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
PARP3	10039	broad.mit.edu	37	3	51978185	51978185	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:51978185C>A	ENST00000417220.2	+	4	752	c.264C>A	c.(262-264)ctC>ctA	p.L88L	PARP3_ENST00000431474.1_Silent_p.L88L|PARP3_ENST00000398755.3_Silent_p.L95L			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	88					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.L95L(1)		ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCCAGCTGCTCCAAGACAGCA	0.567000													66	154					2.33925e-33	4.24254e-33	0.870114	1	0
VWC2L	402117	broad.mit.edu	37	2	215301400	215301400	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:215301400C>A	ENST00000312504.5	+	3	1240	c.438C>A	c.(436-438)caC>caA	p.H146Q	VWC2L_ENST00000427124.1_Intron|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	146	VWFC 2.					extracellular region		p.H146Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						ATGAAGTTCACTGTGTTGTAG	0.453000													16	66					1.15088e-07	1.38522e-07	0.500413	1	0
MAP3K5	4217	broad.mit.edu	37	6	136913701	136913701	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:136913701C>A	ENST00000359015.4	-	22	3290	c.2930G>T	c.(2929-2931)aGc>aTc	p.S977I	MAP3K5_ENST00000355845.4_Missense_Mutation_p.S224I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	977					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.S977I(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ACTGCTGCTGCTGGTGTCCTC	0.478000													16	91					9.16793e-09	1.14134e-08	0.520397	1	0
ANK1	286	broad.mit.edu	37	8	41530361	41530361	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:41530361C>A	ENST00000396942.1	-	38	4690	c.4607G>T	c.(4606-4608)cGt>cTt	p.R1536L	ANK1_ENST00000289734.7_Missense_Mutation_p.R1536L|ANK1_ENST00000265709.8_Missense_Mutation_p.R1577L|ANK1_ENST00000347528.4_Missense_Mutation_p.R1536L|ANK1_ENST00000396945.1_Missense_Mutation_p.R1536L|ANK1_ENST00000352337.4_Missense_Mutation_p.R1536L|ANK1_ENST00000379758.2_Missense_Mutation_p.R1536L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1536	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1536L(1)|p.R1577L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGGTCTGCACGTAGCGGAGA	0.612000													44	32					5.34276e-22	8.57851e-22	0.870114	1	0
SNHG12	85028	broad.mit.edu	37	1	28906908	28906908	+	RNA	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:28906908G>A	ENST00000488745.1	-	0	1100				SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000384584.1_RNA																							TAGGAAAGCTGAGTGGCAGCT	0.458000													19	19					0	0	0.575678	0	0
NXPE3	91775	broad.mit.edu	37	3	101520220	101520220	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:101520220G>T	ENST00000422132.1	+	2	432	c.235G>T	c.(235-237)Gac>Tac	p.D79Y	NXPE3_ENST00000273347.5_Missense_Mutation_p.D79Y|NXPE3_ENST00000491511.1_Missense_Mutation_p.D79Y|NXPE3_ENST00000477909.1_Missense_Mutation_p.D79Y					neurexophilin and PC-esterase domain family, member 3									p.D79Y(1)									CATGGAGGAGGACTCCTTGCT	0.552000													65	129					4.20717e-43	8.0127e-43	0.870114	1	0
MYH7	4625	broad.mit.edu	37	14	23884924	23884924	+	Missense_Mutation	SNP	C	C	A	rs45464193		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:23884924C>A	ENST00000355349.3	-	35	5233	c.5071G>T	c.(5071-5073)Gtg>Ttg	p.V1691L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1691					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V1691L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCTCCACCACGGCACGCAAC	0.637000													12	67					4.3838e-07	5.1521e-07	0.435327	1	0
BEND2	139105	broad.mit.edu	37	X	18234842	18234842	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:18234842T>C	ENST00000380033.4	-	2	169	c.37A>G	c.(37-39)Ata>Gta	p.I13V	BEND2_ENST00000380030.3_Missense_Mutation_p.I13V	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	13								p.I13V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCGACAGTTATAATAACAAAA	0.318000													13	26					0	0	0.435327	0	0
ZNF827	152485	broad.mit.edu	37	4	146806894	146806894	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:146806894C>A	ENST00000508784.1	-	4	1910	c.1683G>T	c.(1681-1683)gcG>gcT	p.A561A	ZNF827_ENST00000513320.1_Silent_p.A211A|ZNF827_ENST00000379448.4_Silent_p.A561A			Q17R98	ZN827_HUMAN	zinc finger protein 827	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A561A(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACAATGCTGACGCACTGTTGG	0.502000													56	58					3.30226e-22	5.36701e-22	0.870114	1	0
CHAF1B	8208	broad.mit.edu	37	21	37775118	37775118	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr21:37775118C>T	ENST00000314103.4	+	8	877	c.726C>T	c.(724-726)ttC>ttT	p.F242F		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	242					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	p.F242F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GACTGAGTTTCACTCCCGACG	0.453000													145	184					0	0	0.870114	0	0
NTRK3	4916	broad.mit.edu	37	15	88576096	88576096	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:88576096G>T	ENST00000394480.1	-	14	1898	c.1577C>A	c.(1576-1578)cCg>cAg	p.P526Q	NTRK3_ENST00000360948.2_Missense_Mutation_p.P526Q|NTRK3_ENST00000542733.2_Missense_Mutation_p.P428Q|NTRK3_ENST00000357724.2_Missense_Mutation_p.P518Q|NTRK3_ENST00000557856.1_Missense_Mutation_p.P518Q|NTRK3_ENST00000540489.2_Missense_Mutation_p.P526Q|NTRK3_ENST00000317501.3_Missense_Mutation_p.P526Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.P526Q|NTRK3_ENST00000558676.1_Missense_Mutation_p.P518Q|NTRK3_ENST00000558306.1_5'UTR	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	526					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P526Q(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACACGTGTCCGGCTTGTGGCA	0.577000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			4	16					8.12818e-05	8.80094e-05	0.248553	1	0
INSL5	10022	broad.mit.edu	37	1	67263727	67263727	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:67263727C>A	ENST00000304526.2	-	2	411	c.377G>T	c.(376-378)tGt>tTt	p.C126F		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	126						extracellular region	hormone activity	p.C126F(1)		breast(2)|endometrium(1)|lung(5)	8						AGTCATGGAACAGCCATCAGT	0.428000													10	87					4.68919e-08	5.69554e-08	0.361761	1	0
EPG5	57724	broad.mit.edu	37	18	43497741	43497741	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr18:43497741G>A	ENST00000282041.5	-	17	3176	c.3142C>T	c.(3142-3144)Ctg>Ttg	p.L1048L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1048					autophagy			p.L1048L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GACTGGACCAGAATTCCCAAT	0.413000													74	79					0	0	0.870114	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141294041	141294041	+	Silent	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:141294041T>A	ENST00000389328.4	-	14	2369	c.2355A>T	c.(2353-2355)acA>acT	p.T785T	TRAPPC9_ENST00000438773.2_Silent_p.T687T|TRAPPC9_ENST00000389327.3_Silent_p.T678T	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	687					cell differentiation	endoplasmic reticulum|Golgi apparatus		p.T785T(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TGACTTCCACTGTGGAGCCAC	0.522000													87	63					0	0	0.870114	0	0
DACH2	117154	broad.mit.edu	37	X	85950086	85950086	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:85950086C>A	ENST00000373131.1	+	4	959	c.796C>A	c.(796-798)Caa>Aaa	p.Q266K	DACH2_ENST00000373125.4_Missense_Mutation_p.Q279K|DACH2_ENST00000510272.1_Missense_Mutation_p.Q60K|DACH2_ENST00000508860.1_Missense_Mutation_p.Q112K	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.Q279K(1)|p.Q266K(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ACCTGGACCCCAACATGGAAT	0.468000													17	43					1.67942e-08	2.08425e-08	0.539581	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32893977	32893977	+	RNA	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:32893977G>T	ENST00000330048.5	-	0	1280					NR_003083.2																						TCCAGGTGTGGCCACATGTGG	0.577000													36	112					4.3181e-19	6.69096e-19	0.769981	1	0
AOC4P	90586	broad.mit.edu	37	17	41019706	41019706	+	RNA	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:41019706G>C	ENST00000585538.1	+	0	545					NR_002773.1																						AGCCCAACGTGAGTGAGCTGG	0.672000													4	17					0	0	0.248553	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46952048	46952048	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:46952048G>T	ENST00000409879.2	-	3	1101	c.41C>A	c.(40-42)cCt>cAt	p.P14H	KIAA0226L_ENST00000378784.4_Missense_Mutation_p.P14H|KIAA0226L_ENST00000429979.1_5'UTR|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.P14H|KIAA0226L_ENST00000389908.3_Intron|KIAA0226L_ENST00000378797.2_5'UTR|KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000378781.3_5'UTR			Q9H714	CM018_HUMAN	KIAA0226-like	0										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TTCTCGAAGAGGCAGATTGAC	0.438000													5	11					5.9392e-07	6.94939e-07	0.217242	1	0
MXRA5	25878	broad.mit.edu	37	X	3240858	3240858	+	Silent	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:3240858T>A	ENST00000217939.6	-	5	3022	c.2868A>T	c.(2866-2868)acA>acT	p.T956T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	956						extracellular region		p.T956T(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACTCACTGGATGTGGGCTCTG	0.507000													19	51					0	0	0.729181	0	0
CHD4	1108	broad.mit.edu	37	12	6707148	6707148	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:6707148C>A	ENST00000309577.6	-	12	1967	c.1804G>T	c.(1804-1806)Gac>Tac	p.D602Y	CHD4_ENST00000357008.2_Missense_Mutation_p.D602Y|CHD4_ENST00000544040.1_Missense_Mutation_p.D595Y|CHD4_ENST00000544484.1_Missense_Mutation_p.D599Y			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	602					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.D602Y(2)		central_nervous_system(2)	2						AATTTAGGGTCCTTGTTCTTT	0.483000													172	249					9.51103e-86	1.88333e-85	0.870114	1	0
LINGO1	84894	broad.mit.edu	37	15	77907657	77907657	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:77907657G>A	ENST00000355300.6	-	2	766	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	LINGO1_ENST00000561030.1_Silent_p.L192L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	198					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		p.L192L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CATTTCTCCAGCGTCAGCTGC	0.607000													33	60					0	0	0.870114	0	0
COL27A1	85301	broad.mit.edu	37	9	117020842	117020842	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:117020842C>A	ENST00000356083.3	+	28	3554	c.3163C>A	c.(3163-3165)Cca>Aca	p.P1055T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1055	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1055T(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATCTCGAGGCCCACCAGGCAT	0.622000													13	29					1.49906e-05	1.66377e-05	0.457914	1	0
AGAP2	116986	broad.mit.edu	37	12	58126629	58126629	+	Splice_Site	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:58126629C>T	ENST00000257897.3	-	6	760	c.676_splice	c.e6+1	p.E225_splice	AGAP2_ENST00000547588.1_Splice_Site_p.E561_splice	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	561	Interactions with HOMER1 and NF2 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.E225E(1)|p.E225D(1)|p.E561D(1)|p.E561E(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TACACTCACCCTCCTGGAAGA	0.557000													67	385					0	0	0.870114	0	0
HOXB1	3211	broad.mit.edu	37	17	46608020	46608020	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:46608020C>A	ENST00000239174.6	-	1	339	c.247G>T	c.(247-249)Ggg>Tgg	p.G83W	HOXB1_ENST00000577092.1_Missense_Mutation_p.G83W	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	83						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.G83W(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGAGCATACCCCGAGGGCGCG	0.652000													14	76					7.93312e-07	9.2015e-07	0.457914	1	0
DNAH10	196385	broad.mit.edu	37	12	124293409	124293409	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:124293409T>A	ENST00000409039.3	+	18	2724	c.2699T>A	c.(2698-2700)cTg>cAg	p.L900Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	900	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L718Q(1)|p.L900Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAACCATTCTGACGGCACCT	0.458000													100	508					0	0	0.870114	0	0
ALOX12B	242	broad.mit.edu	37	17	7983194	7983194	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:7983194G>T	ENST00000319144.4	-	7	1080	c.820C>A	c.(820-822)Ccc>Acc	p.P274T	AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	274	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.P274T(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ATCAGGCCGGGGTTGACGCCG	0.652000										Multiple Myeloma(8;0.094)			5	17					5.9392e-07	6.94939e-07	0.217242	1	0
TUBB1	81027	broad.mit.edu	37	20	57599325	57599325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:57599325C>A	ENST00000217133.1	+	4	1112	c.843C>A	c.(841-843)taC>taA	p.Y281*		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	281					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	p.Y281*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GCCAGCAGTACCGAGCCCTCT	0.657000													11	22					0.00010058	0.00010861	0.411799	1	0
SHC1	6464	broad.mit.edu	37	1	154940998	154940998	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:154940998G>A	ENST00000448116.2	-	4	943	c.723C>T	c.(721-723)ctC>ctT	p.L241L	SHC1_ENST00000368453.4_Silent_p.L131L|SHC1_ENST00000368449.4_Silent_p.L12L|SHC1_ENST00000368445.5_Silent_p.L241L|SHC1_ENST00000606391.1_Silent_p.L42L|SHC1_ENST00000368450.1_Silent_p.L131L	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	241	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	p.L241L(1)|p.L131L(1)		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)			CCATGAGGTTGAGGCTGCTGG	0.557000													131	346					0	0	0.870114	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835210	27835210	+	Missense_Mutation	SNP	G	G	T	rs141517982		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:27835210G>T	ENST00000331442.3	-	1	149	c.98C>A	c.(97-99)gCt>gAt	p.A33D		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	33					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A33D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCGCTTAGCAGCGCCGGCGCC	0.617000													10	119					7.93312e-07	9.2015e-07	0.457914	1	0
FAM43A	131583	broad.mit.edu	37	3	194407680	194407680	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:194407680G>T	ENST00000329759.4	+	1	1059	c.125G>T	c.(124-126)tGc>tTc	p.C42F		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	42										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GCGCGGGCGTGCCCCGAAGGC	0.677000													5	19					3.59834e-05	3.9552e-05	0.217242	1	0
