALMS1_ENST00000377715.1_Missense_Mutation_p.H1349D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1349	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGTCTTGCCACATAGTCATCC	0.458000													4	189					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779293	36779293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:36779293C>G	ENST00000416516.2	-	2	1348	c.858G>C	c.(856-858)aaG>aaC	p.K286N		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	286						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCTGCGGAGCTTCTCAAAGC	0.572000													59	44					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40671795	40671795	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:40671795A>T	ENST00000298910.7	+	17	2105	c.2047A>T	c.(2047-2049)Atc>Ttc	p.I683F	LRRK2_ENST00000343742.2_Missense_Mutation_p.I683F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	683					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTCTTCCAATATCATGGAACA	0.333000													16	35					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90874518	90874518	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:90874518C>A	ENST00000394980.1	+	9	3955	c.3636C>A	c.(3634-3636)gcC>gcA	p.A1212A	MMRN1_ENST00000508372.1_Silent_p.A954A|MMRN1_ENST00000394981.1_Silent_p.A515A|MMRN1_ENST00000264790.2_Silent_p.A1212A			Q13201	MMRN1_HUMAN	multimerin 1	1212	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAATTCCAGCCAAGTTTCCCC	0.368000													11	59					1.58986e-06	1.77297e-06	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99508182	99508182	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr13:99508182C>A	ENST00000376460.1	-	34	3881	c.3801G>T	c.(3799-3801)agG>agT	p.R1267S	DOCK9_ENST00000339416.2_Missense_Mutation_p.R1268S|DOCK9_ENST00000448493.2_Missense_Mutation_p.R1279S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1268					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R1267S(1)|p.R1279S(1)|p.R1268S(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTCACTATTCCTTTCTGGAA	0.398000													7	103					0.0381472	0.0382436	1	1	0
RYR2	6262	broad.mit.edu	37	1	237494248	237494248	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:237494248A>C	ENST00000366574.2	+	3	556	c.239A>C	c.(238-240)gAg>gCg	p.E80A	RYR2_ENST00000542537.1_Missense_Mutation_p.E64A|RYR2_ENST00000360064.6_Silent_p.R78R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	80					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)			GCGCTGCAGGAGATGCTGGCT	0.498000													26	55					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69096945	69096945	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:69096945T>C	ENST00000543976.1	-	2	1157	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.Y304C|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	304					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TAAACGATTATATTCAGGACA	0.398000													10	27					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237806679	237806679	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:237806679C>A	ENST00000366574.2	+	48	7591	c.7274C>A	c.(7273-7275)tCc>tAc	p.S2425Y	RYR2_ENST00000542537.1_Missense_Mutation_p.S2409Y|RYR2_ENST00000360064.6_Missense_Mutation_p.S2423Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2425	4 X approximate repeats.				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)			ATTTTGAGATCCCTCATTCCC	0.423000													35	81					4.11147e-13	5.14907e-13	1	1	0
CLINT1	9685	broad.mit.edu	37	5	157218892	157218892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:157218892G>A	ENST00000523094.1	-	10	1350	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	CLINT1_ENST00000411809.2_Missense_Mutation_p.A400V|CLINT1_ENST00000296951.5_Missense_Mutation_p.A382V|CLINT1_ENST00000530742.1_Missense_Mutation_p.A382V|CLINT1_ENST00000523908.1_Missense_Mutation_p.A400V	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	400					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGTTCTACCGCTGGCTGTGA	0.547000													36	22					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88968011	88968011	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:88968011G>T	ENST00000237596.2	+	6	1603	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	513						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCTGGATGTTGTGATCGTTGT	0.363000													32	41					8.16721e-17	1.06657e-16	1	1	0
OPN5	221391	broad.mit.edu	37	6	47749839	47749839	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:47749839C>A	ENST00000489301.2	+	1	122	c.37C>A	c.(37-39)Cgc>Agc	p.R13S	OPN5_ENST00000393699.2_Missense_Mutation_p.R13S|OPN5_ENST00000371211.2_Missense_Mutation_p.R13S			Q6U736	OPN5_HUMAN	opsin 5	13					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCAGGACGAGCGCCTGCCCCA	0.478000													33	25					2.80507e-11	3.40555e-11	1	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296495	39296495	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:39296495G>C	ENST00000345847.4	-	1	244	c.245C>G	c.(244-246)cCt>cGt	p.P82R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	78	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ACAGCAGCTAGGGCGGCAGCA	0.652000													23	41					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57194381	57194381	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:57194381C>A	ENST00000331162.4	-	3	354	c.84G>T	c.(82-84)gaG>gaT	p.E28D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATTGCCATTCCTCCAGAGAGA	0.438000													44	78					1.61004e-24	2.2828e-24	1	1	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284617	43284617	+	RNA	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:43284617C>T	ENST00000511537.1	-	0	318					NR_033868.1																						AGCCTCAATTCGCAATCAAAG	0.398000													9	15					0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69704568	69704568	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:69704568G>T	ENST00000409014.1	+	10	1851	c.1194G>T	c.(1192-1194)ctG>ctT	p.L398L	EXD2_ENST00000449989.1_Silent_p.L398L|EXD2_ENST00000409949.1_Silent_p.L398L|EXD2_ENST00000409675.1_Silent_p.L398L|EXD2_ENST00000409242.1_Silent_p.L398L|EXD2_ENST00000409018.3_Silent_p.L523L|EXD2_ENST00000312994.5_Silent_p.L523L|EXD2_ENST00000492815.1_3'UTR	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	398					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AGGAGGAGCTGCTGCAAGCAC	0.587000													10	26					9.70103e-10	1.14622e-09	1	1	0
PPP2R3A	5523	broad.mit.edu	37	3	135721837	135721837	+	Silent	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:135721837T>C	ENST00000264977.3	+	2	2114	c.1497T>C	c.(1495-1497)gaT>gaC	p.D499D	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	499					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACCAGAGAGATTTTACAAATT	0.338000													27	67					0	0	1	0	0
THAP8	199745	broad.mit.edu	37	19	36530944	36530944	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:36530944C>G	ENST00000292894.1	-	2	722	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	THAP8_ENST00000538849.1_Intron|AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000524106.1_5'UTR	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	60							DNA binding|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGAAGTGCTCGCTGCACAAG	0.652000													23	54					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24167434	24167434	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:24167434A>T	ENST00000265769.4	+	3	288	c.178A>T	c.(178-180)Aaa>Taa	p.K60*	ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Nonsense_Mutation_p.K60*|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	60					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATTAAAGTATAAAATGACAAT	0.274000													9	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066714	9066714	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:9066714G>T	ENST00000397910.4	-	3	20935	c.20732C>A	c.(20731-20733)aCc>aAc	p.T6911N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6913	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGGCCTTGGTTTTTTCTGA	0.478000													59	200					1.44317e-28	2.12199e-28	1	1	0
CACNB2	783	broad.mit.edu	37	10	18827231	18827231	+	Silent	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:18827231C>G	ENST00000396576.2	+	12	1761	c.1260C>G	c.(1258-1260)ctC>ctG	p.L420L	CACNB2_ENST00000377319.3_Silent_p.L382L|CACNB2_ENST00000377331.2_Silent_p.L423L|CACNB2_ENST00000377329.4_Silent_p.L421L|CACNB2_ENST00000282343.8_Silent_p.L447L|CACNB2_ENST00000377328.1_Silent_p.L225L|CACNB2_ENST00000324631.7_Silent_p.L475L|CACNB2_ENST00000377315.4_Silent_p.L427L|CACNB2_ENST00000352115.6_Silent_p.L451L|RP11-499P20.2_ENST00000425669.1_RNA	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	475					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAACCCTCTCCTTAGCCGTA	0.502000													70	204					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651162	1651162	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:1651162G>T	ENST00000399676.2	+	1	130	c.92G>T	c.(91-93)tGt>tTt	p.C31F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	31				C -> R (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		tgtggaggctgtggctctggc	0.716000													6	200					0.00621372	0.00630907	1	1	0
TUBD1	51174	broad.mit.edu	37	17	57955549	57955549	+	Silent	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:57955549A>G	ENST00000325752.3	-	5	961	c.684T>C	c.(682-684)aaT>aaC	p.N228N	TUBD1_ENST00000592426.1_Silent_p.N228N|TUBD1_ENST00000394239.3_Silent_p.N228N|TUBD1_ENST00000376094.4_Silent_p.N228N|TUBD1_ENST00000539018.1_Silent_p.N12N|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Silent_p.N228N	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	228					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			CGAGGACTTGATTGATATCAC	0.433000													17	63					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31652520	31652520	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr20:31652520C>T	ENST00000375494.3	+	8	793	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	265					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CCCCAAGTCCCGTGCCCCAGC	0.582000													18	127					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246666	113246666	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:113246666T>C	ENST00000297405.5	-	68	10912	c.10668A>G	c.(10666-10668)atA>atG	p.I3556M	CSMD3_ENST00000455883.2_Missense_Mutation_p.I3387M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I3516M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I3486M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3556						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAATAAGATATATGCGTAACA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			157	71					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60591152	60591152	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:60591152G>T	ENST00000406854.1	+	9	2817	c.2263G>T	c.(2263-2265)Gaa>Taa	p.E755*	PCNXL4_ENST00000317623.4_Nonsense_Mutation_p.E521*|PCNXL4_ENST00000406949.1_Nonsense_Mutation_p.E521*|PCNXL4_ENST00000404681.2_Nonsense_Mutation_p.E755*|PCNXL4_ENST00000535349.1_5'UTR					pecanex-like 4 (Drosophila)																		AAACTTAAAAGAATTTAAAGG	0.363000													7	84					5.18039e-06	5.72873e-06	1	1	0
PPEF2	5470	broad.mit.edu	37	4	76813035	76813035	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:76813035A>G	ENST00000286719.7	-	3	508	c.152T>C	c.(151-153)aTa>aCa	p.I51T		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	51					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGCATATTCTATAGACTGGAA	0.592000													42	50					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436459	179436459	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:179436459G>T	ENST00000589042.1	-	326	74624	c.74400C>A	c.(74398-74400)acC>acA	p.T24800T	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.T15735T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.T15860T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.T22232T|TTN_ENST00000342175.6_Silent_p.T15927T|TTN_ENST00000591111.1_Silent_p.T23159T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23159	Fibronectin type-III 80.						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)			TAACATTAAGGGTTTCAATAG	0.438000													34	42					4.3181e-19	5.81114e-19	1	1	0
FEM1A	55527	broad.mit.edu	37	19	4792850	4792850	+	Silent	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:4792850G>A	ENST00000269856.3	+	1	1123	c.984G>A	c.(982-984)ctG>ctA	p.L328L	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	328					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCATGGAGCTGCGTCACCAGG	0.602000													16	66					0	0	1	0	0
C19orf73	55150	broad.mit.edu	37	19	49622086	49622086	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:49622086C>A	ENST00000408991.2	-	1	311	c.194G>T	c.(193-195)cGg>cTg	p.R65L		NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	65										large_intestine(1)|lung(2)	3						TAGCCTCGTCCGCCGGGGGAA	0.701000													39	50					2.19358e-23	3.08812e-23	1	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156726337	156726337	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:156726337C>T	ENST00000264424.8	+	13	1874	c.1792C>T	c.(1792-1794)Cca>Tca	p.P598S	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.P620S|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.P530S|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.P578S|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.P565S|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.P573S|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.P530S	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	598					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CAAAAAAGAACCAATGCAAGT	0.388000													13	18					0	0	1	0	0
CCBL2	56267	broad.mit.edu	37	1	89418758	89418758	+	Silent	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:89418758T>A	ENST00000260508.4	-	10	1279	c.942A>T	c.(940-942)gcA>gcT	p.A314A	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Silent_p.A280A	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	314					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTAAAGGAGTTGCACAAGTAT	0.338000													13	16					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172737301	172737301	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:172737301G>T	ENST00000351008.3	-	4	1006	c.823C>A	c.(823-825)Ctg>Atg	p.L275M		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	275					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TACCTCTCCAGACATCTAAAC	0.348000													66	168					2.0493e-37	3.08171e-37	1	1	0
AUTS2	26053	broad.mit.edu	37	7	70227908	70227908	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:70227908G>T	ENST00000342771.4	+	7	1116	c.795G>T	c.(793-795)ggG>ggT	p.G265G	AUTS2_ENST00000406775.2_Silent_p.G265G	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	265										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGGATGCAGGGCCGATTGTCC	0.527000													51	213					1.39843e-22	1.94799e-22	1	1	0
ELP4	26610	broad.mit.edu	37	11	31531491	31531491	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:31531491C>T	ENST00000395934.2	+	1	167	c.160C>T	c.(160-162)Ccg>Tcg	p.P54S	ELP4_ENST00000350638.5_Missense_Mutation_p.P54S|ELP4_ENST00000379163.5_Missense_Mutation_p.P54S			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	54					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GGGCACGCGACCGTCGGTGCG	0.637000													20	88					0	0	1	0	0
ARL13B	200894	broad.mit.edu	37	3	93714737	93714737	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:93714737G>T	ENST00000394222.3	+	2	354	c.79G>T	c.(79-81)Gtg>Ttg	p.V27L	ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.V27L|ARL13B_ENST00000303097.7_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	27							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TCTTTTGATGGTGGGACTTGA	0.294000													11	29					3.86212e-05	4.21226e-05	1	1	0
CCDC88C	440193	broad.mit.edu	37	14	91755457	91755457	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:91755457A>G	ENST00000389857.6	-	25	4519	c.4433T>C	c.(4432-4434)gTg>gCg	p.V1478A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1478					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACCTTTCCCCACAGACCCGTT	0.687000													5	36					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709	by1000genomes	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219																		p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													8	189					0	0	1	0	0
IGHD5-12	28491	broad.mit.edu	37	14	106368512	106368512	+	RNA	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:106368512C>A	ENST00000390581.1	-	0	17																											CTGTGGTAATCGTAGCCACTA	0.607000													38	23					1.96642e-18	2.60223e-18	1	1	0