CSMD1	64478	broad.mit.edu	37	8	3216805	3216805	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:3216805C>A	ENST00000602557.1	-	22	3731	c.3176G>T	c.(3175-3177)gGt>gTt	p.G1059V	CSMD1_ENST00000602723.1_Missense_Mutation_p.G1059V|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1059V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1058V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1059V|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1058V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1058V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1059	Sushi 6.					integral to membrane		p.G787V(1)|p.G1058V(1)		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)		AAAGTGAAAACCAATTCTTCG	0.522000													12	44					0.000219431	0.000235358	0.457914	1	0
CLSTN2	64084	broad.mit.edu	37	3	140282979	140282979	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:140282979C>T	ENST00000458420.3	+	16	2849	c.2659C>T	c.(2659-2661)Ccc>Tcc	p.P887S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	887					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.P887S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACAGTCAACCCCATGGAGGT	0.592000										HNSCC(16;0.037)			27	81					0	0	0.693898	0	0
TTLL11	158135	broad.mit.edu	37	9	124751595	124751595	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:124751595T>C	ENST00000321582.5	-	4	1605	c.1418A>G	c.(1417-1419)aAg>aGg	p.K473R	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Missense_Mutation_p.K473R	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	473	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.K473R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCAGACCTTCTTGATGTCAAC	0.522000													14	70					0	0	0.539581	0	0
PLCB4	5332	broad.mit.edu	37	20	9364988	9364988	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:9364988C>T	ENST00000378501.2	+	11	1009	c.994C>T	c.(994-996)Ctc>Ttc	p.L332F	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.L332F|PLCB4_ENST00000334005.3_Missense_Mutation_p.L332F|PLCB4_ENST00000414679.2_Missense_Mutation_p.L332F|PLCB4_ENST00000278655.4_Missense_Mutation_p.L332F|PLCB4_ENST00000378493.1_Missense_Mutation_p.L332F	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	332	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.L332F(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TAACACTTATCTCACTGGCAG	0.458000													38	109					0	0	0.870114	0	0
RGS1	5996	broad.mit.edu	37	1	192544966	192544966	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:192544966C>T	ENST00000367459.3	+	1	110	c.44C>T	c.(43-45)cCa>cTa	p.P15L	RGS1_ENST00000469578.2_Missense_Mutation_p.P15L	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	15					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.P15L(1)|p.P2L(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GACAAAATGCCAGGAATGTTC	0.428000													17	77					0	0	0.520397	0	0
GPNMB	10457	broad.mit.edu	37	7	23313759	23313759	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:23313759C>T	ENST00000258733.4	+	11	1894	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L	GPNMB_ENST00000381990.2_Silent_p.L545L|GPNMB_ENST00000453162.2_Silent_p.L487L|GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000539136.1_Silent_p.L434L			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	545					negative regulation of cell proliferation	melanosome		p.L545L(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GTGTCTTTCTCAACCGTGCAA	0.408000													49	108					0	0	0.870114	0	0
FAM35A	54537	broad.mit.edu	37	10	88911171	88911171	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:88911171C>T	ENST00000298786.4	+	3	174	c.60C>T	c.(58-60)atC>atT	p.I20I	FAM35A_ENST00000298784.1_Silent_p.I20I			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	20								p.I20I(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CACTGAAAATCACAGTATCAG	0.343000													13	101					0	0	0.500413	0	0
MYEF2	50804	broad.mit.edu	37	15	48444134	48444134	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:48444134C>A	ENST00000324324.7	-	12	1423	c.1144G>T	c.(1144-1146)Ggg>Tgg	p.G382W	MYEF2_ENST00000267836.6_Missense_Mutation_p.G382W	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	382	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	p.G382W(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CCACCAAACCCTATTCCTATG	0.408000													14	129					4.14922e-12	5.70875e-12	0.500413	1	0
GOLGA3	2802	broad.mit.edu	37	12	133357453	133357453	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:133357453C>T	ENST00000204726.3	-	18	4071	c.3513G>A	c.(3511-3513)aaG>aaA	p.K1171K	GOLGA3_ENST00000456883.2_Silent_p.K1171K|GOLGA3_ENST00000450791.2_Silent_p.K1171K	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1171					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.K1171K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGACAAGATGCTTCATCTGGC	0.537000													14	112					0	0	0.457914	0	0
CHGB	1114	broad.mit.edu	37	20	5903918	5903918	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:5903918G>C	ENST00000378961.4	+	4	1332	c.1128G>C	c.(1126-1128)caG>caC	p.Q376H		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	376						extracellular region	hormone activity	p.Q376H(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAAGACCTCAGAGTGAGGAGA	0.517000													23	186					0	0	0.624587	0	0
LOC349160	349160	broad.mit.edu	37	7	136848928	136848928	+	RNA	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:136848928C>A	ENST00000439694.1	-	0	164				AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000599888.1_RNA																							CACATTCAACCAGGTTGTGCT	0.507000													8	66					0.0581538	0.0595722	0.335167	1	0
LHFPL5	222662	broad.mit.edu	37	6	35773736	35773736	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:35773736G>T	ENST00000360215.1	+	1	666	c.289G>T	c.(289-291)Gcc>Tcc	p.A97S	LHFPL5_ENST00000373853.1_Missense_Mutation_p.A97S	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	97						integral to membrane		p.A97F(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CTTCAAGACTGCCATGTTCTT	0.537000													81	91					6.38486e-60	1.24575e-59	0.870114	1	0
COL12A1	1303	broad.mit.edu	37	6	75875472	75875472	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:75875472C>A	ENST00000322507.8	-	14	3043	c.2734G>T	c.(2734-2736)Gtt>Ttt	p.V912F	COL12A1_ENST00000483888.2_Missense_Mutation_p.V912F|COL12A1_ENST00000416123.2_Missense_Mutation_p.V912F|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	912	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.V912F(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCTTTAGTAACTAAATCTTGA	0.363000													23	150					2.98393e-07	3.554e-07	0.639603	1	0
C8orf34	116328	broad.mit.edu	37	8	69445253	69445253	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:69445253A>T	ENST00000337103.4	+	6	2233	c.641A>T	c.(640-642)cAg>cTg	p.Q214L	C8orf34_ENST00000518698.1_Missense_Mutation_p.Q325L|C8orf34_ENST00000539993.1_Missense_Mutation_p.Q239L|C8orf34_ENST00000348340.2_Missense_Mutation_p.Q239L			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	239					signal transduction		cAMP-dependent protein kinase regulator activity	p.Q239L(1)|p.Q214L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGATTAAAACAGCAGCAACAG	0.358000													56	83					0	0	0.870114	0	0
TAAR9	134860	broad.mit.edu	37	6	132860409	132860409	+	RNA	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:132860409C>A	ENST00000434551.1	+	0	981					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TTATTGTAAGCGGCAAGGTCT	0.328000													5	60					0.000602214	0.000637357	0.184627	1	0
SMARCAL1	50485	broad.mit.edu	37	2	217340026	217340026	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:217340026C>T	ENST00000357276.4	+	15	2609	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S760L	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	760	Helicase C-terminal.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	p.S760L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GGCTCCACCTCATCAGCTGAG	0.622000									Schimke Immuno-Osseous Dysplasia				20	80					0	0	0.592651	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764549	140764549	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:140764549G>T	ENST00000518325.1	+	1	2083	c.2083G>T	c.(2083-2085)Gtg>Ttg	p.V695L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1												p.V695L(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGGTGGTGGCGGTGGC	0.637000													3	28					1.23904e-05	1.37902e-05	0.184627	1	0
PKHD1	5314	broad.mit.edu	37	6	51612663	51612663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:51612663C>A	ENST00000371117.3	-	58	10026	c.9751G>T	c.(9751-9753)Gaa>Taa	p.E3251*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E3251*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3251					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.E3251*(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGATTTGGTTCTGAGGTGAAT	0.438000													75	100					1.75807e-36	3.23258e-36	0.870114	1	0
NOTCH4	4855	broad.mit.edu	37	6	32170317	32170317	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:32170317G>T	ENST00000375023.3	-	21	3429	c.3291C>A	c.(3289-3291)caC>caA	p.H1097Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1097	EGF-like 28.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.H1097Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCCTCCGTGGTGGCAGTGAT	0.632000													11	5					1.01871e-10	1.33268e-10	0.575678	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47123622	47123622	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:47123622G>T	ENST00000290341.3	+	14	1862	c.1527_splice	c.e14-1	p.V510_splice	IGF2BP1_ENST00000431824.2_Splice_Site_p.V371_splice	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	510	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.V510L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCACCCCCAGGTGAACGAGTT	0.557000													5	72					0.000157383	0.000169033	0.278610	1	0
TRAF3IP1	26146	broad.mit.edu	37	2	239234561	239234561	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:239234561G>A	ENST00000373327.4	+	3	526	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.E102K|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.E102K	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	102	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding	p.E102K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GCATGAGCCTGAAAGAACAAA	0.458000													12	28					0	0	0.457914	0	0
PNLIP	5406	broad.mit.edu	37	10	118313347	118313347	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:118313347A>G	ENST00000369221.2	+	6	596	c.568A>G	c.(568-570)Aca>Gca	p.T190A		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	190					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.T190A(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGGACGCATCACAGGTTGGTG	0.552000													34	36					0	0	0.769981	0	0
CACNA1C	775	broad.mit.edu	37	12	2760919	2760919	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:2760919C>A	ENST00000399655.1	+	32	4324	c.4059C>A	c.(4057-4059)ttC>ttA	p.F1353L	CACNA1C_ENST00000406454.3_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.F1340L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.F1342L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.F1381L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.F1375L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.F1373L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.F1342L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.F1370L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.F1353L|CACNA1C_ENST00000347598.4_Missense_Mutation_p.F1401L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.F1353L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.F1378L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.F1353L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1401					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.F1375L(1)|p.F1431L(1)|p.F1401L(1)|p.F1353L(1)|p.F888L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGTGGACCTTCATCAAGTCCT	0.647000													11	13					0.00136819	0.00143283	0.411799	1	0
DAB1	1600	broad.mit.edu	37	1	57480786	57480786	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:57480786T>A	ENST00000371236.2	-	12	1477	c.1214A>T	c.(1213-1215)aAg>aTg	p.K405M	DAB1_ENST00000371234.4_Missense_Mutation_p.K405M|DAB1_ENST00000371231.1_Missense_Mutation_p.K438M|DAB1_ENST00000420954.2_Missense_Mutation_p.K403M|DAB1_ENST00000414851.2_Missense_Mutation_p.K387M|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.K319M			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	438					cell differentiation|nervous system development			p.K405M(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTGCCTGGGCTTGTCGGTCTG	0.607000													11	101					0	0	0.361761	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194960	18194960	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:18194960G>C	ENST00000314254.3	+	1	577	c.157G>C	c.(157-159)Ggc>Cgc	p.G53R	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	53						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G53R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGGCTCCTGGGCTACCGCAT	0.552000													67	92					0	0	0.870114	0	0
BAI3	577	broad.mit.edu	37	6	69646450	69646450	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:69646450G>A	ENST00000370598.1	+	5	1729	c.908G>A	c.(907-909)tGt>tAt	p.C303Y		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	303	TSP type-1 1.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C303Y(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGAGCACATGTTCGGTTACT	0.468000													6	48					0	0	0.248553	0	0
TJP1	7082	broad.mit.edu	37	15	30020222	30020222	+	Splice_Site	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:30020222C>A	ENST00000346128.6	-	16	2493	c.2017_splice	c.e16-1	p.K673_splice	TJP1_ENST00000545208.2_Splice_Site_p.K673_splice|TJP1_ENST00000400011.2_Splice_Site_p.K677_splice|TJP1_ENST00000356107.6_Splice_Site_p.K673_splice	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	673	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.K673N(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTGGTTCACTCTCTATTCATT	0.398000													36	67					1.62957e-23	2.69792e-23	0.840704	1	0
OR5M10	390167	broad.mit.edu	37	11	56344905	56344905	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:56344905A>T	ENST00000526812.2	-	1	358	c.293T>A	c.(292-294)tTc>tAc	p.F98Y		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F98Y(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACACTGTGTGAAGCATCCAGC	0.438000													20	106					0	0	0.608945	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635158	122635158	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:122635158C>A	ENST00000249284.2	-	1	596	c.531G>T	c.(529-531)caG>caT	p.Q177H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	177					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.Q177H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAGCCTGGAACTGATACTGAT	0.408000													65	124					5.10652e-33	9.17794e-33	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179435906	179435906	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:179435906C>A	ENST00000589042.1	-	326	75177	c.74953G>T	c.(74953-74955)Gca>Tca	p.A24985S	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A22417S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A15920S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A16045S|TTN_ENST00000342175.6_Missense_Mutation_p.A16112S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A23344S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23344	Ig-like 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A15920S(1)|p.A16045S(1)|p.A16112S(1)|p.A22417S(1)|p.A22415S(1)		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)			ATGTTCTCTGCAGAGACTCTA	0.443000													24	130					4.47668e-21	7.10217e-21	0.667858	1	0
SPAG6	9576	broad.mit.edu	37	10	22700045	22700045	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:22700045G>T	ENST00000376603.2	+	10	1770	c.1628G>T	c.(1627-1629)gGt>gTt	p.G543V	SPAG6_ENST00000538630.1_Missense_Mutation_p.G442V|SPAG6_ENST00000376601.1_Missense_Mutation_p.G228V|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376624.3_Missense_Mutation_p.G467V|SPAG6_ENST00000313311.6_Intron			O75602	SPAG6_HUMAN	sperm associated antigen 6	467					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	p.G467I(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GCAGAACCTGGTTCTCTCCTT	0.408000													24	78					6.21321e-17	9.30233e-17	0.639603	1	0
ABCG4	64137	broad.mit.edu	37	11	119020801	119020801	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:119020801C>A	ENST00000307417.3	+	2	490	c.126C>A	c.(124-126)aaC>aaA	p.N42K	ABCG4_ENST00000531739.1_Missense_Mutation_p.N42K|ABCG4_ENST00000449422.2_Missense_Mutation_p.N42K	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	42					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.N42K(1)		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)		AGGTGGAGAACCACATCACTG	0.657000													21	54					6.33239e-15	9.13787e-15	0.592651	1	0
PAPPA2	60676	broad.mit.edu	37	1	176563851	176563851	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:176563851T>A	ENST00000367662.3	+	3	2275	c.1111T>A	c.(1111-1113)Tac>Aac	p.Y371N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.Y371N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	371					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.Y371N(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCAGCCACTTACGATGGACG	0.572000													19	59					0	0	0.740014	0	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212229	90212229	+	RNA	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:90212229C>A	ENST00000390277.2	+	0	418																											CAGTTTATTACTGTCAGCAGC	0.498000													8	85					3.09899e-07	3.67458e-07	0.307466	1	0
BDP1	55814	broad.mit.edu	37	5	70800487	70800487	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:70800487G>C	ENST00000358731.4	+	16	2544	c.2281G>C	c.(2281-2283)Gaa>Caa	p.E761Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	761					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.E761Q(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAAAGATTTTGAAGAGGAAGA	0.348000													20	94					0	0	0.575678	0	0
LPAR4	2846	broad.mit.edu	37	X	78010479	78010479	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:78010479A>C	ENST00000435339.2	+	2	518	c.113A>C	c.(112-114)aAg>aCg	p.K38T	RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Missense_Mutation_p.K38T	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	38						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.K38T(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GATTCCTTCAAGTATAATCTC	0.398000													74	303					0	0	0.870114	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960518	143960518	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:143960518G>A	ENST00000292427.4	-	2	357	c.325C>T	c.(325-327)Cac>Tac	p.H109Y	CYP11B1_ENST00000377675.3_Missense_Mutation_p.H154Y|CYP11B1_ENST00000517471.1_Missense_Mutation_p.H109Y	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	109					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.H109N(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCATCCTGTGGGGATGCAGG	0.612000									Familial Hyperaldosteronism type I				4	44					0	0	0.750413	0	0
CHD5	26038	broad.mit.edu	37	1	6206463	6206463	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:6206463C>A	ENST00000262450.3	-	11	1710	c.1611G>T	c.(1609-1611)gtG>gtT	p.V537V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	537	Chromo 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.V537V(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCGATACATCACCGTGTGGT	0.567000													29	30					3.73988e-18	5.71729e-18	0.706142	1	0
TEX37	200523	broad.mit.edu	37	2	88828700	88828700	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:88828700C>A	ENST00000303254.3	+	4	393	c.251C>A	c.(250-252)cCc>cAc	p.P84H		NM_152670.2	NP_689883.1			testis expressed 37									p.P84H(1)									CTGGGACTCCCCGGCTTCTTC	0.547000													18	127					7.45023e-12	1.0111e-11	0.592651	1	0
ZNF701	55762	broad.mit.edu	37	19	53085491	53085491	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:53085491C>T	ENST00000540331.1	+	5	602	c.377C>T	c.(376-378)tCa>tTa	p.S126L	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.S60L|ZNF701_ENST00000301093.2_Missense_Mutation_p.S126L	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S60L(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATGTTCTCATCAACAGGACAA	0.363000													21	95					0	0	0.592651	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431719	56431719	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:56431719C>A	ENST00000302969.2	+	1	582	c.558C>A	c.(556-558)gcC>gcA	p.A186A		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A186A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CACTCTTGGCCCTCTCTTGCT	0.458000													62	161					2.50483e-33	4.53254e-33	0.870114	1	0
C10orf76	79591	broad.mit.edu	37	10	103783277	103783277	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:103783277G>C	ENST00000370033.4	-	8	745	c.626C>G	c.(625-627)gCt>gGt	p.A209G		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	209						integral to membrane		p.A209G(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GAGGACGACAGCATCATACCC	0.453000													44	91					0	0	0.870114	0	0
MSLN	10232	broad.mit.edu	37	16	816888	816888	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:816888G>T	ENST00000566549.1	+	14	1794	c.1377G>T	c.(1375-1377)gcG>gcT	p.A459A	MSLN_ENST00000382862.3_Silent_p.A467A|MSLN_ENST00000545450.2_Silent_p.A459A|MSLN_ENST00000563941.1_Silent_p.A459A			Q13421	MSLN_HUMAN	mesothelin	467					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		p.A467A(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCCCCAGGGCGGTCAGGCCCC	0.647000													12	73					1.3612e-06	1.56294e-06	0.479597	1	0
DOCK10	55619	broad.mit.edu	37	2	225695309	225695309	+	Silent	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:225695309T>A	ENST00000409592.3	-	27	3080	c.2967A>T	c.(2965-2967)gcA>gcT	p.A989A	DOCK10_ENST00000258390.7_Silent_p.A995A			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	995							GTP binding	p.A993A(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTAGGATAATTGCAAAGAAGA	0.279000													4	11					0	0	0.184627	0	0
DNAH11	8701	broad.mit.edu	37	7	21603895	21603895	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:21603895C>A	ENST00000328843.6	+	6	1105	c.1074C>A	c.(1072-1074)cgC>cgA	p.R358R	DNAH11_ENST00000409508.3_Silent_p.R358R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	358	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R358R(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CACAGACACGCATATTAATCG	0.443000									Kartagener syndrome				31	69					2.08457e-15	3.05227e-15	0.750413	1	0
DSCAM	1826	broad.mit.edu	37	21	41667981	41667981	+	Splice_Site	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr21:41667981C>A	ENST00000400454.1	-	10	2660		c.e10+1			NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TAACTCCATACCTTTAGAGAA	0.418000													36	63					2.05212e-20	3.21727e-20	0.812448	1	0
MAP2K1	5604	broad.mit.edu	37	15	66727454	66727454	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:66727454A>C	ENST00000307102.5	+	2	701	c.170A>C	c.(169-171)aAg>aCg	p.K57T		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	57					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K57T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CTTACCCAGAAGCAGAAGGTG	0.542000													95	167					0	0	0.870114	0	0
DZIP3	9666	broad.mit.edu	37	3	108407548	108407548	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:108407548C>A	ENST00000361582.3	+	30	3609	c.3379C>A	c.(3379-3381)Cag>Aag	p.Q1127K	DZIP3_ENST00000463306.1_Missense_Mutation_p.Q1127K	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1127					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q1127K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ACTCACTTCACAGGGTCCTGC	0.438000													4	16					0.00198382	0.00207482	0.248553	1	0
CMTR2	55783	broad.mit.edu	37	16	71318668	71318668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:71318668C>A	ENST00000338099.5	-	3	1492	c.1156G>T	c.(1156-1158)Gga>Tga	p.G386*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.G386*			Q8IYT2	FTSJ1_HUMAN		386						integral to membrane	methyltransferase activity|nucleic acid binding	p.G386*(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCGCCTTTCCCATGCACTCA	0.323000													31	46					4.31634e-10	5.59162e-10	0.760397	1	0
SP4	6671	broad.mit.edu	37	7	21521652	21521652	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:21521652G>T	ENST00000222584.3	+	5	2236	c.2018G>T	c.(2017-2019)gGa>gTa	p.G673V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	673					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.G673V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGGCATACTGGAGAAAGACCT	0.403000													64	118					3.7469e-33	6.74949e-33	0.870114	1	0
PRSS3	5646	broad.mit.edu	37	9	33797891	33797891	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:33797891A>C	ENST00000361005.5	+	3	436	c.436A>C	c.(436-438)Aat>Cat	p.N146H	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.N103H|PRSS3_ENST00000429677.3_Missense_Mutation_p.N82H|PRSS3_ENST00000379405.3_Missense_Mutation_p.N89H	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	146	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	p.N89H(1)|p.N146H(1)		large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCAGTTCATCAATGCGGCCAA	0.542000													20	110					0	0	0.575678	0	0
MUC16	94025	broad.mit.edu	37	19	9077693	9077693	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:9077693G>T	ENST00000397910.4	-	3	9956	c.9753C>A	c.(9751-9753)gcC>gcA	p.A3251A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3252	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A3251A(2)		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						CACTTCCTAGGGCTGTGGACT	0.517000													44	157					2.93687e-30	5.19651e-30	0.870114	1	0
PIEZO2	63895	broad.mit.edu	37	18	10696195	10696195	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr18:10696195G>C	ENST00000302079.6	-	43	6727	c.6728C>G	c.(6727-6729)aCc>aGc	p.T2243S	PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2268S|PIEZO2_ENST00000538948.1_Missense_Mutation_p.T200S|PIEZO2_ENST00000285141.4_Missense_Mutation_p.T98S|PIEZO2_ENST00000503781.3_Missense_Mutation_p.T2243S			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2243						integral to membrane	ion channel activity	p.T2243S(1)|p.T98S(1)									CACCACCATGGTTCCAAACTG	0.522000													13	59					0	0	0.457914	0	0
RABL3	285282	broad.mit.edu	37	3	120449566	120449566	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:120449566C>A	ENST00000273375.3	-	2	144	c.115G>T	c.(115-117)Gtg>Ttg	p.V39L	RABL3_ENST00000483733.1_Missense_Mutation_p.V39L|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	39	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding	p.V39L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		GAGCAGCCCACAGTCCATGAT	0.363000													44	120					3.68337e-26	6.28062e-26	0.870114	1	0
IQSEC2	23096	broad.mit.edu	37	X	53280025	53280025	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:53280025C>A	ENST00000396435.3	-	5	1933	c.1733G>T	c.(1732-1734)tGc>tTc	p.C578F	IQSEC2_ENST00000375365.2_Missense_Mutation_p.C373F|IQSEC2_ENST00000375368.5_Missense_Mutation_p.C568F	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	568	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.C578F(1)|p.C575F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GCACTCCAAGCACCCGGGACC	0.652000													8	6					3.86212e-05	4.22188e-05	0.361761	1	0
OR4K5	79317	broad.mit.edu	37	14	20389218	20389218	+	Silent	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:20389218G>C	ENST00000315915.4	+	1	478	c.453G>C	c.(451-453)gtG>gtC	p.V151V		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V151V(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTGGGCTGTGAGCTTGGTGC	0.443000													115	819					0	0	0.870114	0	0
DOCK8	81704	broad.mit.edu	37	9	286497	286497	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:286497G>C	ENST00000453981.1	+	3	305	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	DOCK8_ENST00000432829.2_5'UTR|DOCK8_ENST00000469391.1_5'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	65					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.E65Q(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTGGACTTTGAAGGACTTCT	0.527000													14	60					0	0	0.457914	0	0
TRIP11	9321	broad.mit.edu	37	14	92484063	92484063	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:92484063T>A	ENST00000267622.4	-	5	993	c.620A>T	c.(619-621)gAt>gTt	p.D207V		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	207					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	p.D207V(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCACTTTGATCAGAGTTATC	0.289000			T	PDGFRB	AML								18	44					0	0	0.557998	0	0
PPIG	9360	broad.mit.edu	37	2	170493101	170493101	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:170493101G>T	ENST00000260970.3	+	14	1553	c.1333G>T	c.(1333-1335)Gat>Tat	p.D445Y	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.D430Y|PPIG_ENST00000448752.2_Missense_Mutation_p.D445Y	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	445			D -> E (in dbSNP:rs1050354).		protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.D445Y(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TTCAGAAAAAGATGACAAGTA	0.313000													8	23					0.307466	0.309405	0.307466	1	0
RPE65	6121	broad.mit.edu	37	1	68903886	68903886	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:68903886G>T	ENST00000262340.5	-	10	1165	c.1112C>A	c.(1111-1113)cCt>cAt	p.P371H		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	371					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.P371H(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AATATTCAAAGGAAGTACATA	0.373000													13	118					1.36491e-13	1.92099e-13	0.435327	1	0