ZNF724P	440519	broad.mit.edu	37	19	23405764	23405764	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:23405764C>A	ENST00000418100.1	-	4	1400	c.1283G>T	c.(1282-1284)gGc>gTc	p.G428V																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						AAAGGCTTTGCCACATTCTTC	0.388000													8	41					0.00621372	0.00630907	1	1	0
PRPF8	10594	broad.mit.edu	37	17	1576445	1576445	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:1576445T>C	ENST00000572621.1	-	23	3969	c.3704A>G	c.(3703-3705)gAg>gGg	p.E1235G	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1235G			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1235						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTGCATTGACTCATCGTCCAC	0.547000													58	24					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298666	107298666	+	Silent	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:107298666C>G	ENST00000374781.2	-	1	471	c.429G>C	c.(427-429)ctG>ctC	p.L143L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGCCAAGAAGCAGACATTCTG	0.453000													12	336					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156920125	156920125	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:156920125G>T	ENST00000257527.4	-	16	1842	c.1764C>A	c.(1762-1764)aaC>aaA	p.N588K	ADAM19_ENST00000517905.1_Missense_Mutation_p.N588K|ADAM19_ENST00000394020.1_Missense_Mutation_p.N590K|ADAM19_ENST00000430702.2_Missense_Mutation_p.N321K	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	588	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGGCACCGCGTTGGACTCCA	0.597000													37	31					4.90274e-10	5.82751e-10	1	1	0
TACR3	6870	broad.mit.edu	37	4	104512796	104512796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:104512796G>T	ENST00000304883.2	-	4	1073	c.933C>A	c.(931-933)tgC>tgA	p.C311*	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	311						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGGGCAGCCAGCAGATAGCAA	0.343000													16	13					6.31663e-08	7.16486e-08	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5461973	5461973	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:5461973C>A	ENST00000296564.7	+	13	2748	c.2526C>A	c.(2524-2526)aaC>aaA	p.N842K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	842										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGAAAATAACAATCCTGTAG	0.408000													38	20					1.36161e-19	1.83864e-19	1	1	0
CSTF2	1478	broad.mit.edu	37	X	100087825	100087825	+	Silent	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:100087825C>T	ENST00000415585.2	+	11	1216	c.1194C>T	c.(1192-1194)ccC>ccT	p.P398P	CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Silent_p.P378P			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	378	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GGCCATTACCCGAGCCCAGAC	0.582000													15	4					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26509930	26509930	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:26509930A>T	ENST00000311151.5	+	12	1851	c.1439A>T	c.(1438-1440)aAg>aTg	p.K480M	DPYSL2_ENST00000521913.1_Missense_Mutation_p.K444M|DPYSL2_ENST00000523027.1_Missense_Mutation_p.K444M	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	480					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TTTGTTTACAAGCGTATCAAG	0.463000													14	49					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48025991	48025991	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:48025991T>C	ENST00000234420.4	+	4	1021	c.869T>C	c.(868-870)cTg>cCg	p.L290P	MSH6_ENST00000540021.1_Missense_Mutation_p.L160P|MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	290					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTGAAGGCCTGAACAGCCCT	0.493000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	233					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42563568	42563568	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:42563568C>A	ENST00000262895.3	-	5	619	c.620G>T	c.(619-621)cGt>cTt	p.R207L	GRIK5_ENST00000593562.1_Missense_Mutation_p.R207L|GRIK5_ENST00000301218.4_Missense_Mutation_p.R207L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	207						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTTGTCATCACGGATCTCCTT	0.572000													32	73					3.86903e-22	5.31489e-22	1	1	0
MME	4311	broad.mit.edu	37	3	154832816	154832816	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:154832816C>A	ENST00000460393.1	+	4	350	c.230C>A	c.(229-231)aCt>aAt	p.T77N	MME_ENST00000462745.1_Missense_Mutation_p.T77N|MME_ENST00000493237.1_Missense_Mutation_p.T77N|MME_ENST00000492661.1_Missense_Mutation_p.T77N|MME_ENST00000477669.1_3'UTR|MME_ENST00000360490.2_Missense_Mutation_p.T77N	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	77					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GATGCCACCACTGAGCCTTGT	0.428000													36	94					2.87052e-16	3.73638e-16	1	1	0
DDX23	9416	broad.mit.edu	37	12	49226266	49226266	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:49226266C>T	ENST00000308025.3	-	14	1973	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	632						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GGCTTGCCTGCGGAGCCAATG	0.577000													13	67					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110172028	110172028	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:110172028C>A	ENST00000256578.3	+	14	2300	c.1940C>A	c.(1939-1941)gCg>gAg	p.A647E	AMPD2_ENST00000528454.1_Missense_Mutation_p.A529E|AMPD2_ENST00000342115.4_Missense_Mutation_p.A566E|AMPD2_ENST00000393688.3_Missense_Mutation_p.A528E|AMPD2_ENST00000528667.1_Missense_Mutation_p.A647E|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Missense_Mutation_p.A572E	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	647					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCCTGAGGCGTGGGTGGAG	0.562000													58	231					1.19553e-41	1.82548e-41	1	1	0
NWD1	284434	broad.mit.edu	37	19	16860954	16860954	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:16860954C>A	ENST00000524140.2	+	6	1919	c.1501C>A	c.(1501-1503)Cag>Aag	p.Q501K	NWD1_ENST00000552788.1_Missense_Mutation_p.Q501K|NWD1_ENST00000549814.1_Missense_Mutation_p.Q501K|NWD1_ENST00000523826.1_Missense_Mutation_p.Q295K|NWD1_ENST00000339803.6_Missense_Mutation_p.Q366K|NWD1_ENST00000379808.3_Missense_Mutation_p.Q501K	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	501	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAACCAAGGCCAGCAGATGAT	0.637000													28	63					9.78306e-22	1.33467e-21	1	1	0
ACVR1	90	broad.mit.edu	37	2	158595049	158595049	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:158595049T>A	ENST00000263640.3	-	10	1727	c.1298A>T	c.(1297-1299)gAt>gTt	p.D433V	ACVR1_ENST00000434821.1_Missense_Mutation_p.D433V|ACVR1_ENST00000409283.2_Missense_Mutation_p.D433V|ACVR1_ENST00000410057.2_Missense_Mutation_p.D433V	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	433	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GGGAACCACATCGTAGAACGG	0.463000													29	101					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467869	10467869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:10467869G>A	ENST00000382483.3	-	4	3962	c.3739C>T	c.(3739-3741)Cca>Tca	p.P1247S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1247					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGATCCCCTGGGCTCTCATAA	0.552000													17	31					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108357186	108357186	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:108357186G>T	ENST00000263054.6	-	24	3195	c.3188C>A	c.(3187-3189)aCg>aAg	p.T1063K	SORCS1_ENST00000369698.1_Missense_Mutation_p.T598K|SORCS1_ENST00000344440.6_Missense_Mutation_p.T1063K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1063						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTGGTTGAGCGTGTGGATCAG	0.428000													9	47					0.00448238	0.00461012	1	1	0
ASIC5	51802	broad.mit.edu	37	4	156784710	156784710	+	Silent	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:156784710C>T	ENST00000537611.2	-	2	283	c.237G>A	c.(235-237)caG>caA	p.Q79Q	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	79						integral to membrane|plasma membrane											GAATGTAGATCTGCCATGTCA	0.468000													9	36					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099503	142099503	+	RNA	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:142099503C>A	ENST00000390359.3	-	0	337																											CTGCTGTGTGCGCTGGATCTT	0.537000													14	55					0.0167234	0.0168507	1	1	0
FRY	10129	broad.mit.edu	37	13	32757164	32757164	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr13:32757164G>T	ENST00000380250.3	+	24	3543	c.3047G>T	c.(3046-3048)aGa>aTa	p.R1016I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGGAAAGAAGACCAGAGGTA	0.318000													20	9					2.4624e-09	2.87521e-09	1	1	0
RNF150	57484	broad.mit.edu	37	4	141888963	141888963	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:141888963C>A	ENST00000306799.3	-	2	1202	c.549G>T	c.(547-549)ctG>ctT	p.L183L	RNF150_ENST00000420921.2_Silent_p.L42L|RNF150_ENST00000515673.1_Silent_p.L183L|RNF150_ENST00000507500.1_Silent_p.L183L|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000379512.2_Silent_p.L42L	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	183	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TGTTTCTTTCCAGCAGGCTTA	0.478000													59	102					3.76997e-23	5.26999e-23	1	1	0
ATP6AP1L	92270	broad.mit.edu	37	5	81614007	81614007	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:81614007A>T	ENST00000380167.4	+	10	1888	c.563A>T	c.(562-564)cAc>cTc	p.H188L	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.H188L			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	188					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TCTCCTGCCCACTTCTCGCAG	0.537000													37	12					0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86820356	86820356	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:86820356C>A	ENST00000359242.3	-	16	1905	c.1624G>T	c.(1624-1626)Gca>Tca	p.A542S	ODF2L_ENST00000317336.7_Missense_Mutation_p.A542S|ODF2L_ENST00000370566.3_Missense_Mutation_p.A460S|ODF2L_ENST00000394731.1_Missense_Mutation_p.A382S|ODF2L_ENST00000294678.2_Missense_Mutation_p.A526S|ODF2L_ENST00000370567.1_Missense_Mutation_p.A513S	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	542						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTATTTTCTGCGTCCATCTGT	0.313000													18	25					6.94344e-10	8.2285e-10	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238275606	238275606	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:238275606G>T	ENST00000295550.4	-	11	5676	c.5224C>A	c.(5224-5226)Cgg>Agg	p.R1742R	COL6A3_ENST00000472056.1_Silent_p.R1135R|COL6A3_ENST00000353578.4_Silent_p.R1536R|COL6A3_ENST00000409809.1_Silent_p.R1536R|COL6A3_ENST00000347401.3_Silent_p.R1541R|COL6A3_ENST00000346358.4_Silent_p.R1542R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1742	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGAGGGACCCGCTGGTCCAGG	0.592000													25	19					4.4004e-07	4.93491e-07	1	1	0
IGHG3	3502	broad.mit.edu	37	14	106236827	106236827	+	RNA	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:106236827G>T	ENST00000390551.2	-	0	380																											CCTGGGCACCGTGGGCACGGG	0.637000													4	118					0.00909568	0.00918826	1	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254871	30254871	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:30254871C>G	ENST00000361644.2	+	5	1567	c.830C>G	c.(829-831)cCa>cGa	p.P277R	MAGEB3_ENST00000378986.1_Missense_Mutation_p.P277R	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	277	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CTGTGGGGTCCAAGAGCCCAT	0.498000													15	14					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101591346	101591346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:101591346C>T	ENST00000335681.5	+	13	1507	c.1222C>T	c.(1222-1224)Cca>Tca	p.P408S	AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.P473S|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	408					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGTCATTCGCCATCGGCGTC	0.547000													13	31					0	0	1	0	0
COA6	388753	broad.mit.edu	37	1	234509385	234509385	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:234509385G>T	ENST00000366615.4	+	1	184	c.173G>T	c.(172-174)cGt>cTt	p.R58L		NM_001206641.1	NP_001193570.1			cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		GTTTCCTCCCGTCGACATCGA	0.687000													56	129					2.3441e-25	3.33551e-25	1	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399422	89399422	+	RNA	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:89399422G>T	ENST00000479981.1	-	0	307																											GATGGTGAGAGTGAAATCTGT	0.478000													83	161					5.71645e-57	8.89973e-57	1	1	0
PLXND1	23129	broad.mit.edu	37	3	129286540	129286540	+	Splice_Site	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:129286540C>A	ENST00000393239.1	-	21	4152		c.e21+1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane		p.?(1)	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						CCGCCCACTACCTTTGCGGAT	0.612000													9	32					0.000442599	0.000469818	1	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27998998	27998998	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:27998998G>C	ENST00000441525.1	-	1	568	c.454C>G	c.(454-456)Cga>Gga	p.R152G		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	152										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CAGCGAGATCGGGGCAGGGCA	0.567000													4	6					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109793138	109793138	+	Silent	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr13:109793138C>T	ENST00000356711.2	+	32	4638	c.4512C>T	c.(4510-4512)ccC>ccT	p.P1504P	MYO16_ENST00000357550.2_Silent_p.P1504P	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1504	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTGCTCCCCCGCCTCCGACG	0.726000													15	4					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173437	5173437	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:5173437G>A	ENST00000380367.1	-	2	580	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R55C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	55					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAGACTGCGCTCAGATTTG	0.443000													15	38					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	57					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480110	73480110	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:73480110A>C	ENST00000523207.1	+	2	729	c.141A>C	c.(139-141)gaA>gaC	p.E47D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	47					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCAACCACGAAGTCCTGTGGA	0.567000													27	177					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223165426	223165426	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:223165426A>G	ENST00000284476.6	+	6	1027	c.863A>G	c.(862-864)aAg>aGg	p.K288R	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	288					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AACTTCCACAAGGACAGCTTT	0.403000													20	33					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120422353	120422353	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:120422353A>G	ENST00000354960.3	-	20	2781	c.2462T>C	c.(2461-2463)aTa>aCa	p.I821T	PDE5A_ENST00000394439.1_Missense_Mutation_p.I769T|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.I779T	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	821	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GATGGCATCTATGAACCCAAC	0.348000													16	22					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53227957	53227957	+	Missense_Mutation	SNP	G	G	A	rs142757937	byFrequency	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:53227957G>A	ENST00000330553.5	-	1	122	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	30	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCTGGTGCGGGCCTGGGAC	0.647000													21	55					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764848	138764848	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:138764848C>A	ENST00000242351.5	-	4	1155	c.839G>T	c.(838-840)aGc>aTc	p.S280I	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S280I|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S280I	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	280					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AGCCCTGTGGCTGATCTGATC	0.587000													28	129					1.5548e-18	2.0644e-18	1	1	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994014	45994014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr21:45994014C>T	ENST00000400374.3	+	1	409	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	127	36 X 5 AA repeats of C-C-X(3).					keratin filament		p.P127S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GTGCTGTGTGCCCGTCTGCTG	0.642000													4	166					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512638	61512638	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr20:61512638T>C	ENST00000266070.4	-	16	4995	c.4670A>G	c.(4669-4671)cAc>cGc	p.H1557R	DIDO1_ENST00000395343.1_Missense_Mutation_p.H1557R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1557					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)					GGGGTCCCTGTGGTTTGACGC	0.692000													104	66					0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987549	50987549	+	Silent	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr22:50987549A>G	ENST00000395676.2	+	1	1088	c.954A>G	c.(952-954)ctA>ctG	p.L318L		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	318										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTGCCTCTACCTGCGCACC	0.721000													29	45					0	0	1	0	0