DCHS1	8642	broad.mit.edu	37	11	6662213	6662213	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:6662213C>A	ENST00000299441.3	-	2	1043	c.632G>T	c.(631-633)gGg>gTg	p.G211V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	211	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G211V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCAGTTCCCCAGTAACTAC	0.617000													32	139					2.08457e-15	3.05227e-15	0.750413	1	0
OR6Y1	391112	broad.mit.edu	37	1	158517680	158517680	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:158517680G>T	ENST00000302617.3	-	1	215	c.216C>A	c.(214-216)tcC>tcA	p.S72S		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S72S(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCTCCAGGAAGGAGAGGTGGC	0.473000													39	116					9.45814e-24	1.56915e-23	0.804634	1	0
ADRBK1	156	broad.mit.edu	37	11	67051244	67051244	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:67051244G>T	ENST00000308595.5	+	16	1685	c.1395_splice	c.e16+1	p.K465_splice	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	465	AGC-kinase C-terminal.			K -> R (in Ref. 1; CAA43470).	activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R465S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TCTTGCAGAAGGTAACAGTCT	0.632000													13	52					4.7546e-09	5.95632e-09	0.500413	1	0
FBXO31	79791	broad.mit.edu	37	16	87367539	87367539	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:87367539C>A	ENST00000568879.1	-	1	340	c.341G>T	c.(340-342)tGg>tTg	p.W114L	FBXO31_ENST00000311635.7_Silent_p.V450V														p.V450V(1)|p.V278V(1)									AGCTCACGCCCACGGGCAGCA	0.667000													16	33					0.000958276	0.00101151	0.557998	1	0
TRIO	7204	broad.mit.edu	37	5	14369489	14369489	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:14369489A>T	ENST00000344204.4	+	18	3097	c.3073A>T	c.(3073-3075)Agc>Tgc	p.S1025C	TRIO_ENST00000537187.1_Missense_Mutation_p.S1025C|TRIO_ENST00000509967.2_Missense_Mutation_p.S976C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1025					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.S1025C(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACAGGTCTGCAGCGTCCTCGA	0.582000													6	78					0	0	0.248553	0	0
TIMD4	91937	broad.mit.edu	37	5	156381592	156381592	+	Silent	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:156381592T>A	ENST00000274532.2	-	2	290	c.234A>T	c.(232-234)tcA>tcT	p.S78S	TIMD4_ENST00000407087.3_Silent_p.S78S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	78	Ig-like V-type.					integral to membrane		p.S78S(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGACTTTCTTGAGGTCACCC	0.527000													16	87					0	0	0.500413	0	0
ZNF536	9745	broad.mit.edu	37	19	31039771	31039771	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:31039771G>T	ENST00000355537.3	+	4	3392	c.3245G>T	c.(3244-3246)gGt>gTt	p.G1082V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1082					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G1082V(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGGCCCAAGGTCAGCTCAAG	0.517000													59	50					2.53126e-37	4.69755e-37	0.870114	1	0
HS3ST3A1	9955	broad.mit.edu	37	17	13399534	13399534	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:13399534C>T	ENST00000284110.1	-	2	1998	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.D199N	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	401						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	p.D401N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGCCAAAGTCGTGCCCGGTC	0.433000													9	55					0	0	0.411799	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803511	185803511	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:185803511C>A	ENST00000302277.6	+	4	3982	c.3388C>A	c.(3388-3390)Cag>Aag	p.Q1130K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1130						intracellular	zinc ion binding	p.Q1130K(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCCACACCAACAGTTTCTTTC	0.537000													19	83					6.94344e-10	8.89385e-10	0.539581	1	0
GJB5	2709	broad.mit.edu	37	1	35223275	35223275	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:35223275G>T	ENST00000338513.1	+	2	517	c.344G>T	c.(343-345)cGc>cTc	p.R115L		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	115					cell communication|epidermis development	connexon complex|integral to membrane		p.R115L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				AACAGTGGGCGCCTCTACCTG	0.602000													63	132					1.61742e-36	2.98773e-36	0.870114	1	0
PPP2R2B	5521	broad.mit.edu	37	5	146070760	146070760	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:146070760C>T	ENST00000394413.3	-	4	948	c.378G>A	c.(376-378)agG>agA	p.R126R	PPP2R2B_ENST00000356826.3_Silent_p.R126R|PPP2R2B_ENST00000394410.2_Silent_p.R115R|PPP2R2B_ENST00000504198.1_Silent_p.R132R|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Silent_p.R115R|PPP2R2B_ENST00000336640.6_Silent_p.R129R|PPP2R2B_ENST00000453001.1_Silent_p.R126R|PPP2R2B_ENST00000394411.4_Silent_p.R126R|PPP2R2B_ENST00000394414.1_Silent_p.R192R|PPP2R2B_ENST00000394409.3_Silent_p.R184R			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	126					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R184R(1)|p.R129R(1)|p.R115R(1)|p.R126R(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCTTCTGGCCTCTTATCAC	0.517000													20	65					0	0	0.592651	0	0
NUDT13	25961	broad.mit.edu	37	10	74882005	74882005	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:74882005C>G	ENST00000357321.4	+	4	414	c.296C>G	c.(295-297)tCt>tGt	p.S99C	NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000349051.5_Missense_Mutation_p.S99C|NUDT13_ENST00000372997.3_Missense_Mutation_p.S99C|NUDT13_ENST00000488223.1_3'UTR	NM_015901.4	NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	99							hydrolase activity|metal ion binding	p.S99C(1)		large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					ATTGGATGCTCTGAGCAGCAG	0.453000													46	178					0	0	0.870114	0	0
TTF2	8458	broad.mit.edu	37	1	117626717	117626717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:117626717G>T	ENST00000369466.3	+	11	2025	c.1981G>T	c.(1981-1983)Gag>Tag	p.E661*		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	661	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	p.E661*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AAATGAGGTGGAGAAACGGGT	0.463000													23	106					1.37878e-21	2.20937e-21	0.654019	1	0
SLC2A9	56606	broad.mit.edu	37	4	9982270	9982270	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:9982270G>C	ENST00000506583.1	-	7	757	c.540C>G	c.(538-540)atC>atG	p.I180M	SLC2A9_ENST00000309065.3_Missense_Mutation_p.I180M|SLC2A9_ENST00000264784.3_Missense_Mutation_p.I209M			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	209					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.I180M(1)|p.I209M(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CGCCAATGCAGATAAAGATGG	0.577000													17	47					0	0	0.500413	0	0
OR4K1	79544	broad.mit.edu	37	14	20404218	20404218	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:20404218C>A	ENST00000285600.4	+	1	452	c.393C>A	c.(391-393)caC>caA	p.H131Q		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H131Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGCCTCTGCACTACAGTACAA	0.443000													50	329					1.78197e-24	2.9687e-24	0.870114	1	0
LYNX1	66004	broad.mit.edu	37	8	143856771	143856771	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:143856771G>A	ENST00000398906.1	-	4	549	c.165C>T	c.(163-165)ccC>ccT	p.P55P	LYNX1_ENST00000523332.1_Silent_p.P55P|LYNX1_ENST00000335822.5_Intron|LYNX1_ENST00000395192.2_Silent_p.P55P|LYNX1_ENST00000345173.6_Silent_p.P55P	NM_177477.2	NP_803430.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	59	UPAR/Ly6.					extracellular region		p.P55P(1)		endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCATCCTGGTGGGGGTGTAGT	0.647000													5	56					0	0	0.217242	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676909	234676909	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:234676909T>A	ENST00000360418.3	+	4	1128	c.1128T>A	c.(1126-1128)caT>caA	p.H376Q	UGT1A5_ENST00000373414.3_Missense_Mutation_p.H377Q|UGT1A10_ENST00000344644.5_Missense_Mutation_p.H373Q|UGT1A8_ENST00000373450.4_Missense_Mutation_p.H373Q|UGT1A6_ENST00000305139.6_Missense_Mutation_p.H375Q|UGT1A7_ENST00000373426.3_Missense_Mutation_p.H373Q|UGT1A10_ENST00000373445.1_Missense_Mutation_p.H373Q|UGT1A9_ENST00000354728.4_Missense_Mutation_p.H373Q|UGT1A6_ENST00000406651.1_Missense_Mutation_p.H108Q|UGT1A4_ENST00000373409.3_Missense_Mutation_p.H377Q|UGT1A3_ENST00000482026.1_Missense_Mutation_p.H377Q|UGT1A6_ENST00000373424.1_Missense_Mutation_p.H108Q|UGT1A1_ENST00000305208.5_Missense_Mutation_p.H376Q			P22309	UD11_HUMAN		376			H -> R (in CN1 and CN2).		bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.H373Q(4)|p.H377Q(3)|p.H375Q(1)|p.H376Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTGGTTCCCATGGTGTTTATG	0.493000													24	120					0	0	0.681144	0	0
MAP2	4133	broad.mit.edu	37	2	210558138	210558138	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:210558138T>A	ENST00000360351.4	+	7	1750	c.1244T>A	c.(1243-1245)aTa>aAa	p.I415K	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I411K|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	415					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.I415K(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAGGAGGCCATAAATCAAGAG	0.443000													14	72					0	0	0.500413	0	0
JAK1	3716	broad.mit.edu	37	1	65332725	65332725	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:65332725C>A	ENST00000342505.4	-	7	1062	c.814G>T	c.(814-816)Gct>Tct	p.A272S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	272	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.A272S(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCCAAGGTAGCCAAGTATTTC	0.373000			Mis		ALL								45	270					3.54909e-21	5.64178e-21	0.859065	1	0
NADSYN1	55191	broad.mit.edu	37	11	71208569	71208569	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:71208569G>T	ENST00000319023.2	+	19	1993	c.1805G>T	c.(1804-1806)gGg>gTg	p.G602V	NADSYN1_ENST00000530055.1_Missense_Mutation_p.G231V|NADSYN1_ENST00000539574.1_Missense_Mutation_p.G342V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	602	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	p.G602V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCGGTCTATGGGAAACTCAGG	0.532000													11	62					6.40141e-05	6.94066e-05	0.387290	1	0
CST4	1472	broad.mit.edu	37	20	23669590	23669590	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:23669590C>G	ENST00000217423.3	-	1	87	c.17G>C	c.(16-18)tGt>tCt	p.C6S		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	6						extracellular region	cysteine-type endopeptidase inhibitor activity	p.C6S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TAGCAGGGTACACAGAGGCCG	0.617000													9	50					0	0	0.479597	0	0
ACP1	52	broad.mit.edu	37	2	272282	272282	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:272282C>T	ENST00000272067.6	+	3	304	c.208C>T	c.(208-210)Cac>Tac	p.H70Y	ACP1_ENST00000439645.2_Missense_Mutation_p.H70Y|ACP1_ENST00000272065.5_Intron|ACP1_ENST00000407983.3_3'UTR|ACP1_ENST00000484464.1_Intron|ACP1_ENST00000405233.1_3'UTR	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	70						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.H70Y(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		TCATGGCATTCACACAGCCCA	0.468000													18	35					0	0	0.575678	0	0
TIAM2	26230	broad.mit.edu	37	6	155451515	155451515	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:155451515G>T	ENST00000461783.3	+	6	2431	c.1158G>T	c.(1156-1158)tgG>tgT	p.W386C	TIAM2_ENST00000456144.1_Missense_Mutation_p.W386C|TIAM2_ENST00000360366.4_Missense_Mutation_p.W386C|TIAM2_ENST00000318981.5_Missense_Mutation_p.W386C|TIAM2_ENST00000529824.2_Missense_Mutation_p.W386C|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	386					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.W386C(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCAGTGACTGGACGGGAAGCC	0.547000													10	55					0.00136819	0.00143283	0.411799	1	0
OR5B3	441608	broad.mit.edu	37	11	58170341	58170341	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:58170341G>T	ENST00000309403.2	-	1	541	c.542C>A	c.(541-543)gCa>gAa	p.A181E		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	181			A -> T (in dbSNP:rs11229411).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AACCATGACTGCTGGAATATC	0.403000													7	114					4.36969e-10	5.62421e-10	0.435327	1	0
MAGI2	9863	broad.mit.edu	37	7	77885848	77885848	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:77885848C>G	ENST00000354212.4	-	10	1712	c.1459G>C	c.(1459-1461)Gca>Cca	p.A487P	MAGI2_ENST00000536571.1_Missense_Mutation_p.A319P|MAGI2_ENST00000535697.1_Missense_Mutation_p.A324P|MAGI2_ENST00000522391.1_Missense_Mutation_p.A487P|MAGI2_ENST00000419488.1_Missense_Mutation_p.A487P	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	487	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding	p.A487P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACAACATCTGCATGAGTGTGT	0.413000													10	93					0	0	0.361761	0	0
HOXA5	3202	broad.mit.edu	37	7	27183102	27183102	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:27183102G>T	ENST00000222726.3	-	1	185	c.125C>A	c.(124-126)tCc>tAc	p.S42Y	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	42					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S42*(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GTACCTGCCGGAGTGCATGCT	0.607000													14	49					3.27435e-08	3.99531e-08	0.457914	1	0
OBSCN	84033	broad.mit.edu	37	1	228475809	228475809	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:228475809G>A	ENST00000570156.2	+	42	11220	c.11146G>A	c.(11146-11148)Gaa>Aaa	p.E3716K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E406K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3287K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2134K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E406K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3287K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2749	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.E3570K(1)|p.E3471K(1)|p.E3287K(1)|p.E3341K(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGCCACAGAAGGGGCCAC	0.597000													10	72					0	0	0.335167	0	0
TTK	7272	broad.mit.edu	37	6	80741183	80741183	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:80741183G>T	ENST00000509894.1	+	14	2347		c.e14-1		TTK_ENST00000230510.3_Splice_Site|TTK_ENST00000369798.2_Splice_Site			P33981	TTK_HUMAN	TTK protein kinase						mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TACTTATTTAGGTTTTAGCAT	0.299000													12	86					2.80697e-09	3.53865e-09	0.387290	1	0