REPIN1	29803	broad.mit.edu	37	7	150069096	150069096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:150069096C>T	ENST00000397281.2	+	4	1255	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Missense_Mutation_p.R256C|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Missense_Mutation_p.R313C|REPIN1_ENST00000425389.2_Missense_Mutation_p.R256C|REPIN1_ENST00000444957.1_Missense_Mutation_p.R256C	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	256					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGCTCACCGCCGCGTGCACAC	0.682000													8	30					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60760373	60760373	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:60760373G>A	ENST00000261520.4	-	4	529	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	NARG2_ENST00000561114.1_Missense_Mutation_p.R99C|NARG2_ENST00000439632.1_Intron|NARG2_ENST00000558654.1_Intron	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	99						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TGTGAGAAACGAGAGAAACGA	0.393000													25	20					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815227	147815227	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:147815227G>T	ENST00000361727.3	+	16	2917	c.2401G>T	c.(2401-2403)Gcc>Tcc	p.A801S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	801	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTGGAATGCCGCCTCTTTCCC	0.443000										HNSCC(39;0.1)			49	48					2.47907e-22	3.42923e-22	1	1	0
STX4	6810	broad.mit.edu	37	16	31051061	31051061	+	Silent	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:31051061C>T	ENST00000394998.1	+	11	1168	c.825C>T	c.(823-825)gcC>gcT	p.A275A	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Silent_p.A277A	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	277	Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TCTTGATTGCCATCTGTGTGT	0.582000													81	177					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340420	100340420	+	RNA	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:100340420G>T	ENST00000341853.1	-	0	506					NR_003260.1																						CCACGCGAGCGCAGGTTGGAC	0.602000													11	9					4.14922e-12	5.09981e-12	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618657	77618657	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:77618657C>A	ENST00000521891.2	+	2	2782	c.2334C>A	c.(2332-2334)gtC>gtA	p.V778V	ZFHX4_ENST00000455469.2_Silent_p.V778V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.V778V|ZFHX4_ENST00000050961.6_Silent_p.V778V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	778						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAACCAATGTCGCCAGGAACC	0.498000										HNSCC(33;0.089)			11	45					0.000978159	0.00102733	1	1	0
SPATC1	375686	broad.mit.edu	37	8	145095915	145095915	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:145095915C>G	ENST00000377470.3	+	3	1315	c.1213C>G	c.(1213-1215)Cca>Gca	p.P405A	SPATC1_ENST00000447830.2_Missense_Mutation_p.P405A	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	405										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCTCGAGGTCCACGCACCAC	0.622000													15	136					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173436	5173436	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:5173436C>G	ENST00000380367.1	-	2	581	c.164G>C	c.(163-165)cGc>cCc	p.R55P	OR52A1_ENST00000328942.1_Missense_Mutation_p.R55P			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	55					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGAGACTGCGCTCAGATTT	0.443000													14	36					0	0	1	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177822	70177822	+	Silent	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:70177822T>C	ENST00000377420.1	-	1	993	c.162A>G	c.(160-162)tcA>tcG	p.S54S		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	54					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						CCGGCTGGAGTGACTGCTCTA	0.642000													4	65					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41754431	41754431	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:41754431G>A	ENST00000301178.4	+	13	1740	c.1550G>A	c.(1549-1551)gGc>gAc	p.G517D	AXL_ENST00000593513.1_Missense_Mutation_p.G249D|AXL_ENST00000359092.3_Missense_Mutation_p.G508D	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	517						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AACAGCCTGGGCATCAGTGAA	0.582000													30	39					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11082914	11082914	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:11082914C>A	ENST00000304623.8	-	16	2871	c.2682G>T	c.(2680-2682)ctG>ctT	p.L894L	CTNND2_ENST00000458100.2_Silent_p.L461L|CTNND2_ENST00000511377.1_Silent_p.L803L|CTNND2_ENST00000359640.2_Silent_p.L836L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.L557L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	894				L -> R (in Ref. 1; AAC63103 and 11; AAB96357).	multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CGAGGATGGGCAGGCCTTTCT	0.552000													17	66					1.56452e-12	1.93494e-12	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22396327	22396327	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:22396327C>A	ENST00000263160.3	+	9	1505	c.1068C>A	c.(1066-1068)caC>caA	p.H356Q		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	356					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTGTGCCACACTTAGTAATGA	0.363000													59	155					1.19403e-26	1.71751e-26	1	1	0
RSPO3	84870	broad.mit.edu	37	6	127471623	127471623	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:127471623T>A	ENST00000356698.4	+	3	931	c.342T>A	c.(340-342)tgT>tgA	p.C114*	RSPO3_ENST00000368317.3_Nonsense_Mutation_p.C114*|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	114						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GCACAAAATGTAAAAGTGGAT	0.373000													36	21					0	0	1	0	0
USP39	10713	broad.mit.edu	37	2	85868160	85868160	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:85868160A>G	ENST00000323701.6	+	10	1356	c.1346A>G	c.(1345-1347)tAt>tGt	p.Y449C	USP39_ENST00000409766.3_Missense_Mutation_p.Y449C|USP39_ENST00000409470.1_Missense_Mutation_p.Y449C|USP39_ENST00000409025.1_Missense_Mutation_p.Y449C|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Missense_Mutation_p.Y346C	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	449					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTGCCTCCATATCTAATCTTT	0.358000													19	28					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16464805	16464805	+	Missense_Mutation	SNP	C	C	T	rs139176878	byFrequency	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:16464805C>T	ENST00000358432.5	-	4	1098	c.944G>A	c.(943-945)cGg>cAg	p.R315Q		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	315	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTGAGGTGCCCGGAAGAAGCC	0.632000													5	10					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51394511	51394511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:51394511G>T	ENST00000266037.9	+	44	4645	c.4622G>T	c.(4621-4623)aGc>aTc	p.S1541I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1541	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AACCTGCTAAGCATGTGCCTG	0.517000													20	74					6.33239e-15	8.05756e-15	1	1	0
INPP5D	3635	broad.mit.edu	37	2	234072460	234072460	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:234072460G>A	ENST00000359570.5	+	14	1312	c.1312G>A	c.(1312-1314)Ggc>Agc	p.G438S	INPP5D_ENST00000455936.2_Missense_Mutation_p.G202S|INPP5D_ENST00000450745.1_Missense_Mutation_p.G202S|INPP5D_ENST00000538935.1_Missense_Mutation_p.G437S			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	450					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTACGTGATCGGCACCCAAGA	0.552000													39	37					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125320815	125320815	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:125320815A>T	ENST00000431078.1	+	11	2032	c.1668A>T	c.(1666-1668)gaA>gaT	p.E556D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	556	EGF-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTACTGTGAACATGGAGGAA	0.413000													3	10					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15937219	15937219	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:15937219C>A	ENST00000504595.1	+	4	1881	c.1400C>A	c.(1399-1401)tCc>tAc	p.S467Y	FBXL7_ENST00000510662.1_Missense_Mutation_p.S420Y|FBXL7_ENST00000329673.7_Missense_Mutation_p.S455Y	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	467					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.S467F(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGCGAGGTCTCCGTGGAGGCC	0.607000													16	14					4.7546e-09	5.48714e-09	1	1	0
OR52A5	390054	broad.mit.edu	37	11	5153280	5153280	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:5153280T>C	ENST00000307388.1	-	1	592	c.593A>G	c.(592-594)aAc>aGc	p.N198S		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATATATCTTGTTGACTCGGAT	0.398000													68	84					0	0	1	0	0
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562000													5	331					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413564	121413564	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:121413564C>A	ENST00000393667.3	-	13	5916	c.5806G>T	c.(5806-5808)Gca>Tca	p.A1936S	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A1931S	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1931					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTAAGTTCTGCTAATTGATTC	0.363000													81	77					8.6838e-40	1.31583e-39	1	1	0
PRKG1	5592	broad.mit.edu	37	10	53227588	53227588	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:53227588C>A	ENST00000373980.4	+	3	1001	c.584C>A	c.(583-585)aCc>aAc	p.T195N	PRKG1_ENST00000401604.2_Missense_Mutation_p.T180N|PRKG1_ENST00000373985.1_Missense_Mutation_p.T168N	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	180					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CGGACAGCGACCGTCAAGAGT	0.363000													10	22					1.76689e-08	2.01568e-08	1	1	0
TAS2R31	259290	broad.mit.edu	37	12	11183120	11183120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:11183120G>A	ENST00000390675.2	-	1	886	c.815C>T	c.(814-816)cCt>cTt	p.P272L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	272					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						GTGGATTGAAGGATAGCTGAA	0.418000													117	218					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10100636	10100636	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:10100636C>A	ENST00000382452.2	-	4	639	c.357G>T	c.(355-357)gtG>gtT	p.V119V	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Silent_p.V119V	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	119					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTTCCCCGACCACGGCGATCC	0.557000													16	84					5.01169e-05	5.43618e-05	1	1	0
HHIP	64399	broad.mit.edu	37	4	145580832	145580832	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:145580832G>T	ENST00000296575.3	+	4	1328	c.673G>T	c.(673-675)Ggg>Tgg	p.G225W	HHIP_ENST00000434550.2_Missense_Mutation_p.G225W|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	225						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGTTGTGAGTGGGCTGCGGCA	0.463000													69	138					6.5469e-37	9.808e-37	1	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764847	138764847	+	Silent	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:138764847G>A	ENST00000242351.5	-	4	1156	c.840C>T	c.(838-840)agC>agT	p.S280S	ZC3HAV1_ENST00000464606.1_Silent_p.S280S|ZC3HAV1_ENST00000471652.1_Silent_p.S280S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	280					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AAGCCCTGTGGCTGATCTGAT	0.587000													29	127					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97874006	97874006	+	Splice_Site	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:97874006C>G	ENST00000447648.2	-	5	708		c.e5-1		TECPR1_ENST00000379795.3_Splice_Site|TECPR1_ENST00000542604.1_Splice_Site			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1							integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGTCCACCCCTGAAACACCA	0.587000													51	65					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820008	50820008	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:50820008C>A	ENST00000374115.3	+	1	1662	c.1222C>A	c.(1222-1224)Ctg>Atg	p.L408M	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	408					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTCGCCTTCCTGGTGGACGT	0.642000													6	28					0.00307968	0.00317567	1	1	0
CYP4A11	1579	broad.mit.edu	37	1	47399621	47399621	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:47399621T>G	ENST00000310638.4	-	9	1250	c.1219A>C	c.(1219-1221)Aaa>Caa	p.K407Q	CYP4A11_ENST00000371905.1_Missense_Mutation_p.K407Q|CYP4A11_ENST00000371904.4_Missense_Mutation_p.K408Q|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	407					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TTCATACCTTTGGGCAAGGAG	0.562000													6	29					0	0	1	0	0
RASSF3	283349	broad.mit.edu	37	12	65078646	65078646	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:65078646C>T	ENST00000542104.1	+	2	311	c.191C>T	c.(190-192)gCa>gTa	p.A64V	RASSF3_ENST00000336061.2_Missense_Mutation_p.A64V	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	64					signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		TACAACTTAGCAGTCACAGAC	0.358000													24	23					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126732333	126732333	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:126732333G>T	ENST00000274473.6	+	7	789	c.522G>T	c.(520-522)cgG>cgT	p.R174R	MEGF10_ENST00000508365.1_Silent_p.R174R|MEGF10_ENST00000503335.2_Silent_p.R174R|MEGF10_ENST00000418761.2_Silent_p.R174R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	174	EGF-like 2.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CGGGCTTCCGGGGCTGGCGCT	0.642000													70	40					1.31726e-23	1.86104e-23	1	1	0
AR	367	broad.mit.edu	37	X	66905872	66905872	+	Missense_Mutation	SNP	G	G	T	rs137852569		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:66905872G>T	ENST00000374690.3	+	3	2313	c.1789G>T	c.(1789-1791)Gcc>Tcc	p.A597S	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.A597S|AR_ENST00000396044.3_Missense_Mutation_p.A597S|AR_ENST00000396043.2_Missense_Mutation_p.A65S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	596	Interaction with HIPK3 (By similarity).		S -> G (in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors).|S -> T (in a patient with severe hypospadias).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GTACCTGTGCGCCAGCAGAAA	0.413000									Androgen Insensitivity Syndrome				15	8					1.05317e-09	1.23701e-09	1	1	0
ARL13B	200894	broad.mit.edu	37	3	93714736	93714736	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:93714736G>T	ENST00000394222.3	+	2	353	c.78G>T	c.(76-78)atG>atT	p.M26I	ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.M26I|ARL13B_ENST00000303097.7_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	26							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						CTCTTTTGATGGTGGGACTTG	0.289000													11	29					3.86212e-05	4.21226e-05	1	1	0
DPP6	1804	broad.mit.edu	37	7	154263980	154263980	+	Silent	SNP	T	T	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:154263980T>G	ENST00000404039.1	+	5	1001	c.414T>G	c.(412-414)ctT>ctG	p.L138L	DPP6_ENST00000427557.1_Silent_p.L140L|DPP6_ENST00000406326.1_Silent_p.L202L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Silent_p.L140L|DPP6_ENST00000377770.3_Silent_p.L202L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	202					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGTATGCACTTTTTTCATACA	0.289000													9	23					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180683	142180683	+	RNA	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:142180683C>A	ENST00000390368.2	-	0	241																											CAGCCCCATGCCTGGGTCTTG	0.502000													57	368					7.47603e-22	1.02344e-21	1	1	0
HIST1H3A	8350	broad.mit.edu	37	6	26020994	26020994	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:26020994C>A	ENST00000357647.3	+	1	277	c.277C>A	c.(277-279)Ctg>Atg	p.L93M		NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	93					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGTGATGGCTCTGCAGGAGGC	0.552000													28	12					1.77063e-15	2.26755e-15	1	1	0
SPATA18	132671	broad.mit.edu	37	4	52944914	52944914	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:52944914T>A	ENST00000295213.4	+	8	1408	c.1034T>A	c.(1033-1035)gTa>gAa	p.V345E	SPATA18_ENST00000419395.2_Missense_Mutation_p.V313E	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	345					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCATTCCATGTAGCAAAAATG	0.393000													14	48					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961583	1961583	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:1961583C>A	ENST00000378585.4	+	9	1304	c.1221C>A	c.(1219-1221)gcC>gcA	p.A407A		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	407						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		AGGGGGCAGCCCGCTCAGGAG	0.697000													43	16					1.57945e-13	1.98431e-13	1	1	0
ABCG4	64137	broad.mit.edu	37	11	119031672	119031672	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:119031672C>A	ENST00000307417.3	+	15	2161	c.1797C>A	c.(1795-1797)ttC>ttA	p.F599L	ABCG4_ENST00000449422.2_Missense_Mutation_p.F599L|ABCG4_ENST00000531739.1_Missense_Mutation_p.F599L	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	599	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGCCCGTTCCGGGAGCCAC	0.577000													26	19					1.1804e-14	1.49241e-14	1	1	0
ZNF852	285346	broad.mit.edu	37	3	44540815	44540815	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:44540815T>C	ENST00000436261.1	-	4	1614	c.1454A>G	c.(1453-1455)cAc>cGc	p.H485R				B6EU87	B6EU87_HUMAN	zinc finger protein 852	485					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						GACTCTCTGGTGCACAGTAAG	0.438000													27	23					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21986565	21986565	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:21986565G>A	ENST00000381418.4	-	2	1599	c.119C>T	c.(118-120)cCg>cTg	p.P40L	HR_ENST00000312841.8_Missense_Mutation_p.P40L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	40							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CAGGCACAGCGGCCCATGGTG	0.672000													17	50					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74274382	74274382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:74274382C>A	ENST00000295897.4	+	4	431	c.342C>A	c.(340-342)tgC>tgA	p.C114*	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Nonsense_Mutation_p.C114*|ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	114	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGGCTGACTGCTGTGCAAAAC	0.438000													8	31					1.76689e-08	2.01568e-08	1	1	0
CES1	1066	broad.mit.edu	37	16	55850844	55850844	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:55850844G>T	ENST00000422046.2	-	8	1215	c.934C>A	c.(934-936)Ccc>Acc	p.P312T	CES1_ENST00000361503.4_Missense_Mutation_p.P312T|CES1_ENST00000360526.3_Missense_Mutation_p.P313T			P23141	EST1_HUMAN	carboxylesterase 1	312					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	ACCTCTCTGGGGTCTCCCTGT	0.468000													61	118					2.81305e-35	4.19842e-35	1	1	0
SLC44A5	204962	broad.mit.edu	37	1	75707693	75707693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:75707693G>T	ENST00000370855.5	-	9	638	c.525C>A	c.(523-525)agC>agA	p.S175R	SLC44A5_ENST00000535611.1_Missense_Mutation_p.S45R|SLC44A5_ENST00000370859.3_Missense_Mutation_p.S175R	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	175						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TACAAGGTTTGCTGGGAAAAA	0.378000													14	48					4.7546e-09	5.48714e-09	1	1	0
TAS2R42	353164	broad.mit.edu	37	12	11339153	11339153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:11339153C>T	ENST00000334266.1	-	1	390	c.391G>A	c.(391-393)Gtt>Att	p.V131I		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	131					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AGAAGCATAACAATCATTCCG	0.368000													12	30					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219602784	219602784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:219602784C>T	ENST00000392102.1	+	3	725	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000442769.1_Nonsense_Mutation_p.Q129*|TTLL4_ENST00000258398.4_Nonsense_Mutation_p.Q129*	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	129					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AAAACCGTACCAGCAACTGGA	0.532000													61	45					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908119	164908119	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:164908119C>G	ENST00000475390.1	-	2	943	c.500G>C	c.(499-501)gGg>gCg	p.G167A	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G167A			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	167						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCGAAATGCCCCACTCTCAAT	0.378000										HNSCC(40;0.11)			11	44					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95899717	95899717	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:95899717C>G	ENST00000334258.5	-	15	2582	c.2568G>C	c.(2566-2568)caG>caC	p.Q856H	SYNE3_ENST00000557275.1_Missense_Mutation_p.Q851H|SYNE3_ENST00000554873.1_Missense_Mutation_p.Q613H	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CAAAGAGATGCTGACCTTCTG	0.587000													4	108					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153789912	153789912	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:153789912G>A	ENST00000368655.4	-	6	1079	c.836C>T	c.(835-837)cCg>cTg	p.P279L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	279						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGCTTAGGCGGGCCCCGCTG	0.527000													29	66					0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96054237	96054237	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:96054237G>C	ENST00000358812.4	+	5	1479	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	449	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATACAGTAAGGAAAGAGCAAC	0.353000													18	20					0	0	1	0	0
ANKRD54	129138	broad.mit.edu	37	22	38228672	38228672	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr22:38228672C>T	ENST00000215941.4	-	7	992	c.800G>A	c.(799-801)cGc>cAc	p.R267H	ANKRD54_ENST00000406423.1_Missense_Mutation_p.R147H|ANKRD54_ENST00000411961.2_Missense_Mutation_p.R251H|ANKRD54_ENST00000498417.1_5'UTR	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	267										lung(1)	1	Melanoma(58;0.045)					CATCTGCAGGCGGGTGCAGAG	0.617000													30	21					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72970465	72970465	+	Silent	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:72970465T>C	ENST00000264839.7	+	19	3111	c.3111T>C	c.(3109-3111)acT>acC	p.T1037T	RIMS1_ENST00000521978.1_Silent_p.T1037T|RIMS1_ENST00000520567.1_Silent_p.T1036T|RIMS1_ENST00000518273.1_Silent_p.T1037T|RIMS1_ENST00000517960.1_Silent_p.T1036T|RIMS1_ENST00000517827.1_Silent_p.T496T|RIMS1_ENST00000538414.1_Silent_p.T16T|RIMS1_ENST00000523963.1_Silent_p.T511T|RIMS1_ENST00000401910.3_Silent_p.T510T|RIMS1_ENST00000491071.2_Silent_p.T1037T|RIMS1_ENST00000348717.5_Silent_p.T1036T|RIMS1_ENST00000425662.2_Silent_p.T430T|RIMS1_ENST00000522291.1_Intron			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1037					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCCTACATACTACCAGGTAAA	0.433000													18	9					0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100093901	100093901	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:100093901G>T	ENST00000284320.5	-	7	1636	c.1188C>A	c.(1186-1188)atC>atA	p.I396I		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	396					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TCTGAGGATCGATGTCAGCAG	0.438000													16	107					3.41278e-10	4.06869e-10	1	1	0
TCEB3B	51224	broad.mit.edu	37	18	44559812	44559812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:44559812G>T	ENST00000332567.4	-	1	2176	c.1824C>A	c.(1822-1824)taC>taA	p.Y608*	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	608	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAAGCCGCAGGTACTGCTCCC	0.512000													22	64					1.42536e-11	1.74113e-11	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34006187	34006187	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:34006187A>T	ENST00000373381.4	-	60	9745	c.9569T>A	c.(9568-9570)cTg>cAg	p.L3190Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3166	Sushi 26.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACCGCGGGCAGGGAGAGCTG	0.582000													17	55					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320143	79320143	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:79320143C>A	ENST00000428286.1	-	8	7170	c.5970G>T	c.(5968-5970)tgG>tgT	p.W1990C	PRUNE2_ENST00000376718.3_Missense_Mutation_p.W2349C			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2349					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAAATCACCCCACGAGGCTT	0.468000													100	119					1.74666e-38	2.63659e-38	1	1	0
OR5D16	390144	broad.mit.edu	37	11	55606284	55606284	+	Silent	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:55606284C>T	ENST00000378396.1	+	1	57	c.57C>T	c.(55-57)ttC>ttT	p.F19F		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCTTGGGCTTCTCAGATTACC	0.413000													42	62					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3017843	3017843	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr20:3017843G>A	ENST00000216877.6	+	22	2615	c.2215G>A	c.(2215-2217)Gtc>Atc	p.V739I	PTPRA_ENST00000399903.2_Missense_Mutation_p.V748I|PTPRA_ENST00000356147.3_Missense_Mutation_p.V739I|PTPRA_ENST00000358719.4_Missense_Mutation_p.V604I|PTPRA_ENST00000380393.3_Missense_Mutation_p.V748I|PTPRA_ENST00000318266.5_Missense_Mutation_p.V739I|PTPRA_ENST00000425918.2_Missense_Mutation_p.V759I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	748	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTGAGCACCGTCCTGGAGCG	0.592000													15	56					0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135630910	135630910	+	Missense_Mutation	SNP	G	G	T	rs140464879	byFrequency	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:135630910G>T	ENST00000370634.3	+	3	547	c.377G>T	c.(376-378)cGg>cTg	p.R126L		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GCCTCTGTTCGGCCTGGGGAG	0.622000													94	60					8.34767e-46	1.27955e-45	1	1	0
CREB5	9586	broad.mit.edu	37	7	28547350	28547350	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:28547350A>T	ENST00000357727.2	+	4	676	c.286A>T	c.(286-288)Aag>Tag	p.K96*	CREB5_ENST00000396299.2_Nonsense_Mutation_p.K63*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.K63*|CREB5_ENST00000396300.2_Nonsense_Mutation_p.K89*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	96					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGAGAGCAGCAAGCGGGTAGG	0.562000													42	107					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937334	33937334	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:33937334C>A	ENST00000330120.3	+	1	844	c.489C>A	c.(487-489)tcC>tcA	p.S163S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	163						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGGTGACGTCCATGAACATGT	0.582000													60	42					2.5401e-28	3.69384e-28	1	1	0
SHC1	6464	broad.mit.edu	37	1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:154940985C>T	ENST00000448116.2	-	4	956	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000368445.5_Missense_Mutation_p.A246T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	246	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552000													5	414					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99802959	99802959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:99802959G>A	ENST00000426455.1	+	29	3597	c.3190G>A	c.(3190-3192)Gag>Aag	p.E1064K	STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.E1006K|GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.E1064K			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1064					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAACACAGCAGAGACCAGCCC	0.632000													31	26					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21477072	21477072	+	Silent	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:21477072A>G	ENST00000356929.3	-	4	893	c.696T>C	c.(694-696)gcT>gcC	p.A232A		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ACTGGTTAAAAGCTTTTCCAC	0.358000													25	29					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792215	143792215	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:143792215G>C	ENST00000408949.2	+	1	75	c.15G>C	c.(13-15)caG>caC	p.Q5H		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAAGCAATCAGACCTGGATCA	0.398000													17	18					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026873	37026873	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:37026873C>A	ENST00000358047.3	+	1	442	c.390C>A	c.(388-390)ccC>ccA	p.P130P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	130										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGCATCCCTTGGCCATGT	0.567000													16	17					8.00594e-06	8.80432e-06	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1268755	1268755	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:1268755C>A	ENST00000447027.1	+	31	10712	c.10654C>A	c.(10654-10656)Cgc>Agc	p.R3552S	MUC5B_ENST00000529681.1_Missense_Mutation_p.R3549S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3549	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCAAGACCCGCACCTCGAC	0.687000													68	118					1.76847e-28	2.58119e-28	1	1	0
ZBTB16	7704	broad.mit.edu	37	11	113934426	113934426	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:113934426C>A	ENST00000335953.4	+	2	784	c.404C>A	c.(403-405)gCc>gAc	p.A135D	ZBTB16_ENST00000392996.2_Missense_Mutation_p.A135D	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	135					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GACACGGAGGCCACCATGGCC	0.582000													8	17					0.000274275	0.000292708	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18250514	18250514	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:18250514T>A	ENST00000377369.2	+	3	539	c.266T>A	c.(265-267)tTt>tAt	p.F89Y	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.F89Y|SLC39A12_ENST00000377374.4_Missense_Mutation_p.F89Y	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	89					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCACAGTGCTTTGAACCAGAT	0.368000													8	41					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152500369	152500369	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:152500369A>T	ENST00000427231.2	-	57	8121	c.7919T>A	c.(7918-7920)gTc>gAc	p.V2640D	NEB_ENST00000409198.1_Missense_Mutation_p.V2640D|NEB_ENST00000603639.1_Missense_Mutation_p.V2640D|NEB_ENST00000172853.10_Missense_Mutation_p.V2640D|NEB_ENST00000397345.3_Missense_Mutation_p.V2640D|NEB_ENST00000604864.1_Missense_Mutation_p.V2640D	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2640					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCATGGATGACATCGCTCTG	0.512000													37	154					0	0	1	0	0
RBM24	221662	broad.mit.edu	37	6	17292216	17292216	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:17292216T>C	ENST00000379052.5	+	4	813	c.577T>C	c.(577-579)Tat>Cat	p.Y193H	RBM24_ENST00000425446.2_Missense_Mutation_p.Y135H|RBM24_ENST00000318204.5_Missense_Mutation_p.Y148H|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	193	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			TGCTGGGGGCTATGGCTACGC	0.642000													3	29					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65447147	65447147	+	Silent	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:65447147C>T	ENST00000300107.3	-	11	1772	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	528					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						AGGCCTGGTACTGAGGAATAA	0.343000													12	23					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3087636	3087636	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:3087636T>A	ENST00000602557.1	-	28	4829	c.4274A>T	c.(4273-4275)cAa>cTa	p.Q1425L	CSMD1_ENST00000602723.1_Missense_Mutation_p.Q1425L|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q1424L|CSMD1_ENST00000520002.1_Missense_Mutation_p.Q1425L|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q1424L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q1425L|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q1424L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1425	Sushi 8.					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)		GGCTTGTCCTTGGAGCTGATA	0.498000													13	31					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27222222	27222222	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:27222222C>A	ENST00000333743.6	+	2	381	c.127C>A	c.(127-129)Caa>Aaa	p.Q43K	GABRG3_ENST00000555083.1_Missense_Mutation_p.Q43K	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	43					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TCCAAAATCCCAAGACACCGA	0.398000													16	48					1.02788e-11	1.25947e-11	1	1	0