SSFA2	6744	broad.mit.edu	37	2	182794337	182794337	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:182794337G>T	ENST00000320370.7	+	17	3837	c.3725G>T	c.(3724-3726)tGc>tTc	p.C1242F	SSFA2_ENST00000409001.1_3'UTR|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409136.1_3'UTR|SSFA2_ENST00000431877.2_3'UTR|SSFA2_ENST00000428267.2_3'UTR	NM_006751.5	NP_006742.2	P28290	SSFA2_HUMAN	sperm specific antigen 2	0						cytoplasm|plasma membrane	actin binding	p.C1242F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCAATGATATGCACTGGTGGA	0.338000													30	193					1.30293e-26	2.24082e-26	0.779181	1	0
DOCK9	23348	broad.mit.edu	37	13	99461650	99461650	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:99461650G>T	ENST00000376460.1	-	48	5403	c.5323C>A	c.(5323-5325)Cgc>Agc	p.R1775S	DOCK9_ENST00000339416.2_Missense_Mutation_p.R1776S|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1776	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R1776S(1)|p.R1775S(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)					AGAAGCCTGCGGCCCGAGTGC	0.542000													24	74					5.77227e-19	8.89242e-19	0.729181	1	0
OR5M3	219482	broad.mit.edu	37	11	56237377	56237377	+	Silent	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:56237377T>A	ENST00000312240.2	-	1	637	c.597A>T	c.(595-597)atA>atT	p.I199I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I199I(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGCCGGCAAGTATGATCATTG	0.413000													40	190					0	0	0.819951	0	0
LAMB1	3912	broad.mit.edu	37	7	107569637	107569637	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:107569637C>G	ENST00000393561.1	-	29	5015	c.4831G>C	c.(4831-4833)Gat>Cat	p.D1611H	LAMB1_ENST00000222399.6_Missense_Mutation_p.D1587H			P07942	LAMB1_HUMAN	laminin, beta 1	1587	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.D1587H(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTTTAACATCTGTTGCACTT	0.383000													32	203					0	0	0.769981	0	0
MYO7A	4647	broad.mit.edu	37	11	76870504	76870504	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:76870504G>C	ENST00000409709.3	+	10	1287	c.1015G>C	c.(1015-1017)Gaa>Caa	p.E339Q	MYO7A_ENST00000458637.2_Missense_Mutation_p.E339Q|MYO7A_ENST00000409893.1_Missense_Mutation_p.E339Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.E328Q	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	339	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.E339Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACGCACATTTGAAAACCTGGA	0.602000													14	49					0	0	0.479597	0	0
VCP	7415	broad.mit.edu	37	9	35061054	35061054	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:35061054G>A	ENST00000358901.6	-	11	2212	c.1317C>T	c.(1315-1317)gcC>gcT	p.A439A		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	439					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	p.A439A(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCATGACCTCGGCATCAATGG	0.527000													54	380					0	0	0.870114	0	0
DLX5	1749	broad.mit.edu	37	7	96651650	96651650	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:96651650C>A	ENST00000222598.4	-	2	860	c.387G>T	c.(385-387)atG>atT	p.M129I	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.M129I	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	129					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.M129_V130>IL(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGCCATTCACCATTCTCACCT	0.458000													16	166					0.000422831	0.000449294	0.500413	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254106	30254106	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:30254106C>G	ENST00000361644.2	+	5	802	c.65C>G	c.(64-66)aCc>aGc	p.T22S	MAGEB3_ENST00000378986.1_Missense_Mutation_p.T22S	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	22								p.T22S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CGGGGTCAGACCCAGGATCAC	0.517000													15	57					0	0	0.500413	0	0
PTPRT	11122	broad.mit.edu	37	20	40733211	40733211	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:40733211G>T	ENST00000373198.3	-	26	3839	c.3604C>A	c.(3604-3606)Cag>Aag	p.Q1202K	PTPRT_ENST00000373201.1_Missense_Mutation_p.Q1170K|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q1190K|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q1179K|PTPRT_ENST00000373187.1_Missense_Mutation_p.Q1180K|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q1183K|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q1189K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1180	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.Q1202K(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCATACCTGAAATTCATCT	0.443000													41	129					2.77807e-22	4.52428e-22	0.864702	1	0
ZNF474	133923	broad.mit.edu	37	5	121488479	121488479	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:121488479A>C	ENST00000296600.4	+	2	1177	c.794A>C	c.(793-795)aAg>aCg	p.K265T	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	265						intracellular	zinc ion binding	p.K265T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CTCCCACAGAAGCCTCAGCCC	0.552000													4	11					0	0	0.248553	0	0
TRIML1	339976	broad.mit.edu	37	4	189061773	189061773	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:189061773G>T	ENST00000332517.3	+	2	640	c.500G>T	c.(499-501)tGc>tTc	p.C167F		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	167					multicellular organismal development		ligase activity|zinc ion binding	p.C167F(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTGAAACTGTGCCAGGTCGGT	0.423000													27	46					3.90053e-15	5.65931e-15	0.760397	1	0
TRAV17	28666	broad.mit.edu	37	14	22466152	22466152	+	RNA	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:22466152C>A	ENST00000390445.2	+	0	229																											AGAAGAGGATCCTCAGGCCTT	0.418000													9	24					0.000274275	0.000291829	0.307466	1	0
NEURL4	84461	broad.mit.edu	37	17	7226813	7226813	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:7226813C>A	ENST00000399464.2	-	14	2423	c.2408G>T	c.(2407-2409)tGg>tTg	p.W803L	NEURL4_ENST00000570460.1_Missense_Mutation_p.W781L|NEURL4_ENST00000315614.7_Missense_Mutation_p.W803L	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.W803F(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTCAGCATCCATGTGTCATA	0.572000													24	24					7.87624e-14	1.1144e-13	0.639603	1	0
LRRC4B	94030	broad.mit.edu	37	19	51051826	51051826	+	Nonsense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:51051826G>C	ENST00000599957.1	-	2	467	c.270C>G	c.(268-270)taC>taG	p.Y90*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.Y90*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	90						cell junction|integral to membrane|presynaptic membrane		p.Y90*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCAGGTTCAGGTACCGCGTGT	0.667000													3	10					0	0	0.115264	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744679	135744679	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:135744679G>T	ENST00000375845.3	-	7	1793	c.1763C>A	c.(1762-1764)cCc>cAc	p.P588H	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P605H|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P475H|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.P588H(1)									TTGAAACCTGGGCAATTGCCA	0.428000													53	193					1.38658e-30	2.46434e-30	0.870114	1	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127565	32127565	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr21:32127565G>T	ENST00000335093.3	-	1	181	c.132C>A	c.(130-132)tcC>tcA	p.S44S		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	44						intermediate filament		p.S44S(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						agccataatgggagccaaacc	0.547000													4	61					3.59834e-05	3.9552e-05	0.217242	1	0
E4F1	1877	broad.mit.edu	37	16	2285496	2285496	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:2285496G>A	ENST00000301727.4	+	14	2326	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	E4F1_ENST00000564139.1_3'UTR|E4F1_ENST00000565090.1_Missense_Mutation_p.E583K	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	760					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.E760K(1)		ovary(1)	1						AGAGGACATCGAGATCCTGGA	0.652000													4	15					0	0	0.150653	0	0
UNC13C	440279	broad.mit.edu	37	15	54592569	54592569	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:54592569G>A	ENST00000545554.1	+	12	4266	c.4266G>A	c.(4264-4266)atG>atA	p.M1422I	UNC13C_ENST00000260323.11_Missense_Mutation_p.M1422I|UNC13C_ENST00000537900.1_Missense_Mutation_p.M1420I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1422					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.M1422I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCAAGCTATGACGTAAGTAC	0.333000													3	9					0	0	0.115264	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890035	23890035	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:23890035G>T	ENST00000532292.1	-	1	1140	c.1046C>A	c.(1045-1047)tCc>tAc	p.S349Y		NM_019066.4	NP_061939.3			MAGE-like 2									p.S349Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGGATCCTGGAGGTGCTAGG	0.667000													13	24					3.27435e-08	3.99531e-08	0.457914	1	0
SIK1	150094	broad.mit.edu	37	21	44838254	44838254	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr21:44838254C>A	ENST00000270162.6	-	12	1762	c.1630G>T	c.(1630-1632)Ggg>Tgg	p.G544W		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	544					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.G544W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GACTGCGACCCCAGGAAGGGC	0.716000													12	25					0.0242445	0.024964	0.479597	1	0
TRHDE	29953	broad.mit.edu	37	12	73046866	73046866	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:73046866G>T	ENST00000261180.4	+	17	2875	c.2779G>T	c.(2779-2781)Gct>Tct	p.A927S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	927					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.A927S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATCCATGTAGCTCGAAATCC	0.353000													23	108					4.72057e-08	5.72495e-08	0.667858	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250061	140250061	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:140250061A>T	ENST00000398640.2	+	1	1373	c.1373A>T	c.(1372-1374)gAg>gTg	p.E458V	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1												p.E458V(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGCCCGAGTACACCGTG	0.652000													21	86					0	0	0.592651	0	0
VCAM1	7412	broad.mit.edu	37	1	101190386	101190386	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:101190386G>A	ENST00000294728.2	+	4	969	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	VCAM1_ENST00000347652.2_Missense_Mutation_p.V290M|VCAM1_ENST00000370119.4_Missense_Mutation_p.V228M|VCAM1_ENST00000370115.1_Missense_Mutation_p.V290M	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	290	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.V290M(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TGGAATTTATGTGTGTGAAGG	0.358000													24	94					0	0	0.667858	0	0
HOMER1	9456	broad.mit.edu	37	5	78697767	78697767	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:78697767C>T	ENST00000334082.6	-	6	2081	c.639G>A	c.(637-639)caG>caA	p.Q213Q	HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Silent_p.Q39Q|HOMER1_ENST00000282260.6_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	213					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		p.Q213Q(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CAGCAAGTTGCTGTTTCCATT	0.478000													44	204					0	0	0.853193	0	0
CHAT	1103	broad.mit.edu	37	10	50827906	50827906	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:50827906C>A	ENST00000395562.2	+	4	746	c.277C>A	c.(277-279)Ctc>Atc	p.L93I	CHAT_ENST00000455728.2_Missense_Mutation_p.L57I|CHAT_ENST00000351556.3_Missense_Mutation_p.L57I|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Missense_Mutation_p.L57I|CHAT_ENST00000339797.1_Missense_Mutation_p.L57I|CHAT_ENST00000337653.2_Missense_Mutation_p.L175I	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	175					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.L175I(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCCTGGTGGCCTCGGCGAGAC	0.622000													7	10					1.08611e-07	1.30924e-07	0.387290	1	0
COL28A1	340267	broad.mit.edu	37	7	7571510	7571510	+	Silent	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:7571510G>C	ENST00000399429.3	-	3	290	c.150C>G	c.(148-150)gtC>gtG	p.V50V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	50	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.V50V(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCACGATGAAGACAATATCTA	0.358000													10	100					0	0	0.335167	0	0
DNAH17	8632	broad.mit.edu	37	17	76433798	76433798	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:76433798G>A	ENST00000389840.5	-	74	12064	c.11940C>T	c.(11938-11940)aaC>aaT	p.N3980N	DNAH17_ENST00000585328.1_Silent_p.N3981N|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17									p.N3981N(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTTGATGGCGTTCTCCAGAA	0.652000													7	26					0	0	0.361761	0	0
SEMA4G	57715	broad.mit.edu	37	10	102732998	102732998	+	Silent	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:102732998C>G	ENST00000210633.3	+	2	315	c.237C>G	c.(235-237)ctC>ctG	p.L79L	SEMA4G_ENST00000370250.4_Silent_p.L79L|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Silent_p.L79L			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	79	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.L79L(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TGTTCTCTCTCAGTGCCAACG	0.607000													3	61					0	0	0.150653	0	0
CD163L1	283316	broad.mit.edu	37	12	7585988	7585988	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:7585988C>A	ENST00000313599.3	-	3	484	c.427G>T	c.(427-429)Gtt>Ttt	p.V143F	CD163L1_ENST00000416109.2_Missense_Mutation_p.V143F|CD163L1_ENST00000396630.1_Missense_Mutation_p.V143F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	143	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.V143F(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCACACCAACATCTTCTCCA	0.438000													44	80					2.84776e-26	4.87663e-26	0.870114	1	0
AIM2	9447	broad.mit.edu	37	1	159032508	159032508	+	Splice_Site	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:159032508C>A	ENST00000368130.4	-	6	1294	c.1005_splice	c.e6-1	p.V336_splice		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	336	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.V336F(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GCCTTAATAACCTGGATGGAG	0.398000													14	71					4.3838e-07	5.1521e-07	0.435327	1	0
NSRP1	84081	broad.mit.edu	37	17	28506276	28506276	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:28506276G>A	ENST00000247026.5	+	5	532	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	157	Necessary for alternative splicing activity.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	p.E157K(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AGAGAGAGCTGAAGAAGAAGA	0.408000													7	29					0	0	0.278610	0	0