KBTBD8	84541	broad.mit.edu	37	3	67058734	67058734	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:67058734G>T	ENST00000295568.4	+	4	1784	c.1653G>T	c.(1651-1653)cgG>cgT	p.R551R	KBTBD8_ENST00000417314.2_Silent_p.R577R|KBTBD8_ENST00000460576.1_Silent_p.R135R	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	577										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CCCCAGATCGGCTCTGGGACC	0.448000													27	21					2.79863e-10	3.34656e-10	1	1	0
ZKSCAN8	7745	broad.mit.edu	37	6	28121695	28121695	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr6:28121695A>G	ENST00000330236.6	+	6	1821	c.1637A>G	c.(1636-1638)tAc>tGc	p.Y546C	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.Y546C	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		GAGAAGCCCTACCAATGTAAT	0.423000													59	30					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31658535	31658535	+	Missense_Mutation	SNP	T	T	A	rs35863057		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:31658535T>A	ENST00000295770.2	+	7	1300	c.1091T>A	c.(1090-1092)gTg>gAg	p.V364E	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	364					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						GCAGGTGCTGTGTTCCTTAGT	0.383000													69	47					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511121	56511121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:56511121C>T	ENST00000302957.3	-	1	166	c.167G>A	c.(166-168)gGa>gAa	p.G56E		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTCATGTTTCCTGACAAGGT	0.403000													34	41					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28101547	28101547	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:28101547A>T	ENST00000305242.5	-	20	3121	c.3029T>A	c.(3028-3030)cTg>cAg	p.L1010Q	ARMC4_ENST00000537576.1_Intron|ARMC4_ENST00000545014.1_Missense_Mutation_p.W576R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	1010							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AACCATATCCAGTAGAAGCTG	0.423000													14	27					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30976967	30976967	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:30976967G>C	ENST00000262519.8	+	8	2451	c.1765G>C	c.(1765-1767)Gac>Cac	p.D589H		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	589	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTCCGACGACGACCGGGGTGG	0.682000													16	37					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	800406	800406	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:800406G>A	ENST00000347755.5	-	13	2228	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	PIDD_ENST00000411829.2_Missense_Mutation_p.S696L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	696					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CTTCAGGTGCGAGTAGAAGAC	0.637000													17	57					0	0	1	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22314989	22314989	+	RNA	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:22314989G>T	ENST00000390434.3	+	0	271																											TTTTACTCTGGGTGAGTAACA	0.502000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	28					1.80694e-10	2.16724e-10	1	1	0
WDR1	9948	broad.mit.edu	37	4	10100635	10100635	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:10100635C>A	ENST00000382452.2	-	4	640	c.358G>T	c.(358-360)Gtc>Ttc	p.V120F	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Missense_Mutation_p.V120F	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	120					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCTTCCCCGACCACGGCGATC	0.562000													16	85					5.01169e-05	5.43618e-05	1	1	0
TSKS	60385	broad.mit.edu	37	19	50243139	50243139	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:50243139T>C	ENST00000246801.3	-	11	1755	c.1673A>G	c.(1672-1674)cAc>cGc	p.H558R	TSKS_ENST00000358830.3_Missense_Mutation_p.H358R	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	558							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GAGATGATCGTGGAGGGAGCA	0.607000													26	121					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207782	58207782	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr13:58207782G>A	ENST00000377918.3	+	1	1128	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	368	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCCCCTCCCGGCACCGTCAT	0.692000													49	25					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004119	102004119	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:102004119G>A	ENST00000372735.1	+	4	781	c.196G>A	c.(196-198)Gtt>Att	p.V66I	BHLHB9_ENST00000448867.1_Missense_Mutation_p.V66I|BHLHB9_ENST00000361229.4_Missense_Mutation_p.V66I|BHLHB9_ENST00000447531.1_Missense_Mutation_p.V66I|BHLHB9_ENST00000457056.1_Missense_Mutation_p.V66I			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	66						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TAAGAACAAGGTTGTTGCTGA	0.517000													43	8					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120906324	120906324	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:120906324A>G	ENST00000310396.5	+	19	2821	c.2354A>G	c.(2353-2355)tAt>tGt	p.Y785C		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ATCATGTACTATCTTATTGAA	0.363000													24	110					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367223	107367223	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:107367223C>A	ENST00000542196.1	-	1	728	c.686G>T	c.(685-687)aGc>aTc	p.S229I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CTCGGAAGAGCTAATTTTGAA	0.418000													85	189					1.88935e-48	2.90726e-48	1	1	0
NLRP14	338323	broad.mit.edu	37	11	7064949	7064949	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:7064949G>T	ENST00000299481.4	+	4	2038	c.1692G>T	c.(1690-1692)atG>atT	p.M564I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	564					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTCAGTGTATGGAAGTATTAG	0.368000													32	49					2.2171e-23	3.11021e-23	1	1	0
ZNF136	7695	broad.mit.edu	37	19	12296670	12296670	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:12296670A>T	ENST00000343979.4	+	2	214	c.74A>T	c.(73-75)cAg>cTg	p.Q25L	ZNF136_ENST00000398616.2_Intron	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	25	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GATCCTTCCCAGAAGAATCTC	0.448000													30	47					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121008261	121008261	+	Silent	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:121008261C>T	ENST00000392793.1	+	11	3344	c.3073C>T	c.(3073-3075)Cta>Tta	p.L1025L	TECTA_ENST00000264037.2_Silent_p.L1025L			O75443	TECTA_HUMAN	tectorin alpha	1025	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGCTATGCTCTACTGGGCAG	0.577000													31	40					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141310459	141310459	+	Splice_Site	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:141310459C>G	ENST00000325617.5	-	15	2193		c.e15-1		CLGN_ENST00000537281.1_Splice_Site|CLGN_ENST00000414773.1_Splice_Site	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin						protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTTCTTTCATCTAGAAAAAAT	0.299000													20	40					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134217282	134217282	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:134217282G>T	ENST00000535456.2	+	5	701	c.513G>T	c.(511-513)gtG>gtT	p.V171V	GLB1L2_ENST00000339772.7_Silent_p.V171V|GLB1L2_ENST00000389881.3_Silent_p.V171V|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	171					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCGAAGCAGTGGACCTTTATT	0.512000													106	174					9.53166e-59	1.49568e-58	1	1	0
PRSS1	5644	broad.mit.edu	37	7	142459789	142459789	+	Missense_Mutation	SNP	G	G	T	rs111033565		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:142459789G>T	ENST00000486171.1	+	4	424	c.407G>T	c.(406-408)cGc>cTc	p.R136L	PRSS1_ENST00000311737.7_Missense_Mutation_p.R122L			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	122	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATCAACGCCCGCGTGTCCACC	0.577000													37	90					1.04352e-10	1.2592e-10	1	1	0
MTA1	9112	broad.mit.edu	37	14	105929539	105929539	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:105929539A>G	ENST00000331320.7	+	11	1175	c.961A>G	c.(961-963)Acc>Gcc	p.T321A	MTA1_ENST00000406191.1_Missense_Mutation_p.T321A|MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000405646.1_Missense_Mutation_p.T304A	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	321	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GAAGTCGCTGACCAGCATCAT	0.657000													40	259					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124481559	124481559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:124481559G>A	ENST00000284288.2	+	1	174	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	36					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.R36Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCCCTGGACCGGATAGTCAAG	0.597000													19	26					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141669598	141669598	+	Silent	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:141669598T>C	ENST00000522684.1	-	32	3355	c.3126A>G	c.(3124-3126)agA>agG	p.R1042R	PTK2_ENST00000535192.1_Silent_p.R996R|PTK2_ENST00000517712.1_Silent_p.R105R|PTK2_ENST00000521059.1_Silent_p.R1042R|PTK2_ENST00000519419.1_Silent_p.R1086R|PTK2_ENST00000517887.1_Silent_p.R1086R|PTK2_ENST00000519465.1_Silent_p.R670R|PTK2_ENST00000395218.2_Silent_p.R1055R|PTK2_ENST00000430260.2_Silent_p.R352R|PTK2_ENST00000340930.3_Silent_p.R1055R|PTK2_ENST00000538769.1_Silent_p.R710R	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	1042	Interaction with RGNEF (By similarity).|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GCATTTTCAGTCTTGCTTGGT	0.517000													4	46					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185101	56185101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:56185101G>A	ENST00000312253.1	-	1	607	c.608C>T	c.(607-609)gCt>gTt	p.A203V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATCAAAGCCAGCAAAGGCAAA	0.438000													11	48					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44686242	44686242	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr20:44686242T>A	ENST00000454036.1	+	26	3494	c.3418T>A	c.(3418-3420)Tga>Aga	p.*1140R	SLC12A5_ENST00000243964.3_Nonstop_Mutation_p.*1117R	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	0					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCTACTCCTGAGAACCAGG	0.701000													109	66					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125281896	125281896	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:125281896T>A	ENST00000431078.1	+	9	1705	c.1341T>A	c.(1339-1341)gaT>gaA	p.D447E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	447	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTTGAATGATGGCCTGTGGC	0.557000													29	31					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41388039	41388039	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:41388039T>A	ENST00000301146.4	-	1	618	c.77A>T	c.(76-78)cAg>cTg	p.Q26L	CYP2A7_ENST00000291764.3_Missense_Mutation_p.Q26L|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	26						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCTCTTCCTCTGCTGCCAGAC	0.572000													33	25					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29115301	29115301	+	RNA	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:29115301T>A	ENST00000564580.1	+	0	1360				CTB-134H23.3_ENST00000562618.1_RNA																							CACTTCTTGGTTTTGGGTAAT	0.393000													4	21					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746577	77746577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:77746577G>A	ENST00000409088.3	-	3	832	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F	LRRTM4_ENST00000409282.1_Missense_Mutation_p.L141F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.L140F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.L140F|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L141F	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	140						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTGTAGGAGAGGTCCAGATTG	0.393000													20	29					0	0	1	0	0
NAGA	4668	broad.mit.edu	37	22	42461771	42461771	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr22:42461771C>A	ENST00000396398.3	-	6	1262	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	NAGA_ENST00000403363.1_Missense_Mutation_p.G244C|NAGA_ENST00000402937.1_Missense_Mutation_p.G244C	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	244					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGCCCAGGGCCGGCCACTGGC	0.602000													10	16					0.000442599	0.000469818	1	1	0
GLB1	2720	broad.mit.edu	37	3	33099621	33099621	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:33099621C>A	ENST00000307363.5	-	6	837	c.693G>T	c.(691-693)ggG>ggT	p.G231G	GLB1_ENST00000445488.2_Silent_p.G279G|GLB1_ENST00000399402.3_Silent_p.G201G|GLB1_ENST00000307377.8_Intron	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	231					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	p.A232fs*27(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CCTGCAGGGCCCCACATTTCA	0.488000													11	11					1.08611e-07	1.22845e-07	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78710973	78710973	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:78710973G>T	ENST00000545128.1	+	8	1600	c.1062G>T	c.(1060-1062)acG>acT	p.T354T	PCSK5_ENST00000376752.4_Silent_p.T354T|PCSK5_ENST00000376767.3_Silent_p.T354T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	354	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTTCATCCACGCTGGCCACAA	0.478000													55	38					4.17328e-34	6.20522e-34	1	1	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	71					0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52817498	52817498	+	Silent	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:52817498G>A	ENST00000595962.1	+	3	231	c.165G>A	c.(163-165)gtG>gtA	p.V55V	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000334564.7_Silent_p.V55V|ZNF480_ENST00000490272.1_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACAAGGATGTGATGTTGGAGA	0.512000													43	195					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17736528	17736528	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:17736528G>A	ENST00000375436.4	-	12	1593	c.1406C>T	c.(1405-1407)cCc>cTc	p.P469L	RCC2_ENST00000375433.3_Missense_Mutation_p.P469L	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	469					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GGAAGACTTGGGCTTGTGGTC	0.572000													15	36					0	0	1	0	0
PLS3	5358	broad.mit.edu	37	X	114856588	114856588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:114856588A>G	ENST00000420625.2	+	3	238	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	PLS3_ENST00000539310.1_5'UTR|PLS3_ENST00000537301.1_Missense_Mutation_p.Y13C|PLS3_ENST00000355899.3_Missense_Mutation_p.Y35C|PLS3_ENST00000289290.3_5'UTR	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	35	EF-hand 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ATTTGTGACTATGAACTTCAT	0.353000													23	29					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52504899	52504899	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:52504899C>G	ENST00000345716.4	+	4	519	c.385C>G	c.(385-387)Ctg>Gtg	p.L129V	NISCH_ENST00000420808.2_Missense_Mutation_p.L129V|NISCH_ENST00000488380.1_Missense_Mutation_p.L129V|NISCH_ENST00000479054.1_Missense_Mutation_p.L129V	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	129	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CACCGCGGCACTGGCTGAAGA	0.507000													66	53					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17275397	17275397	+	Silent	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:17275397C>T	ENST00000375541.5	+	19	2881	c.2812C>T	c.(2812-2814)Ctg>Ttg	p.L938L	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	938					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGGCCCTGCTGCTGGCCAA	0.677000													7	83					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458723	179458723	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:179458723C>A	ENST00000589042.1	-	297	58621	c.58397G>T	c.(58396-58398)gGc>gTc	p.G19466V	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10401V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G10526V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16898V|TTN_ENST00000342175.6_Missense_Mutation_p.G10593V|TTN_ENST00000591111.1_Missense_Mutation_p.G17825V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17825	Fibronectin type-III 41.						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)			TTTCCTAGAGCCTGTACTGTT	0.383000													28	110					2.68265e-12	3.30749e-12	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55142479	55142479	+	Silent	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:55142479C>T	ENST00000427581.2	+	1	396	c.63C>T	c.(61-63)caC>caT	p.H21H	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000324602.7_5'UTR|LILRB1_ENST00000434867.2_5'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396331.1_5'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000396332.4_5'UTR|LILRB1_ENST00000396327.3_5'UTR			Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	0					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGCCAGCACCGAGGGCTCA	0.582000										HNSCC(37;0.09)			36	53					0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59420459	59420459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:59420459C>T	ENST00000300146.9	-	10	1238	c.1154G>A	c.(1153-1155)aGa>aAa	p.R385K		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	385	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GTGACTTCCTCTATCTCCCGC	0.433000													27	109					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196750877	196750877	+	Silent	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:196750877G>A	ENST00000312428.6	-	34	5626	c.5526C>T	c.(5524-5526)taC>taT	p.Y1842Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1842					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						CAAGCAAAGAGTAAGTTTCTC	0.383000													8	91					0	0	1	0	0
ZNRF1	84937	broad.mit.edu	37	16	75033821	75033821	+	Silent	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:75033821G>A	ENST00000335325.4	+	1	894	c.252G>A	c.(250-252)agG>agA	p.R84R	ZNRF1_ENST00000566250.1_Silent_p.R84R|ZNRF1_ENST00000320619.6_Silent_p.R84R|ZNRF1_ENST00000567962.1_Silent_p.R84R	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	84						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						ACTCCGAGAGGGCGCCCGGCG	0.706000													4	6					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11304442	11304442	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:11304442C>A	ENST00000432929.2	-	4	674	c.314G>T	c.(313-315)cGt>cTt	p.R105L	KANK2_ENST00000589359.1_Missense_Mutation_p.R105L|KANK2_ENST00000355150.5_Missense_Mutation_p.R105L|KANK2_ENST00000586659.1_Missense_Mutation_p.R105L|KANK2_ENST00000589894.1_Missense_Mutation_p.R105L	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	105								p.R105H(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTAGAAGCCACGGCCGCAGTA	0.667000													23	107					8.24728e-16	1.0596e-15	1	1	0
ATP11A	23250	broad.mit.edu	37	13	113474237	113474237	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr13:113474237A>T	ENST00000487903.1	+	8	786	c.698A>T	c.(697-699)tAc>tTc	p.Y233F	ATP11A_ENST00000375630.2_Missense_Mutation_p.Y233F|ATP11A_ENST00000375645.3_Missense_Mutation_p.Y233F|ATP11A_ENST00000283558.8_Missense_Mutation_p.Y233F			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	233					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCAACGTTTACAGTGACCTG	0.617000													25	11					0	0	1	0	0
IGLV3-22	28795	broad.mit.edu	37	22	23047023	23047023	+	RNA	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr22:23047023T>A	ENST00000390307.2	+	0	125																											TGTTGCCTCCTATGAGCTGAC	0.542000													23	35					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995795	144995795	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:144995795C>A	ENST00000322810.4	-	32	8774	c.8605G>T	c.(8605-8607)Gcg>Tcg	p.A2869S	PLEC_ENST00000354958.2_Missense_Mutation_p.A2710S|PLEC_ENST00000356346.3_Missense_Mutation_p.A2718S|PLEC_ENST00000436759.2_Missense_Mutation_p.A2759S|PLEC_ENST00000357649.2_Missense_Mutation_p.A2736S|PLEC_ENST00000345136.3_Missense_Mutation_p.A2732S|PLEC_ENST00000398774.2_Missense_Mutation_p.A2700S|PLEC_ENST00000527096.1_Missense_Mutation_p.A2755S|PLEC_ENST00000354589.3_Missense_Mutation_p.A2732S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2869	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCGCCTGCGCCTCCAGCAGG	0.672000													50	74					5.73435e-26	8.21854e-26	1	1	0
ATP13A4	84239	broad.mit.edu	37	3	193183873	193183873	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:193183873G>C	ENST00000342695.4	-	11	1535	c.1213C>G	c.(1213-1215)Ctt>Gtt	p.L405V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.L405V|ATP13A4_ENST00000295548.3_Missense_Mutation_p.L405V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	405					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTTCCTACAAGGCACAGGAGG	0.453000													100	245					0	0	1	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99213336	99213336	+	Silent	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:99213336T>C	ENST00000393760.1	+	7	955	c.606T>C	c.(604-606)tcT>tcC	p.S202S	ZDHHC16_ENST00000370842.2_Silent_p.S202S|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000370854.3_Silent_p.S202S|ZDHHC16_ENST00000352634.4_Silent_p.S202S|ZDHHC16_ENST00000345745.5_Silent_p.S137S|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000353979.3_Intron	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	202					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		ACTTCTTCTCTTTCTGCTTTT	0.468000													91	83					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228996727	228996727	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:228996727C>A	ENST00000392056.3	-	2	153	c.107G>T	c.(106-108)gGc>gTc	p.G36V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G36V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	36						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)		GTTCCCCGGGCCGCTTCCTGA	0.463000													23	18					1.66031e-10	1.9974e-10	1	1	0
CPXM2	119587	broad.mit.edu	37	10	125539756	125539756	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:125539756T>C	ENST00000241305.3	-	7	1059	c.905A>G	c.(904-906)tAt>tGt	p.Y302C	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	302					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCGGCGGTGATAATAATTATT	0.453000													49	50					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18151089	18151089	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:18151089C>A	ENST00000327031.4	-	20	2594	c.2369G>T	c.(2368-2370)cGc>cTc	p.R790L	FLII_ENST00000379450.4_Missense_Mutation_p.R704L|FLII_ENST00000579294.1_Missense_Mutation_p.R779L|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.R735L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	790	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CGGGGACTTGCGGCCGAGCCA	0.672000													31	14					3.80469e-20	5.15517e-20	1	1	0
TTN	7273	broad.mit.edu	37	2	179635148	179635148	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:179635148G>T	ENST00000589042.1	-	35	8595	c.8371C>A	c.(8371-8373)Cac>Aac	p.H2791N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H2745N|TTN_ENST00000359218.5_Missense_Mutation_p.H2745N|TTN_ENST00000342992.6_Missense_Mutation_p.H2791N|TTN_ENST00000342175.6_Missense_Mutation_p.H2745N|TTN_ENST00000591111.1_Missense_Mutation_p.H2791N|TTN_ENST00000360870.5_Missense_Mutation_p.H2791N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2529							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)			CTCTCCACGTGCAGTCTGGCA	0.433000													15	49					3.27435e-08	3.72469e-08	1	1	0
VN1R4	317703	broad.mit.edu	37	19	53770125	53770125	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:53770125A>G	ENST00000311170.4	-	1	847	c.794T>C	c.(793-795)tTa>tCa	p.L265S		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	265					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GTTCACCAGTAAACTATTGGG	0.453000										HNSCC(26;0.072)			3	52					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105361114	105361114	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:105361114G>C	ENST00000453495.1	+	19	4820	c.4592G>C	c.(4591-4593)aGc>aCc	p.S1531T	CEP170B_ENST00000556508.1_Missense_Mutation_p.S1460T|CEP170B_ENST00000418279.1_Missense_Mutation_p.S1425T|CEP170B_ENST00000414716.3_Missense_Mutation_p.S1495T					centrosomal protein 170B																		AGCTTGGCCAGCTCTGCACAG	0.682000													14	62					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232941067	232941067	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:232941067G>A	ENST00000418460.1	+	1	425	c.298G>A	c.(298-300)Gct>Act	p.A100T		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		CCCGAGACCCGCTGGAGCGCT	0.562000													32	53					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192073	125192073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:125192073C>T	ENST00000431078.1	+	5	906	c.542C>T	c.(541-543)gCt>gTt	p.A181V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	181	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCAGATGTTGCTGACTTTGAT	0.418000													15	69					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407018	38407018	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:38407018C>A	ENST00000322350.5	+	8	1263	c.917C>A	c.(916-918)tCt>tAt	p.S306Y	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.S306Y|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S72Y	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	306						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AAGACCATTTCTAGGCTCATC	0.483000													23	93					9.86323e-18	1.29659e-17	1	1	0
KCND2	3751	broad.mit.edu	37	7	119915462	119915462	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:119915462G>A	ENST00000331113.4	+	1	1741	c.776G>A	c.(775-777)cGt>cAt	p.R259H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	259					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CGTTTTGTGCGTAGTGTCATG	0.532000													14	40					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005351	1005351	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:1005351C>A	ENST00000234389.3	+	3	1870	c.1851C>A	c.(1849-1851)tcC>tcA	p.S617S		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	617					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TCTCCTACTCCTCAGCCCTCA	0.657000													56	69					5.82218e-30	8.59258e-30	1	1	0
ADAM29	11086	broad.mit.edu	37	4	175896994	175896994	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:175896994G>T	ENST00000359240.3	+	5	988	c.318G>T	c.(316-318)gtG>gtT	p.V106V	ADAM29_ENST00000445694.1_Silent_p.V106V|ADAM29_ENST00000404450.4_Silent_p.V106V|ADAM29_ENST00000514159.1_Silent_p.V106V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	106					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATGGTTATGTGGAAGGGGACC	0.453000													27	39					2.44723e-14	3.08429e-14	1	1	0
ANGPT1	284	broad.mit.edu	37	8	108334194	108334194	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:108334194G>T	ENST00000520734.1	-	3	423	c.138C>A	c.(136-138)gtC>gtA	p.V46V	ANGPT1_ENST00000520052.1_Silent_p.V46V|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	246					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GCTTCTGAAGGACACTGTTGT	0.428000													80	47					2.35497e-27	3.39972e-27	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55682057	55682057	+	Splice_Site	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:55682057A>T	ENST00000344514.1	-	1	1	c.0_splice	c.e1-1	p.M1_splice		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTCCCAGTCCATTCTTCCTTG	0.343000													17	15					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9580305	9580305	+	Splice_Site	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:9580305C>T	ENST00000301480.4	-	8	743		c.e8+1			NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560						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						CAAACACTCACCTTGGAGAAC	0.458000													8	32					0	0	1	0	0
CGB2	114336	broad.mit.edu	37	19	49536447	49536447	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:49536447G>T	ENST00000359342.6	+	3	579	c.461G>T	c.(460-462)gGg>gTg	p.G154V	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2			chorionic gonadotropin, beta polypeptide 2											large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CGACTCCCGGGGCCCTCAGAC	0.632000													36	119					6.08268e-21	8.26995e-21	1	1	0
OCA2	4948	broad.mit.edu	37	15	28235776	28235776	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr15:28235776C>A	ENST00000354638.3	-	10	1217	c.1062G>T	c.(1060-1062)ctG>ctT	p.L354L	OCA2_ENST00000382996.2_Silent_p.L354L|OCA2_ENST00000353809.5_Intron	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	354					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCATGGCCGCCAGAGTTCTGT	0.557000									Oculocutaneous Albinism				56	96					8.44121e-28	1.22305e-27	1	1	0
SSTR4	6754	broad.mit.edu	37	20	23017157	23017157	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr20:23017157A>C	ENST00000255008.3	+	1	1101	c.1037A>C	c.(1036-1038)tAc>tCc	p.Y346S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	346					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCCCTGGACTACTATGCCACT	0.642000													47	66					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67231740	67231740	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:67231740G>T	ENST00000382713.5	+	2	274	c.84G>T	c.(82-84)tgG>tgT	p.W28C	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	28	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GACGATGCTGGTTGGTTTTCA	0.338000													8	30					0.00621372	0.00630907	1	1	0
SCNN1B	6338	broad.mit.edu	37	16	23364139	23364139	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:23364139A>G	ENST00000343070.2	+	3	505	c.329A>G	c.(328-330)cAt>cGt	p.H110R	SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568923.1_Missense_Mutation_p.H110R|SCNN1B_ENST00000307331.5_Missense_Mutation_p.H155R|SCNN1B_ENST00000568085.1_Missense_Mutation_p.H110R	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	110					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.H110R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AAAATCAAGCATTTGCTGAAG	0.507000													38	68					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124743986	124743986	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:124743986G>T	ENST00000397801.1	+	12	1997	c.1805G>T	c.(1804-1806)tGg>tTg	p.W602L	ROBO3_ENST00000538940.1_Missense_Mutation_p.W580L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	602	Fibronectin type-III 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGCAACACATGGCGTACTGTG	0.552000													58	126					3.77215e-22	5.19981e-22	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137050	40137050	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:40137050T>G	ENST00000278198.2	-	2	2756	c.793A>C	c.(793-795)Aac>Cac	p.N265H	LRRC4C_ENST00000530763.1_Missense_Mutation_p.N265H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N265H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N265H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	265					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GACTGAAGGTTGTCAAAGGCA	0.453000													58	117					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798050	55798050	+	Silent	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:55798050T>C	ENST00000313555.1	+	1	156	c.156T>C	c.(154-156)aaT>aaC	p.N52N		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTAATATTAATTCAAGCCTTC	0.328000													19	21					0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11119845	11119845	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:11119845G>T	ENST00000376957.2	-	1	236	c.156C>A	c.(154-156)ctC>ctA	p.L52L		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	52					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	TGCGGAAGACGAGGATGTCCT	0.741000													4	19					0.00024832	0.000265722	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91630492	91630492	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:91630492C>A	ENST00000359028.2	+	9	1522	c.1297C>A	c.(1297-1299)Cga>Aga	p.R433R	AKAP9_ENST00000356239.3_Silent_p.R421R|AKAP9_ENST00000358100.2_Silent_p.R433R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	433	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATAGTACAACGAATGGAACA	0.383000			T	BRAF	papillary thyroid								47	106					3.76525e-18	4.96612e-18	1	1	0