AGL	178	broad.mit.edu	37	1	100340791	100340791	+	Silent	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:100340791C>G	ENST00000294724.4	+	9	1642	c.1164C>G	c.(1162-1164)ctC>ctG	p.L388L	AGL_ENST00000477753.1_3'UTR|AGL_ENST00000361915.3_Silent_p.L388L|AGL_ENST00000361302.3_Silent_p.L372L|AGL_ENST00000370165.3_Silent_p.L388L|AGL_ENST00000370161.2_Silent_p.L372L|AGL_ENST00000361522.4_Silent_p.L371L|AGL_ENST00000370163.3_Silent_p.L388L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	388					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.L388L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGCATCGACTCATTAACTATC	0.368000													19	61					0	0	0.539581	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221988	1221988	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:1221988C>T	ENST00000304460.10	+	12	1930	c.1874C>T	c.(1873-1875)aCa>aTa	p.T625I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	625					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T625I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACACTGTCCACAGCCTCCATG	0.602000													10	29					0	0	0.435327	0	0
PTPRT	11122	broad.mit.edu	37	20	41076865	41076865	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:41076865A>T	ENST00000373198.3	-	9	1790	c.1555T>A	c.(1555-1557)Tac>Aac	p.Y519N	PTPRT_ENST00000373201.1_Missense_Mutation_p.Y519N|PTPRT_ENST00000373184.1_Missense_Mutation_p.Y519N|PTPRT_ENST00000373190.1_Missense_Mutation_p.Y519N|PTPRT_ENST00000373187.1_Missense_Mutation_p.Y519N|PTPRT_ENST00000373193.3_Missense_Mutation_p.Y519N|PTPRT_ENST00000356100.2_Missense_Mutation_p.Y519N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	519	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.Y519N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTTACCTCGTAGAGCGTGATG	0.488000													98	252					0	0	0.870114	0	0
CLCN3	1182	broad.mit.edu	37	4	170634343	170634343	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:170634343C>G	ENST00000513761.1	+	12	2822	c.2263C>G	c.(2263-2265)Ctt>Gtt	p.L755V	CLCN3_ENST00000347613.4_Missense_Mutation_p.L755V|CLCN3_ENST00000504131.2_Missense_Mutation_p.L738V|CLCN3_ENST00000360642.3_Missense_Mutation_p.L728V	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	755	CBS 2.				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	p.L755V(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TCGAAGCATTCTTGACATGAG	0.493000													18	110					0	0	0.539581	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960508	143960508	+	Missense_Mutation	SNP	C	C	A	rs61751139		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:143960508C>A	ENST00000292427.4	-	2	367	c.335G>T	c.(334-336)aGc>aTc	p.S112I	CYP11B1_ENST00000377675.3_Missense_Mutation_p.S157I|CYP11B1_ENST00000517471.1_Missense_Mutation_p.S112I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	112					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.S112I(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGCTCCAGGCTCATCCTGTG	0.617000									Familial Hyperaldosteronism type I				7	35					4.4194e-11	5.84856e-11	0.769981	1	0
SERPING1	710	broad.mit.edu	37	11	57382045	57382045	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:57382045C>T	ENST00000403558.1	+	7	1989	c.1623C>T	c.(1621-1623)ccC>ccT	p.P541P	SERPING1_ENST00000378323.4_Silent_p.P503P|SERPING1_ENST00000378324.2_Silent_p.P446P|SERPING1_ENST00000340687.6_Silent_p.P461P|SERPING1_ENST00000278407.4_Silent_p.P498P	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	498					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	p.P498P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TATATGACCCCAGGGCCTGAG	0.622000													6	50					0	0	0.217242	0	0
PRRG3	79057	broad.mit.edu	37	X	150869017	150869017	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:150869017G>C	ENST00000370353.3	+	4	598	c.208G>C	c.(208-210)Gtc>Ctc	p.V70L	PRRG3_ENST00000538575.1_Missense_Mutation_p.V70L|PRRG3_ENST00000370354.1_3'UTR			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	70						extracellular region|integral to membrane	calcium ion binding	p.V70L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTACTCTGTCCGAGACCC	0.527000													112	209					0	0	0.870114	0	0
ELP4	26610	broad.mit.edu	37	11	31531344	31531344	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:31531344G>T	ENST00000395934.2	+	1	20	c.13G>T	c.(13-15)Gca>Tca	p.A5S	ELP4_ENST00000379163.5_Missense_Mutation_p.A5S|ELP4_ENST00000350638.5_Missense_Mutation_p.A5S			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	5					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	p.A5S(2)		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)					GGCGGCAGTGGCAACCTGCGG	0.587000													5	17					1.08611e-07	1.30924e-07	0.387290	1	0
PRRC2B	84726	broad.mit.edu	37	9	134319603	134319603	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:134319603C>G	ENST00000357304.4	+	5	556	c.501C>G	c.(499-501)ttC>ttG	p.F167L	PRRC2B_ENST00000405995.1_Missense_Mutation_p.F167L|PRRC2B_ENST00000458550.1_Missense_Mutation_p.F167L	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	167							protein binding	p.F167L(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGTTATCCTTCTCTCCCGAGG	0.547000													10	36					0	0	0.361761	0	0
KNDC1	85442	broad.mit.edu	37	10	135012104	135012104	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:135012104G>T	ENST00000304613.3	+	14	2113	c.2092G>T	c.(2092-2094)Gag>Tag	p.E698*	KNDC1_ENST00000368572.2_Nonsense_Mutation_p.E698*|KNDC1_ENST00000368571.2_Nonsense_Mutation_p.E633*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	698					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.E698*(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTTGGCCCAGGAGGAGTCCGA	0.706000													5	4					2.7689e-08	3.40984e-08	0.248553	1	0
LECT1	11061	broad.mit.edu	37	13	53307452	53307452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:53307452G>A	ENST00000448904.2	-	3	366	c.256C>T	c.(256-258)Caa>Taa	p.Q86*	LECT1_ENST00000377962.3_Nonsense_Mutation_p.Q86*	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	86					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		p.Q86*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GACCCATCTTGTAATTTCCCA	0.383000													90	174					0	0	0.870114	0	0
WDFY3	23001	broad.mit.edu	37	4	85701425	85701425	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:85701425C>G	ENST00000322366.6	-	26	4608	c.4201G>C	c.(4201-4203)Gtt>Ctt	p.V1401L	WDFY3_ENST00000295888.4_Missense_Mutation_p.V1401L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1401						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.V1401L(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTAGTGGCAACAGGCTTAGGG	0.443000													46	87					0	0	0.859065	0	0
TNR	7143	broad.mit.edu	37	1	175332952	175332952	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:175332952G>T	ENST00000367674.1	-	13	3307	c.2599C>A	c.(2599-2601)Cca>Aca	p.P867T	TNR_ENST00000263525.2_Missense_Mutation_p.P867T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	867	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.P867T(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATGTCTTTTGGGGGATCAATT	0.443000													22	106					2.89027e-11	3.83129e-11	0.624587	1	0
TBR1	10716	broad.mit.edu	37	2	162279909	162279909	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:162279909T>A	ENST00000389554.3	+	6	1537	c.1220T>A	c.(1219-1221)cTg>cAg	p.L407Q	TBR1_ENST00000410035.1_Missense_Mutation_p.L120Q|TBR1_ENST00000489530.1_3'UTR|AC009487.4_ENST00000437683.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	407						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L407Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ATGGACCGCCTGACCCCCTCG	0.692000													5	34					0	0	0.307466	0	0
TMTC1	83857	broad.mit.edu	37	12	29665010	29665010	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:29665010G>T	ENST00000256062.5	-	17	2623	c.2150C>A	c.(2149-2151)gCc>gAc	p.A717D	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.A887D|TMTC1_ENST00000552618.1_Missense_Mutation_p.A849D|TMTC1_ENST00000539277.1_Missense_Mutation_p.A825D	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	825						integral to membrane	binding	p.A717D(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTCATCCAGGCCTGTGCTTG	0.458000													41	262					5.04308e-16	7.43877e-16	0.819951	1	0
IGLV7-46	28775	broad.mit.edu	37	22	22724453	22724453	+	RNA	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr22:22724453C>A	ENST00000390295.2	+	0	383																											TAGTGGTGCTCGGCACAGTGA	0.552000													17	23					3.45872e-05	3.81751e-05	0.500413	1	0
GNAT3	346562	broad.mit.edu	37	7	80108232	80108232	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:80108232C>T	ENST00000398291.3	-	4	479	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	129					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R129Q(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TCTCCACAGCCGTTTTATTAC	0.443000													96	137					0	0	0.870114	0	0
CNTLN	54875	broad.mit.edu	37	9	17135167	17135167	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:17135167G>C	ENST00000380647.3	+	1	188	c.104G>C	c.(103-105)cGc>cCc	p.R35P	CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000262360.5_Missense_Mutation_p.R35P|CNTLN_ENST00000380641.4_Missense_Mutation_p.R35P|CNTLN_ENST00000425824.1_Missense_Mutation_p.R35P			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	35						centriole|membrane	two-component sensor activity	p.R35P(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CACGCAATGCGCAGCGAGGCC	0.697000													3	6					0	0	0.115264	0	0
RP1L1	94137	broad.mit.edu	37	8	10473996	10473996	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:10473996C>A	ENST00000382483.3	-	3	934	c.711G>T	c.(709-711)gaG>gaT	p.E237D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	237					intracellular signal transduction			p.E237D(1)		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)		AAGTTTCAGCCTCGCTTCTCC	0.542000													17	62					1.02788e-11	1.3879e-11	0.520397	1	0
VANGL1	81839	broad.mit.edu	37	1	116206455	116206455	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:116206455C>T	ENST00000355485.2	+	4	649	c.378C>T	c.(376-378)acC>acT	p.T126T	VANGL1_ENST00000310260.3_Silent_p.T126T|VANGL1_ENST00000369509.1_Silent_p.T126T|VANGL1_ENST00000369510.3_Silent_p.T124T	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	126					multicellular organismal development	integral to membrane	protein binding	p.T126T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTTTCCTCACCCCTATTGCCT	0.532000													25	112					0	0	0.654019	0	0
VKORC1	79001	broad.mit.edu	37	16	31105880	31105880	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:31105880G>T	ENST00000319788.7	-	1	381	c.171C>A	c.(169-171)tcC>tcA	p.S57S	RP11-196G11.1_ENST00000529564.1_Silent_p.S57S|VKORC1_ENST00000300851.6_Silent_p.S57S|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000394975.2_Silent_p.S57S|VKORC1_ENST00000354895.4_Silent_p.S57S			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	57					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	p.S57S(1)		lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GTGCACACCTGGAGGAGAAGA	0.687000													11	13					4.36969e-10	5.62421e-10	0.435327	1	0
KLK8	11202	broad.mit.edu	37	19	51501051	51501051	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:51501051C>A	ENST00000600767.1	-	6	1072	c.583G>T	c.(583-585)Ggc>Tgc	p.G195C	KLK8_ENST00000598195.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000291726.7_Missense_Mutation_p.G195C|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Missense_Mutation_p.G54C|KLK8_ENST00000391806.2_Missense_Mutation_p.G240C			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	195	Peptidase S1.			G -> V (in Ref. 11; AAH40887).	cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.G240C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CAGACCATGCCATCTGTGATC	0.512000													46	73					8.20599e-20	1.27898e-19	0.859065	1	0
PCDHA11	56138	broad.mit.edu	37	5	140248772	140248772	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:140248772C>A	ENST00000398640.2	+	1	84	c.84C>A	c.(82-84)agC>agA	p.S28R	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1												p.S28R(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGGGAGCGGCCAGCTCC	0.622000													15	53					8.00594e-06	8.94782e-06	0.557998	1	0
ARFIP1	27236	broad.mit.edu	37	4	153803943	153803943	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:153803943C>A	ENST00000451320.2	+	7	866	c.702C>A	c.(700-702)gcC>gcA	p.A234A	ARFIP1_ENST00000405727.2_Silent_p.A202A|ARFIP1_ENST00000429148.2_Silent_p.A54A|ARFIP1_ENST00000356064.3_Silent_p.A202A|ARFIP1_ENST00000353617.2_Silent_p.A234A			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	234	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		p.A234A(2)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TTCTTGGGGCCATTAATTTTT	0.363000													58	54					4.17463e-26	7.1031e-26	0.870114	1	0
IGHM	3507	broad.mit.edu	37	14	106321244	106321244	+	RNA	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:106321244G>C	ENST00000390559.2	-	0	744																											TAGGTGGTCAGGTCTGTGACC	0.567000													5	75					0	0	0.184627	0	0
MGAT5	4249	broad.mit.edu	37	2	135076304	135076304	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:135076304C>T	ENST00000409645.1	+	5	819	c.567C>T	c.(565-567)ctC>ctT	p.L189L	MGAT5_ENST00000281923.2_Silent_p.L189L			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	189					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	p.L189L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTATTTACCTCAGTGAGGTGA	0.458000													35	137					0	0	0.760397	0	0
DSG1	1828	broad.mit.edu	37	18	28935179	28935179	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr18:28935179G>T	ENST00000257192.4	+	15	3232	c.3020G>T	c.(3019-3021)gGa>gTa	p.G1007V	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G366V	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1007	Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.G1007V(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGCAGCTTGGGAGGGACAGCC	0.587000													21	28					3.08376e-08	3.7743e-08	0.654019	1	0
ANK1	286	broad.mit.edu	37	8	41550651	41550651	+	Missense_Mutation	SNP	C	C	A	rs139513895		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:41550651C>A	ENST00000396942.1	-	30	3684	c.3601G>T	c.(3601-3603)Gcc>Tcc	p.A1201S	ANK1_ENST00000289734.7_Missense_Mutation_p.A1201S|ANK1_ENST00000265709.8_Missense_Mutation_p.A1242S|ANK1_ENST00000347528.4_Missense_Mutation_p.A1201S|ANK1_ENST00000396945.1_Missense_Mutation_p.A1201S|ANK1_ENST00000352337.4_Missense_Mutation_p.A1201S|ANK1_ENST00000379758.2_Missense_Mutation_p.A1201S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1201					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.A1201S(1)|p.A1201T(1)|p.A1242S(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGAAGTTGGCGCACTCGTTG	0.577000													67	68					2.18329e-32	3.89768e-32	0.870114	1	0