OR13C3	138803	broad.mit.edu	37	9	107298663	107298663	+	Silent	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:107298663A>G	ENST00000374781.2	-	1	474	c.432T>C	c.(430-432)ctT>ctC	p.L144L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCATGCCAAGAAGCAGACATT	0.453000													14	335					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771793	99771793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:99771793G>A	ENST00000370185.3	+	7	2016	c.1519G>A	c.(1519-1521)Ggc>Agc	p.G507S	LPPR4_ENST00000370184.1_Missense_Mutation_p.G349S|LPPR4_ENST00000457765.1_Missense_Mutation_p.G449S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		507							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATCCAGCCTGGCGCTGTCCC	0.562000													91	116					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11098693	11098693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:11098693G>T	ENST00000304623.8	-	15	2820	c.2631C>A	c.(2629-2631)agC>agA	p.S877R	CTNND2_ENST00000458100.2_Missense_Mutation_p.S444R|CTNND2_ENST00000511377.1_Missense_Mutation_p.S786R|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.S540R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	877					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATACCTTCCAGCTCCCTGCAG	0.468000													21	37					1.64113e-05	1.79981e-05	1	1	0
DPPA4	55211	broad.mit.edu	37	3	109052773	109052773	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:109052773A>C	ENST00000335658.6	-	2	176	c.122T>G	c.(121-123)tTg>tGg	p.L41W	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	41						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGTTCCTGGCAAAGCAATTGA	0.453000													40	39					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967043	58967043	+	Silent	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:58967043C>T	ENST00000391696.1	+	3	1634	c.702C>T	c.(700-702)gaC>gaT	p.D234D	ZNF324B_ENST00000336614.4_Silent_p.D244D|ZNF324B_ENST00000545523.1_Silent_p.D244D			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGACCTGGGACGAGCTGGGCG	0.637000													3	31					0	0	1	0	0
CTSO	1519	broad.mit.edu	37	4	156858588	156858588	+	Silent	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:156858588T>C	ENST00000433477.3	-	5	669	c.600A>G	c.(598-600)caA>caG	p.Q200Q		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	200					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		ACAGACCATTTTGTGCTTTAA	0.299000													18	21					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36793341	36793341	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:36793341C>T	ENST00000399881.3	+	27	3390	c.3353C>T	c.(3352-3354)tCt>tTt	p.S1118F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1118						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATTATATCATCTCAGATACCT	0.378000													20	53					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89053869	89053869	+	Silent	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:89053869A>G	ENST00000286614.6	-	10	1925	c.1644T>C	c.(1642-1644)gaT>gaC	p.D548D		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	548					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CAATGTCTACATCATCTGGTG	0.453000													7	121					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114450889	114450889	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:114450889C>T	ENST00000375478.3	-	5	1244	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	NXPE4_ENST00000424261.2_Missense_Mutation_p.R71H	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		CATCCACTGGCGGATCGTGGA	0.418000													29	119					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200193507	200193507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:200193507G>A	ENST00000443023.1	-	7	2588	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	SATB2_ENST00000428695.1_Nonsense_Mutation_p.Q316*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q434*|SATB2_ENST00000417098.1_Nonsense_Mutation_p.Q434*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q434*|RP11-486F17.1_ENST00000489557.2_RNA			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	434						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCTCATCCTGGTAGATGCGA	0.557000													42	43					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682745	31682745	+	Silent	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:31682745C>A	ENST00000319386.3	+	11	2310	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G	CCDC129_ENST00000451887.2_Silent_p.G613G|CCDC129_ENST00000407970.3_Silent_p.G587G|CCDC129_ENST00000409210.1_Silent_p.G495G			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	587										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGGGAGCTGGCAAAGTGCAAA	0.498000													88	166					3.99893e-49	6.17733e-49	1	1	0
ANK2	287	broad.mit.edu	37	4	114163291	114163291	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:114163291G>T	ENST00000357077.4	+	9	870	c.817G>T	c.(817-819)Gct>Tct	p.A273S	ANK2_ENST00000394537.3_Missense_Mutation_p.A273S|ANK2_ENST00000506722.1_Missense_Mutation_p.A252S|ANK2_ENST00000264366.6_Missense_Mutation_p.A273S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	273					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTGCATGTGGCTTCCAAAAG	0.458000													8	38					3.09899e-07	3.48526e-07	1	1	0
FKBP9L	360132	broad.mit.edu	37	7	55750520	55750520	+	RNA	SNP	T	T	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:55750520T>A	ENST00000455909.1	-	0	699					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						CTCTGAGAACTGGAAAAGAAG	0.537000													22	35					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50432616	50432616	+	Silent	SNP	G	G	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:50432616G>T	ENST00000442544.2	+	3	1231	c.615G>T	c.(613-615)ggG>ggT	p.G205G	DCC_ENST00000412726.1_Silent_p.G53G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	205	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCAACCGGGGGACATTGGAA	0.502000													15	38					1.05317e-09	1.23701e-09	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37026872	37026872	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:37026872C>G	ENST00000358047.3	+	1	441	c.389C>G	c.(388-390)cCc>cGc	p.P130R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	130										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACCAAGCATCCCTTGGCCATG	0.572000													17	16					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100491235	100491235	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:100491235C>T	ENST00000279907.7	-	6	789	c.577G>A	c.(577-579)Gat>Aat	p.D193N	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D193N	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	193										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGGGTGGCATCTGCCTCTATT	0.358000													23	17					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3146081	3146081	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr10:3146081T>C	ENST00000381075.2	+	7	765	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	PFKP_ENST00000381125.4_Missense_Mutation_p.S189P	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	189					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CGGCACGGACTCCGCCCTGCA	0.632000													11	55					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	42					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754599	76754599	+	Missense_Mutation	SNP	G	G	T	rs146129529		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:76754599G>T	ENST00000536229.3	+	1	2918	c.2209G>T	c.(2209-2211)Ggg>Tgg	p.G737W	SALL3_ENST00000537592.2_Missense_Mutation_p.G870W|SALL3_ENST00000575389.2_Missense_Mutation_p.G870W			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GAACGGGTCCGGGGAGAGTGA	0.667000													11	53					6.42651e-13	7.97289e-13	1	1	0
PER3	8863	broad.mit.edu	37	1	7887874	7887874	+	Splice_Site	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:7887874A>G	ENST00000377532.3	+	17	3109	c.2886_splice	c.e17+1	p.Y962_splice	PER3_ENST00000361923.2_Splice_Site_p.Y954_splice			P56645	PER3_HUMAN	period circadian clock 3	954	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CAAACTGAGTATGTAAGTGAT	0.443000													31	26					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49426192	49426192	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:49426192C>A	ENST00000301067.7	-	39	12295	c.12296G>T	c.(12295-12297)gGa>gTa	p.G4099V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTGCTGTTGTCCTGGAAGCCT	0.607000													5	6					0.000602214	0.000634162	1	1	0
PTPRM	5797	broad.mit.edu	37	18	7955293	7955293	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:7955293A>G	ENST00000332175.8	+	7	2050	c.1013A>G	c.(1012-1014)tAt>tGt	p.Y338C	PTPRM_ENST00000444013.1_Missense_Mutation_p.Y125C|PTPRM_ENST00000400053.4_Missense_Mutation_p.Y276C|PTPRM_ENST00000400060.4_Missense_Mutation_p.Y338C|PTPRM_ENST00000580170.1_Missense_Mutation_p.Y338C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	338	Fibronectin type-III 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCCACGAGCTATAAAATTGGA	0.572000													15	34					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	80					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860955	16860955	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:16860955A>G	ENST00000524140.2	+	6	1920	c.1502A>G	c.(1501-1503)cAg>cGg	p.Q501R	NWD1_ENST00000552788.1_Missense_Mutation_p.Q501R|NWD1_ENST00000549814.1_Missense_Mutation_p.Q501R|NWD1_ENST00000523826.1_Missense_Mutation_p.Q295R|NWD1_ENST00000339803.6_Missense_Mutation_p.Q366R|NWD1_ENST00000379808.3_Missense_Mutation_p.Q501R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	501	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AACCAAGGCCAGCAGATGATC	0.642000													28	63					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47806253	47806253	+	Splice_Site	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:47806253C>T	ENST00000591416.1	-	2	541	c.110_splice	c.e2+1	p.S37_splice	MBD1_ENST00000585595.1_Splice_Site_p.S37_splice|MBD1_ENST00000436910.1_Splice_Site_p.S37_splice|MBD1_ENST00000424334.2_Splice_Site_p.S63_splice|MBD1_ENST00000398488.1_Splice_Site_p.S37_splice|MBD1_ENST00000398493.1_Splice_Site_p.S37_splice|MBD1_ENST00000398495.2_Splice_Site_p.S37_splice|MBD1_ENST00000382948.5_Splice_Site_p.S37_splice|MBD1_ENST00000347968.3_Splice_Site_p.S37_splice|MBD1_ENST00000457839.2_Splice_Site_p.S37_splice|MBD1_ENST00000339998.6_Splice_Site_p.S37_splice|MBD1_ENST00000269471.5_Splice_Site_p.S37_splice|MBD1_ENST00000353909.3_Splice_Site_p.S37_splice|MBD1_ENST00000588937.1_Splice_Site_p.S37_splice|MBD1_ENST00000591535.1_Splice_Site_p.S37_splice|MBD1_ENST00000587605.1_Splice_Site_p.S37_splice|MBD1_ENST00000349085.2_Splice_Site_p.S37_splice|MBD1_ENST00000585672.1_Splice_Site_p.S37_splice|MBD1_ENST00000590208.1_Splice_Site_p.S37_splice|MBD1_ENST00000269468.5_Splice_Site_p.S37_splice			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	37	MBD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CACCCAGTACCTCTGGTAATA	0.542000													15	38					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													6	116					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233407649	233407649	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:233407649C>T	ENST00000389494.3	+	7	683	c.662C>T	c.(661-663)gCg>gTg	p.A221V	CHRNG_ENST00000389492.3_Missense_Mutation_p.A169V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	221					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GACCCAGCGGCGCCAGCCCAG	0.632000													11	37					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63526186	63526186	+	Silent	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:63526186C>T	ENST00000536984.2	+	9	2092	c.1398C>T	c.(1396-1398)ggC>ggT	p.G466G	CDH7_ENST00000323011.3_Silent_p.G466G|CDH7_ENST00000397968.2_Silent_p.G466G			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TAGGAAGAGGCTATGTGGCCA	0.413000													8	17					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50832003	50832003	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr18:50832003C>A	ENST00000442544.2	+	13	2583	c.1967C>A	c.(1966-1968)aCc>aAc	p.T656N	DCC_ENST00000412726.1_Missense_Mutation_p.T504N|DCC_ENST00000581580.1_Missense_Mutation_p.T311N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	656	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGATTTATTACCGGCTATAAA	0.413000													14	30					1.5842e-08	1.81771e-08	1	1	0
MTAP	4507	broad.mit.edu	37	9	21854825	21854825	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:21854825G>A	ENST00000380172.4	+	6	852	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000460874.2_Missense_Mutation_p.A233T|MTAP_ENST00000580900.1_Missense_Mutation_p.A216T	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	216					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	CGCAAGTATCGCCATGGCGAC	0.498000													20	47					0	0	1	0	0
BECN1	8678	broad.mit.edu	37	17	40967928	40967928	+	Silent	SNP	G	G	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:40967928G>A	ENST00000361523.4	-	8	960	c.828C>T	c.(826-828)atC>atT	p.I276I	BECN1_ENST00000590099.1_Silent_p.I276I|BECN1_ENST00000438274.3_Silent_p.I200I	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	276					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTCATTACCAGATGTGGAAGG	0.483000													68	48					0	0	1	0	0
SLC39A13	91252	broad.mit.edu	37	11	47431680	47431680	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:47431680C>T	ENST00000524928.1	+	1	45	c.35C>T	c.(34-36)gCg>gTg	p.A12V	SLC39A13_ENST00000354884.4_Missense_Mutation_p.A12V|SLC39A13_ENST00000362021.4_Missense_Mutation_p.A12V|SLC39A13_ENST00000533076.1_Missense_Mutation_p.A12V|SLC39A13_ENST00000531974.1_Missense_Mutation_p.A12V			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	12					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TGTGGCATGGCGGGCCCAAGG	0.642000													4	201					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190361	58190361	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:58190361C>A	ENST00000302581.2	-	1	425	c.374G>T	c.(373-375)tGc>tTc	p.C125F		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGGGGTTTGCACACTGCTGC	0.502000													14	49					0.000151284	0.000162764	1	1	0
ZNF567	163081	broad.mit.edu	37	19	37203316	37203316	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:37203316T>C	ENST00000536254.2	+	4	260	c.38T>C	c.(37-39)gTg>gCg	p.V13A	ZNF567_ENST00000360729.4_5'UTR|ZNF567_ENST00000392163.2_5'UTR|ZNF567_ENST00000585696.1_5'UTR|ZNF567_ENST00000588311.1_5'UTR			Q8N184	ZN567_HUMAN	zinc finger protein 567	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GATGTGACTGTGGACTTCACT	0.468000													5	37					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89130936	89130936	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:89130936C>A	ENST00000286614.6	-	5	1145	c.864G>T	c.(862-864)aaG>aaT	p.K288N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	288					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TACCATATATCTTCTGGATGC	0.383000													22	110					1.1804e-14	1.49241e-14	1	1	0
KCNK10	54207	broad.mit.edu	37	14	88729659	88729659	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:88729659C>G	ENST00000340700.5	-	2	725	c.274G>C	c.(274-276)Gca>Cca	p.A92P	KCNK10_ENST00000312350.5_Missense_Mutation_p.A97P|KCNK10_ENST00000319231.5_Missense_Mutation_p.A97P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	92					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGCTCCAATGCCCGGAAGACA	0.572000													9	57					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82302736	82302736	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:82302736A>T	ENST00000370728.1	+	5	712	c.67A>T	c.(67-69)Aca>Tca	p.T23S	LPHN2_ENST00000335786.5_Missense_Mutation_p.T23S|LPHN2_ENST00000394879.1_Missense_Mutation_p.T23S|LPHN2_ENST00000370717.2_Missense_Mutation_p.T23S|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370715.1_Missense_Mutation_p.T23S|LPHN2_ENST00000370730.1_Missense_Mutation_p.T23S|LPHN2_ENST00000359929.3_Missense_Mutation_p.T23S|LPHN2_ENST00000370727.1_Missense_Mutation_p.T23S|LPHN2_ENST00000319517.6_Missense_Mutation_p.T23S|LPHN2_ENST00000370713.1_Missense_Mutation_p.T23S|LPHN2_ENST00000271029.4_Missense_Mutation_p.T23S|LPHN2_ENST00000370723.1_Missense_Mutation_p.T23S|LPHN2_ENST00000370721.1_Missense_Mutation_p.T23S|LPHN2_ENST00000370725.1_Missense_Mutation_p.T23S			O95490	LPHN2_HUMAN	latrophilin 2	23					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTACCAAATACAGAAGGTAA	0.318000													12	14					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141460021	141460021	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:141460021G>C	ENST00000389484.3	-	38	7096	c.6125C>G	c.(6124-6126)cCg>cGg	p.P2042R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2042					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATGCCATTCGGCCATGCTAT	0.428000										TSP Lung(27;0.18)			13	53					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088983	86088983	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:86088983T>G	ENST00000330753.4	+	2	1892	c.1125T>G	c.(1123-1125)agT>agG	p.S375R	FLRT2_ENST00000554746.1_Missense_Mutation_p.S375R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	375					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAGCCCCAAGTACAGCTTCTC	0.557000													39	187					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638857	176638857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:176638857C>T	ENST00000439151.2	+	5	3502	c.3457C>T	c.(3457-3459)Caa>Taa	p.Q1153*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q1050*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q884*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q884*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1153					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGTGTAAATCAAGTGGTGCC	0.418000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			36	13					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187531167	187531167	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:187531167C>G	ENST00000441802.2	-	15	10065	c.9856G>C	c.(9856-9858)Gcc>Ccc	p.A3286P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3286	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATAAATACGGCCCCTGAATAG	0.413000										HNSCC(5;0.00058)			9	17					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101300161	101300161	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:101300161G>C	ENST00000519449.1	-	3	558	c.242C>G	c.(241-243)tCa>tGa	p.S81*	RNF19A_ENST00000341084.2_Nonsense_Mutation_p.S81*	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	81					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TAGCTCCCTTGATTTACGTTT	0.388000													116	64					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84649548	84649548	+	Splice_Site	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:84649548C>A	ENST00000284136.6	-	12	1547		c.e12+1		SEMA3D_ENST00000484038.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGAGTCTTACCTTGAATATC	0.413000													16	22					6.72482e-11	8.1395e-11	1	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77328833	77328833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr16:77328833C>T	ENST00000282849.5	-	19	3411	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	998	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGACCAGGGTCCAAGGCTCCA	0.537000													10	31					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148916310	148916310	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr3:148916310C>A	ENST00000264613.6	-	9	1819	c.1557G>T	c.(1555-1557)tgG>tgT	p.W519C		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	519	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TGGGGACAGTCCATTCATAGG	0.468000													14	42					0.00185496	0.00193286	1	1	0
CD40LG	959	broad.mit.edu	37	X	135741519	135741519	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:135741519C>A	ENST00000370629.2	+	5	787	c.731C>A	c.(730-732)cCa>cAa	p.P244Q	CD40LG_ENST00000370628.2_Missense_Mutation_p.P223Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	244					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	GTGACTGATCCAAGCCAAGTG	0.522000									Immune Deficiency with Hyper-IgM				86	26					4.41824e-40	6.72046e-40	1	1	0
SSH1	54434	broad.mit.edu	37	12	109186136	109186136	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:109186136G>C	ENST00000326495.5	-	14	1912	c.1819C>G	c.(1819-1821)Cag>Gag	p.Q607E	SSH1_ENST00000360239.3_Missense_Mutation_p.Q295E|SSH1_ENST00000551165.1_Missense_Mutation_p.Q607E|SSH1_ENST00000326470.5_Missense_Mutation_p.Q618E	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	607					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGATCGAGCTGGGTTGGAAGC	0.617000													17	61					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160283779	160283779	+	Splice_Site	DEL	C	C	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:160283779delC	ENST00000241704.7	-	9	1072		c.e9+1		COPA_ENST00000368069.3_Splice_Site	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha						COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACTACCTTACCGCTTAGACA	0.408													24	46	---	---	---	---					
NUF2	83540	broad.mit.edu	37	1	163306634	163306634	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:163306634delA	ENST00000271452.3	+	6	710	c.431delA	c.(430-432)cafs	p.Q144fs	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000367900.3_Frame_Shift_Del_p.Q144fs|NUF2_ENST00000524800.1_Frame_Shift_Del_p.Q144fs	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	144	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TTTCTTTGGCAATATGTAAGA	0.318													18	33	---	---	---	---					
LMOD1	25802	broad.mit.edu	37	1	201869086	201869087	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:201869086_201869087insA	ENST00000367288.4	-	2	1300_1301	c.1054_1055insT	c.(1054-1056)tgafs	p.*352fs	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	352					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGAGCCTCAGTAAACCGGACC	0.525													16	29	---	---	---	---					
INTS7	25896	broad.mit.edu	37	1	212154469	212154478	+	Frame_Shift_Del	DEL	TGACTACAAA	TGACTACAAA	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr1:212154469_212154478delTGACTACAAA	ENST00000366994.3	-	10	1291_1300	c.1187_1196delTTTGTAGTCA	c.(1186-1197)cafs	p.LCSQ396fs	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Frame_Shift_Del_p.LCSQ396fs|INTS7_ENST00000440600.2_Frame_Shift_Del_p.LCSQ347fs|INTS7_ENST00000366992.3_Frame_Shift_Del_p.LCSQ396fs	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	396					snRNA processing	integrator complex	protein binding	p.S398R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ACTATCATCTTGACTACAAAGTACCAGTAG	0.367													11	53	---	---	---	---					
POTEJ	653781	broad.mit.edu	37	2	131414358	131414358	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:131414358delC	ENST00000409602.1	+	15	2077	c.2025delC	c.(2023-2025)aafs	p.N675fs		NM_001277083.1	NP_001264012.1			POTE ankyrin domain family, member J											lung(5)	5						TCATTGACAACGGCTCTGGCA	0.527													7	28	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152427093	152427094	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr2:152427093_152427094insC	ENST00000397345.3	-	108	17237_17238	c.17035_17036insG	c.(17035-17037)tgafs	p.*5679fs	NEB_ENST00000603639.1_Frame_Shift_Ins_p.*5679fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.*3978fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.*5679fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.*3978fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.*5679fs	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5696					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTCATTTCATCCCAGCCCTCA	0.480													10	8	---	---	---	---					
ZNF876P	642280	broad.mit.edu	37	4	247254	247255	+	RNA	DEL	TA	TA	-	rs34738994		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:247254_247255delTA	ENST00000356347.3	+	0	172					NR_027481.1																						TTTGTATAAGTATATATATATT	0.287													6	0	---	---	---	---					
TLR2	7097	broad.mit.edu	37	4	154625775	154625775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr4:154625775delC	ENST00000260010.6	+	1	3124	c.1716delC	c.(1714-1716)ggfs	p.G572fs		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	572					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				ATGTGCGTGGCCAGCAGGTTC	0.552													51	118	---	---	---	---					
PRR16	51334	broad.mit.edu	37	5	120022149	120022151	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:120022149_120022151delTGA	ENST00000379551.2	+	3	948_950	c.591_593delTGA	c.(589-594)tgt>tg	p.CD197del	PRR16_ENST00000407149.2_In_Frame_Del_p.CD220del|PRR16_ENST00000505123.1_In_Frame_Del_p.CD150del|PRR16_ENST00000446965.1_In_Frame_Del_p.CD150del	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	220	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GTCCTGACTGTGATACCCGGTAT	0.498													7	51	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	124036938	124036943	+	In_Frame_Del	DEL	CTGGCA	CTGGCA	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:124036938_124036943delCTGGCA	ENST00000306315.5	-	2	1361_1366	c.926_931delTGCCAG	c.(925-933)gcg>g	p.VPA309del	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	309						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGTGGTGGCGCTGGCACTGTAAACAG	0.476													36	37	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156908860	156908860	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr5:156908860delG	ENST00000257527.4	-	22	2720	c.2642delC	c.(2641-2643)cafs	p.P881fs	ADAM19_ENST00000517905.1_Frame_Shift_Del_p.P881fs|ADAM19_ENST00000394020.1_Frame_Shift_Del_p.P883fs|ADAM19_ENST00000430702.2_Intron	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	881					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGCCGCAGTGGGGATGCACC	0.682													8	5	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757																											TCACCCCCCCCCCCGTTAAAAT	0.470													2	4	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91603084	91603085	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:91603084_91603085insA	ENST00000359028.2	+	3	369_370	c.144_145insA	c.(142-147)caaaaafs	p.QK48fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.QK36fs|AKAP9_ENST00000394564.1_Frame_Shift_Ins_p.QK36fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.QK48fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	48					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.K39fs*17(1)|p.K51fs*17(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCAAGAAGCAGAAAAAAAAGAG	0.351			T	BRAF	papillary thyroid								15	48	---	---	---	---					
OR9A1P	26495	broad.mit.edu	37	7	141587400	141587400	+	RNA	DEL	G	G	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr7:141587400delG	ENST00000482201.1	+	0	79																											CATGGGTTTTGGGGTTTCTTT	0.418													13	16	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77764404	77764405	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:77764404_77764405insT	ENST00000521891.2	+	10	5695_5696	c.5247_5248insT	c.(5245-5250)agtgggfs	p.G1750fs	ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.G1705fs|ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.G1705fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.G1724fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1705	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGGAGTTCAGCTTGGGGCCAGA	0.510										HNSCC(33;0.089)			39	40	---	---	---	---					
RIMS2	9699	broad.mit.edu	37	8	105010427	105010427	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr8:105010427delT	ENST00000507740.1	+	15	2671	c.2435delT	c.(2434-2436)cafs	p.L812fs	RIMS2_ENST00000436393.2_Frame_Shift_Del_p.L798fs|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1076	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTTCTTACTCTACCTCGCTCC	0.353										HNSCC(12;0.0054)			22	124	---	---	---	---					
PAX5	5079	broad.mit.edu	37	9	37015109	37015109	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:37015109delT	ENST00000358127.4	-	3	369	c.295delA	c.(295-297)tcfs	p.I99fs	PAX5_ENST00000414447.1_Frame_Shift_Del_p.I99fs|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000520154.1_Frame_Shift_Del_p.I99fs|PAX5_ENST00000523241.1_Frame_Shift_Del_p.I99fs|PAX5_ENST00000377852.2_Frame_Shift_Del_p.I99fs|PAX5_ENST00000377853.2_Frame_Shift_Del_p.I99fs|PAX5_ENST00000377847.2_Frame_Shift_Del_p.I99fs|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000520281.1_Frame_Shift_Del_p.I99fs	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	99	Paired.			I -> F (in Ref. 3; AAC35286).	cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TATTCAGCGATTTTTTCCACC	0.512			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								306	219	---	---	---	---					
PRUNE2	158471	broad.mit.edu	37	9	79324702	79324702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:79324702delC	ENST00000428286.1	-	8	2611	c.1411delG	c.(1411-1413)acfs	p.D471fs	PRUNE2_ENST00000376718.3_Frame_Shift_Del_p.D830fs			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	830					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCATTCGGGTCCCTAACAGAA	0.443													27	27	---	---	---	---					
TSC1	7248	broad.mit.edu	37	9	135778029	135778047	+	Frame_Shift_Del	DEL	TCATGCTGCAGCTGTCTGA	TCATGCTGCAGCTGTCTGA	-	rs118203681		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr9:135778029_135778047delTCATGCTGCAGCTGTCTGA	ENST00000298552.3	-	18	2557_2575	c.2336_2354delTCAGACAGCTGCAGCATGA	c.(2335-2355)acfs	p.IRQLQHD779fs	TSC1_ENST00000440111.2_Frame_Shift_Del_p.IRQLQHD779fs|TSC1_ENST00000545250.1_Frame_Shift_Del_p.IRQLQHD728fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	779					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTG	0.521			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	130	---	---	---	---					
OR8H2	390151	broad.mit.edu	37	11	55872764	55872765	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:55872764_55872765insT	ENST00000313503.1	+	1	246_247	c.246_247insT	c.(244-249)actagcfs	p.S83fs		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CACCTAAAACCTTAGCGAACTT	0.436										HNSCC(53;0.14)			93	305	---	---	---	---					
MS4A2	2206	broad.mit.edu	37	11	59857864	59857865	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr11:59857864_59857865insT	ENST00000278888.3	+	3	344_345	c.242_243insT	c.(241-243)tgtfs	p.C81fs		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	81					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GTTGTCTGCTCTGTACTTGATA	0.322													26	101	---	---	---	---					
NXPH4	11247	broad.mit.edu	37	12	57619187	57619188	+	In_Frame_Ins	INS	-	-	GGC			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr12:57619187_57619188insGGC	ENST00000349394.5	+	2	759_760	c.584_585insGGC	c.(583-585)agc>aGGCgc	p.195_195S>RR	NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	195	IV (linker domain).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						CCGCTGGGGATGGCAGCAGCAG	0.752													16	38	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409540	22409541	+	RNA	INS	-	-	C			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr14:22409540_22409541insC	ENST00000390441.2	+	0	102																											tctctctctctTTTTTTTTTTC	0.426													3	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:7578526delC	ENST00000420246.2	-	5	536	c.404delG	c.(403-405)tcfs	p.C135fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.C135fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C135fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C135fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCAGTTGGCAAAACATCTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	25	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808240	77808241	+	In_Frame_Ins	INS	-	-	GTG	rs3833850		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr17:77808240_77808241insGTG	ENST00000269397.4	-	5	1377_1378	c.1200_1201insCAC	c.(1198-1203)caccgt>caCACccgt	p.400_401HR>HTR		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGGCCGACGGCgtggtggtggt	0.703													6	11	---	---	---	---					
ARID3A	1820	broad.mit.edu	37	19	971949	971950	+	In_Frame_Ins	INS	-	-	GCA	rs1051505	byFrequency	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:971949_971950insGCA	ENST00000263620.3	+	9	1993_1994	c.1666_1667insGCA	c.(1666-1668)cag>GCAcag	p.555_556insA		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	555	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		cggcggcggcggcagcagcagc	0.653													21	36	---	---	---	---					
HSPBP1	23640	broad.mit.edu	37	19	55790886	55790887	+	In_Frame_Ins	INS	-	-	GCCGCCGCC	rs10701478	by1000genomes	TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chr19:55790886_55790887insGCCGCCGCC	ENST00000255631.5	-	3	400_401	c.90_91insGGCGGCGGC	c.(88-93)ggcctc>ggGGCGGCGGCcctc	p.30_31GL>GAAAL	HSPBP1_ENST00000433386.2_In_Frame_Ins_p.30_31GL>GAAAL|HSPBP1_ENST00000376343.3_In_Frame_Ins_p.30_31GL>GAAAL|HSPBP1_ENST00000587922.1_In_Frame_Ins_p.30_31GL>GAAAL	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	30	Gly-rich.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGCCGAGGAGCCGCCGCCGC	0.713													28	34	---	---	---	---					
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	37	---	---	---	---					
C1GALT1C1	29071	broad.mit.edu	37	X	119760791	119760798	+	Frame_Shift_Del	DEL	GGGTTTTA	GGGTTTTA	-	rs56255076		TCGA-CV-7409-01A-31D-2229-08	TCGA-CV-7409-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47fa56f1-0802-403a-a644-913f1a0fdeca	da9648a0-7446-4481-b8ab-ca9cc795e2dd	g.chrX:119760791_119760798delGGGTTTTA	ENST00000304661.5	-	2	462_469	c.224_231delTAAAACCC	c.(223-231)gfs	p.VKP75fs	C1GALT1C1_ENST00000371313.2_Frame_Shift_Del_p.VKP75fs	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	75						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						TCACATCTTTGGGTTTTACAAGGATAAT	0.399													33	10	---	---	---	---					