DOCK8	81704	broad.mit.edu	37	9	340166	340166	+	Silent	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:340166A>G	ENST00000432829.2	+	14	1636	c.1320A>G	c.(1318-1320)ctA>ctG	p.L440L	DOCK8_ENST00000453981.1_Silent_p.L508L|DOCK8_ENST00000469391.1_Silent_p.L440L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	508	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.L440L(1)|p.L508L(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAGGCTTGCTAAGACTGGAGA	0.423000													16	88					0	0	0.557998	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627756	43627756	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:43627756G>C	ENST00000332857.6	-	4	959	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.Q311K(1)|p.Q311E(1)									GCTTCCATCTGACAGGTCTCT	0.532000													124	255					0	0	0.870114	0	0
ENPP2	5168	broad.mit.edu	37	8	120638941	120638941	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:120638941C>A	ENST00000427067.2	-	3	324	c.144G>T	c.(142-144)tgG>tgT	p.W48C	ENPP2_ENST00000259486.6_Missense_Mutation_p.W52C|ENPP2_ENST00000522826.1_Missense_Mutation_p.W52C|ENPP2_ENST00000075322.6_Missense_Mutation_p.W52C			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	52					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.W52C(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGATGTTGGTCCAGGGGGAGT	0.512000													14	151					7.93312e-07	9.2015e-07	0.457914	1	0
PRSS37	136242	broad.mit.edu	37	7	141537763	141537763	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:141537763G>T	ENST00000350549.3	-	3	698	c.327C>A	c.(325-327)gcC>gcA	p.A109A	PRSS37_ENST00000438520.1_Silent_p.A109A	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	109	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A109A(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GATTGAGCATGGCAGGCTTAG	0.532000													92	105					5.92634e-42	1.12333e-41	0.870114	1	0
PSG2	5670	broad.mit.edu	37	19	43586697	43586697	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:43586697A>G	ENST00000406487.1	-	1	123	c.25T>C	c.(25-27)Tgc>Cgc	p.C9R	PSG2_ENST00000491995.1_5'UTR	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	9					cell migration|female pregnancy	extracellular region		p.C9R(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGCTCTGTGCAGGGAGGGGCT	0.582000													47	133					0	0	0.870114	0	0
COL19A1	1310	broad.mit.edu	37	6	70647993	70647993	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:70647993G>T	ENST00000322773.4	+	9	1038		c.e9+1			NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.?(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGAGAGCCGGTAAGAAAAAA	0.373000													9	70					5.68852e-11	7.49083e-11	0.307466	1	0
NR5A2	2494	broad.mit.edu	37	1	200143263	200143263	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:200143263C>T	ENST00000367362.3	+	8	1797	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	NR5A2_ENST00000544748.1_Silent_p.L445L|NR5A2_ENST00000236914.3_Silent_p.L471L	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	517					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.L517L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AAGAATACCTCTACTACAAGC	0.463000													25	75					0	0	0.667858	0	0
COL4A2	1284	broad.mit.edu	37	13	111119407	111119407	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:111119407G>C	ENST00000360467.5	+	27	2365	c.2059G>C	c.(2059-2061)Gga>Cga	p.G687R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	687	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G687R(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGGCCCAAGGGATTGCCAGG	0.597000													26	78					0	0	0.706142	0	0
CXorf67	340602	broad.mit.edu	37	X	51150411	51150411	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:51150411C>A	ENST00000342995.2	+	1	645	c.543C>A	c.(541-543)ccC>ccA	p.P181P						chromosome X open reading frame 67									p.P181P(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GGTTCCGGCCCAGCAGCTATC	0.652000													3	3					2.0095e-06	2.29083e-06	0.248553	1	0
POLA2	23649	broad.mit.edu	37	11	65048471	65048471	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:65048471C>T	ENST00000265465.3	+	8	1284	c.753C>T	c.(751-753)gtC>gtT	p.V251V	POLA2_ENST00000541089.1_Silent_p.V43V	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	251					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|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	p.V251V(2)		endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGGAGCCTGTCACTCTGCTGG	0.493000													32	90					0	0	0.840704	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435726	104435726	+	RNA	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:104435726G>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GACTCAGAGAGTGATGGTCTG	0.413000													4	15					0.00024832	0.000264919	0.150653	1	0
ZNF681	148213	broad.mit.edu	37	19	23927877	23927877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:23927877C>A	ENST00000402377.3	-	4	616	c.475G>T	c.(475-477)Gga>Tga	p.G159*	ZNF681_ENST00000395385.3_Nonsense_Mutation_p.G90*	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G159*(1)|p.G90*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACCTTATGTCCATTTAAATTT	0.259000													12	17					5.16669e-11	6.8149e-11	0.387290	1	0
ITFG1	81533	broad.mit.edu	37	16	47252779	47252779	+	Splice_Site	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:47252779C>G	ENST00000320640.6	-	14	1681	c.1453_splice	c.e14+1	p.A485_splice	ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Splice_Site_p.A372_splice	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	485						extracellular region|integral to membrane		p.A485P(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CTGGTCTTACCTGATCCATTT	0.333000													23	71					0	0	0.693898	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			4	26					0.00024832	0.000264919	0.150653	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559862	140559862	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:140559862C>A	ENST00000239444.2	+	1	2492	c.2247C>A	c.(2245-2247)aaC>aaA	p.N749K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		749					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N749K(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCTCAGAACTATCAGTACG	0.597000													17	109					7.45023e-12	1.0111e-11	0.592651	1	0
WASF3	10810	broad.mit.edu	37	13	27255391	27255391	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:27255391C>T	ENST00000361042.4	+	8	1133	c.908C>T	c.(907-909)cCc>cTc	p.P303L	WASF3_ENST00000335327.5_Missense_Mutation_p.P306L			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	306					actin filament polymerization	cytoplasm|cytoskeleton	actin binding	p.P306L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGCCGCCCCCCCCGCCTCCC	0.677000													20	24					0	0	0.693898	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843071	22843071	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr22:22843071G>A	ENST00000360412.2	-	4	1428	c.653C>T	c.(652-654)cCc>cTc	p.P218L	ZNF280B_ENST00000406426.1_Missense_Mutation_p.P218L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P218L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATTATTTGAGGGTGTACTTTG	0.388000													28	284					0	0	0.729181	0	0
NEXN	91624	broad.mit.edu	37	1	78399075	78399075	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:78399075G>A	ENST00000330010.8	+	9	1267	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	NEXN_ENST00000457030.1_Missense_Mutation_p.E374K|NEXN_ENST00000334785.7_Missense_Mutation_p.E388K|NEXN_ENST00000480732.1_3'UTR	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	388	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	p.E388K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAAAATGGAAGAAGAAAAACG	0.353000													10	50					0	0	0.335167	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735551	55735551	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:55735551T>A	ENST00000312345.2	-	1	439	c.389A>T	c.(388-390)aAa>aTa	p.K130I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K130I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AATGCAGACTTTGTGGTTCAT	0.458000													34	64					0	0	0.769981	0	0
FBXL19	54620	broad.mit.edu	37	16	30937210	30937210	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:30937210C>T	ENST00000338343.4	+	2	522	c.135C>T	c.(133-135)ccC>ccT	p.P45P	FBXL19_ENST00000565690.1_Silent_p.P45P|FBXL19_ENST00000562319.1_Silent_p.P45P|FBXL19_ENST00000380310.2_Silent_p.P65P|FBXL19_ENST00000471231.2_5'UTR			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	65	Arg-rich.						DNA binding|zinc ion binding	p.P65P(1)		breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TCGGGGGGCCCGGGCGCATGA	0.662000													3	6					0	0	0.115264	0	0
PNISR	25957	broad.mit.edu	37	6	99857222	99857222	+	Splice_Site	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:99857222T>A	ENST00000369239.5	-	6	706		c.e6-2		PNISR_ENST00000438806.1_Splice_Site	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein							nuclear speck		p.?(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGCCCCATGCTGAAAGAGTAT	0.458000													39	61					0	0	0.840704	0	0
MRC2	9902	broad.mit.edu	37	17	60744814	60744814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:60744814G>A	ENST00000303375.5	+	6	1439	c.1037G>A	c.(1036-1038)tGg>tAg	p.W346*		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	346	C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding	p.W346*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TCGGGCGGCTGGCAGAACCGT	0.672000													18	40					0	0	0.575678	0	0
BLK	640	broad.mit.edu	37	8	11412873	11412873	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:11412873C>G	ENST00000259089.4	+	8	1244	c.652C>G	c.(652-654)Ctg>Gtg	p.L218V	BLK_ENST00000529894.1_Missense_Mutation_p.L147V	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	218	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.L218V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GAGGCTGACCCTGCCCTGTGT	0.617000													9	56					0	0	0.411799	0	0
CXCR1	3577	broad.mit.edu	37	2	219029412	219029412	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:219029412G>A	ENST00000295683.2	-	2	643	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	175					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.R175C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TAAGCCTGGCGGAAAAGGAAG	0.522000													9	37					0	0	0.307466	0	0
NLRP13	126204	broad.mit.edu	37	19	56413553	56413553	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:56413553C>A	ENST00000588751.1	-	9	2661	c.2637G>T	c.(2635-2637)ctG>ctT	p.L879L	NLRP13_ENST00000342929.3_Silent_p.L879L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	879							ATP binding	p.L879L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGGGTGCTGCCAGCTGGCAAA	0.592000													8	25					3.86212e-05	4.22188e-05	0.361761	1	0
APAF1	317	broad.mit.edu	37	12	99097167	99097167	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:99097167A>T	ENST00000550527.1	+	17	2459	c.2452A>T	c.(2452-2454)Agt>Tgt	p.S818C	APAF1_ENST00000339433.3_Intron|APAF1_ENST00000359972.2_Intron|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000547045.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.S829C|APAF1_ENST00000357310.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000333991.1_Intron			O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	829					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	p.S829C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CATTCATACTAGTGGCCTATT	0.398000													15	78					0	0	0.500413	0	0
NIPBL	25836	broad.mit.edu	37	5	36986345	36986345	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:36986345G>T	ENST00000282516.8	+	10	3562	c.3063G>T	c.(3061-3063)gaG>gaT	p.E1021D	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1021D|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1021					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.E1021D(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGATAGAGAGGACAAATCAA	0.303000													31	195					1.13719e-10	1.48523e-10	0.729181	1	0
MCM6	4175	broad.mit.edu	37	2	136633878	136633878	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:136633878C>A	ENST00000264156.2	-	1	118	c.58G>T	c.(58-60)Gac>Tac	p.D20Y		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	20					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|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	p.D20Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GCCACCTCGTCGCGGACCTCC	0.701000													5	11					0.0381472	0.0391279	0.278610	1	0
CTSF	8722	broad.mit.edu	37	11	66333189	66333189	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:66333189C>A	ENST00000310325.5	-	8	1107	c.998G>T	c.(997-999)tGc>tTc	p.C333F		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	333					proteolysis	lysosome	cysteine-type endopeptidase activity	p.C333F(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCCGCCCATGCAGGCCTTGTC	0.567000													38	177					1.59361e-14	2.28723e-14	0.827153	1	0
OR8A1	390275	broad.mit.edu	37	11	124440496	124440496	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:124440496G>T	ENST00000284287.3	+	1	604	c.532G>T	c.(532-534)Ggc>Tgc	p.G178C		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G178C(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		AATAGAAACTGGCCTCATGTT	0.493000													11	93					2.27111e-07	2.70904e-07	0.411799	1	0
MRS2	57380	broad.mit.edu	37	6	24403396	24403396	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:24403396G>C	ENST00000378386.3	+	1	215	c.122G>C	c.(121-123)cGc>cCc	p.R41P	MRS2_ENST00000274747.7_Missense_Mutation_p.R41P|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.R41P|MRS2_ENST00000535061.1_Missense_Mutation_p.R41P|MRS2_ENST00000378353.1_Missense_Mutation_p.R41P|MRS2_ENST00000483634.1_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	41					ion transport	integral to membrane|mitochondrial inner membrane		p.R41P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GCCTGCGGCCGCCGAGCCAAC	0.711000													4	9					0	0	0.387290	0	0
MPPED2	744	broad.mit.edu	37	11	30439175	30439175	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:30439175G>T	ENST00000448418.2	-	5	902	c.542C>A	c.(541-543)cCg>cAg	p.P181Q	MPPED2_ENST00000358117.5_Missense_Mutation_p.P181Q|MPPED2_ENST00000524667.1_5'UTR	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	181					nervous system development		hydrolase activity|metal ion binding	p.P181Q(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATTAAACCACGGGGTCCTTTG	0.527000													21	39					2.44723e-14	3.49354e-14	0.681144	1	0
LAMA4	3910	broad.mit.edu	37	6	112493878	112493878	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:112493878G>T	ENST00000230538.7	-	12	1883	c.1486C>A	c.(1486-1488)Ctt>Att	p.L496I	LAMA4_ENST00000389463.4_Missense_Mutation_p.L489I|LAMA4_ENST00000424408.2_Missense_Mutation_p.L489I|LAMA4_ENST00000522006.1_Missense_Mutation_p.L489I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	496	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.L489I(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACATAGTTAAGGGCCTGGTCA	0.542000													16	118					1.5739e-10	2.05224e-10	0.500413	1	0
RNF185	91445	broad.mit.edu	37	22	31597539	31597539	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr22:31597539G>T	ENST00000326132.5	+	6	578	c.419G>T	c.(418-420)gGg>gTg	p.G140V	RNF185_ENST00000266252.7_Missense_Mutation_p.G84V|RNF185_ENST00000426256.2_Missense_Mutation_p.G78V	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	140						integral to membrane	zinc ion binding	p.G140V(1)		NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TTTGGAATTGGGGCATTTCCC	0.438000													122	154					8.88823e-52	1.72156e-51	0.870114	1	0
OR8J3	81168	broad.mit.edu	37	11	55904311	55904311	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:55904311T>C	ENST00000301529.1	-	1	883	c.884A>G	c.(883-885)aAt>aGt	p.N295S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N295S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATTTACATCATTATTCCTCAG	0.353000													28	130					0	0	0.729181	0	0
SHC3	53358	broad.mit.edu	37	9	91653014	91653014	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:91653014C>A	ENST00000375835.4	-	11	1856	c.1550G>T	c.(1549-1551)gGa>gTa	p.G517V	SHC3_ENST00000375830.1_Missense_Mutation_p.G65V|SHC3_ENST00000375831.1_Missense_Mutation_p.G65V	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	517	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	p.G517V(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CAGGAAGTCTCCGTCTTTCTC	0.597000													55	245					2.12129e-23	3.50473e-23	0.870114	1	0
CYP11B1	1584	broad.mit.edu	37	8	143960517	143960517	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:143960517T>C	ENST00000292427.4	-	2	358	c.326A>G	c.(325-327)cAc>cGc	p.H109R	CYP11B1_ENST00000377675.3_Missense_Mutation_p.H154R|CYP11B1_ENST00000517471.1_Missense_Mutation_p.H109R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	109					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCTCATCCTGTGGGGATGCAG	0.617000									Familial Hyperaldosteronism type I				4	43					0	0	0.760397	0	0
CSMD3	114788	broad.mit.edu	37	8	113871477	113871477	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:113871477T>G	ENST00000297405.5	-	11	1896	c.1652A>C	c.(1651-1653)aAt>aCt	p.N551T	CSMD3_ENST00000343508.3_Missense_Mutation_p.N511T|CSMD3_ENST00000352409.3_Missense_Mutation_p.N551T|CSMD3_ENST00000455883.2_Missense_Mutation_p.N447T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	551	CUB 3.					integral to membrane|plasma membrane		p.N551T(1)|p.N511T(1)		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						TCCTTGAAGATTAGAGCCACA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	169					0	0	0.539581	0	0
DCLK3	85443	broad.mit.edu	37	3	36779850	36779850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:36779850C>A	ENST00000416516.2	-	2	791	c.301G>T	c.(301-303)Gag>Tag	p.E101*		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	101						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.E101*(1)		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						GGTTCTGGCTCCCATTTCCCC	0.592000													61	181					7.92265e-33	1.42074e-32	0.870114	1	0
KCNK13	56659	broad.mit.edu	37	14	90650778	90650778	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:90650778G>A	ENST00000282146.4	+	2	1099	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	220						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.E220K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CACCCCCATTGAAGGCTGGAG	0.557000													13	210					0	0	0.411799	0	0
NCAN	1463	broad.mit.edu	37	19	19334879	19334879	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:19334879C>G	ENST00000252575.5	+	4	568	c.525C>G	c.(523-525)ttC>ttG	p.F175L		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	175	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.F175L(1)|p.F189L(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CACTGACCTTCGCTGAGGCCC	0.577000													28	48					0	0	0.706142	0	0
IRS2	8660	broad.mit.edu	37	13	110434665	110434665	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:110434665C>A	ENST00000375856.3	-	1	4250	c.3736G>T	c.(3736-3738)Ggc>Tgc	p.G1246C		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1246					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	p.G1246C(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TTCTGGAAGCCGGCAGAGGTC	0.716000													8	7					5.50884e-06	6.17423e-06	0.411799	1	0
EPHB1	2047	broad.mit.edu	37	3	134920428	134920428	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:134920428G>A	ENST00000398015.3	+	12	2613	c.2243G>A	c.(2242-2244)aGg>aAg	p.R748K	EPHB1_ENST00000493838.1_Missense_Mutation_p.R309K	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	748	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R748K(2)		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						CTGGCTGCTAGGAACATTCTG	0.557000													40	193					0	0	0.827153	0	0
NELL2	4753	broad.mit.edu	37	12	45001031	45001031	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:45001031G>T	ENST00000429094.2	-	15	2088	c.1584C>A	c.(1582-1584)ggC>ggA	p.G528G	NELL2_ENST00000551601.1_Silent_p.G527G|NELL2_ENST00000549027.1_Silent_p.G527G|NELL2_ENST00000452445.2_Silent_p.G528G|NELL2_ENST00000333837.4_Silent_p.G551G|NELL2_ENST00000437801.2_Silent_p.G578G|NELL2_ENST00000395487.2_Silent_p.G527G	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	528	EGF-like 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.G578G(1)|p.G528G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CATTCCTACAGCCATCTTTGC	0.398000													19	54					3.32936e-07	3.93604e-07	0.539581	1	0
TRPM1	4308	broad.mit.edu	37	15	31320613	31320613	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:31320613C>A	ENST00000542188.1	-	24	3579	c.3266G>T	c.(3265-3267)tGg>tTg	p.W1089L	RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.W1050L|TRPM1_ENST00000256552.6_Missense_Mutation_p.W1072L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1050					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.W1050L(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGGAGTGAGCCAGGCGCCGGG	0.512000													37	69					4.90274e-10	6.29001e-10	0.819951	1	0
COL27A1	85301	broad.mit.edu	37	9	116968563	116968563	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:116968563C>T	ENST00000356083.3	+	10	2646	c.2255C>T	c.(2254-2256)cCc>cTc	p.P752L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	752	Collagen-like 3.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P752L(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GATCCCGGCCCCAAAGGCAGC	0.592000													7	39					0	0	0.278610	0	0
APOB	338	broad.mit.edu	37	2	21234718	21234718	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:21234718C>G	ENST00000233242.1	-	26	5149	c.5022G>C	c.(5020-5022)gaG>gaC	p.E1674D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1674					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.E1674D(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGAGGCCAAGCTCTGCATTCA	0.493000													16	67					0	0	0.479597	0	0
PLK1	5347	broad.mit.edu	37	16	23695377	23695377	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:23695377A>T	ENST00000300093.4	+	5	1114	c.1003A>T	c.(1003-1005)Agc>Tgc	p.S335C		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	335					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	p.S335C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCTGGACCCCAGCAACCGGAA	0.557000													25	171					0	0	0.681144	0	0
HOXA5	3202	broad.mit.edu	37	7	27181683	27181683	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:27181683C>A	ENST00000222726.3	-	2	644	c.584G>T	c.(583-585)gGc>gTc	p.G195V	HOXA5_ENST00000520854.1_5'UTR|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	195					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G195V(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GGCCCTTTTGCCTTCCGGGCC	0.562000											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	26					1.85244e-09	2.3539e-09	0.654019	1	0
BBS9	27241	broad.mit.edu	37	7	33423310	33423310	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:33423310G>C	ENST00000242067.6	+	18	2343	c.1822G>C	c.(1822-1824)Gat>Cat	p.D608H	BBS9_ENST00000396127.2_Missense_Mutation_p.D573H|BBS9_ENST00000355070.2_Missense_Mutation_p.D603H|BBS9_ENST00000354265.4_Missense_Mutation_p.D573H|BBS9_ENST00000350941.3_Missense_Mutation_p.D568H	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	608					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.D608H(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ACAATTTGAAGATCTTTGGCT	0.333000									Bardet-Biedl syndrome				12	43					0	0	0.411799	0	0
OR6C76	390326	broad.mit.edu	37	12	55820133	55820133	+	Silent	SNP	G	G	T	rs143110732	by1000genomes	TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:55820133G>T	ENST00000328314.3	+	1	96	c.96G>T	c.(94-96)acG>acT	p.T32T		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T32T(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATTTCTTACGTATGTACTGA	0.423000													69	196					3.07281e-33	5.54775e-33	0.870114	1	0
DPP6	1804	broad.mit.edu	37	7	154598762	154598762	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:154598762T>A	ENST00000404039.1	+	16	2001	c.1414T>A	c.(1414-1416)Tgc>Agc	p.C472S	DPP6_ENST00000377770.3_Missense_Mutation_p.C536S|DPP6_ENST00000427557.1_Missense_Mutation_p.C429S|DPP6_ENST00000332007.3_Missense_Mutation_p.C474S	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	536					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.C472S(1)|p.C474S(1)|p.C536S(1)		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)			GGTTGAGAACTGCACCTACTT	0.582000													49	91					0	0	0.870114	0	0
TMEFF1	8577	broad.mit.edu	37	9	103338820	103338820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:103338820G>T	ENST00000374879.4	+	10	1513	c.1081G>T	c.(1081-1083)Gga>Tga	p.G361*	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.R324M|TMEFF1_ENST00000334943.6_Nonsense_Mutation_p.G322*	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1									p.G361*(1)		NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				AAACAATAGAGGACGTCGACA	0.328000													15	132					6.72482e-11	8.81184e-11	0.479597	1	0
GRK7	131890	broad.mit.edu	37	3	141497180	141497180	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:141497180G>T	ENST00000264952.2	+	1	191	c.54G>T	c.(52-54)caG>caT	p.Q18H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	18					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.Q18H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTACCTGCAGGCCCGGAAGC	0.701000													25	57					1.36615e-20	2.14603e-20	0.769981	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342471	60342471	+	RNA	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:60342471G>T	ENST00000581291.1	-	0	1682																				breast(2)|kidney(1)|lung(2)	5						CCCTAGCTCTGAAGGGGGTGC	0.607000													11	99					2.61681e-11	3.48617e-11	0.457914	1	0
KIF7	374654	broad.mit.edu	37	15	90177050	90177050	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:90177050C>T	ENST00000394412.3	-	12	2535	c.2459G>A	c.(2458-2460)cGa>cAa	p.R820Q		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	820					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	p.R307Q(1)|p.R820Q(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCCTGCAGTCGCTTCTCACT	0.652000													12	29					0	0	0.387290	0	0
GMPS	8833	broad.mit.edu	37	3	155655474	155655474	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:155655474G>T	ENST00000496455.1	+	16	2410	c.2075G>T	c.(2074-2076)tGg>tTg	p.W692L	GMPS_ENST00000295920.7_Missense_Mutation_p.W593L	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	692					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.W692L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTACTGAGTGGGAGTAATAA	0.348000			T	MLL	AML								35	59					1.49673e-21	2.39357e-21	0.819951	1	0
FAM71B	153745	broad.mit.edu	37	5	156589540	156589540	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:156589540C>T	ENST00000302938.4	-	2	1831	c.1736G>A	c.(1735-1737)gGt>gAt	p.G579D		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	579						nucleus		p.G579D(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCTGGCCACCCTGGGCTTT	0.483000													91	412					0	0	0.870114	0	0
NPAS3	64067	broad.mit.edu	37	14	33684503	33684503	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:33684503A>T	ENST00000346562.2	+	2	240	c.166A>T	c.(166-168)Agc>Tgc	p.S56C	NPAS3_ENST00000357798.5_Missense_Mutation_p.S56C|NPAS3_ENST00000356141.4_Missense_Mutation_p.S86C|NPAS3_ENST00000341321.4_Missense_Mutation_p.S86C|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551492.1_Missense_Mutation_p.S93C|NPAS3_ENST00000548645.1_Missense_Mutation_p.S56C|NPAS3_ENST00000551008.1_5'UTR	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.S56C(2)|p.S86C(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGCCATTACCAGCCAGCTCGA	0.498000													42	83					0	0	0.870114	0	0
OR4A15	81328	broad.mit.edu	37	11	55135609	55135609	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:55135609G>T	ENST00000314706.3	+	1	250	c.250G>T	c.(250-252)Ggt>Tgt	p.G84C		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G84C(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCAGTCCCTGGGTTCCCCCAT	0.423000													61	133					8.27458e-37	1.53204e-36	0.870114	1	0
MAP1A	4130	broad.mit.edu	37	15	43820739	43820739	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:43820739T>A	ENST00000382031.1	+	5	7813	c.7782T>A	c.(7780-7782)gaT>gaA	p.D2594E	MAP1A_ENST00000399453.1_Missense_Mutation_p.D2356E|MAP1A_ENST00000300231.5_Missense_Mutation_p.D2356E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2356						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.D2356E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCTCTGAGGATTGTGCAGCCA	0.632000													3	12					0	0	0.184627	0	0
TIE1	7075	broad.mit.edu	37	1	43773124	43773124	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:43773124G>A	ENST00000372476.3	+	6	873	c.794G>A	c.(793-795)gGg>gAg	p.G265E	TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000538015.1_Missense_Mutation_p.G265E|TIE1_ENST00000441333.2_Missense_Mutation_p.G265E	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	265	EGF-like 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.G265E(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCGTTTTGGGCAGAGCTGC	0.637000													12	47					0	0	0.411799	0	0
PRSS41	360226	broad.mit.edu	37	16	2854924	2854924	+	RNA	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:2854924G>T	ENST00000399677.1	+	0	748							Q7RTY9	PRS41_HUMAN	protease, serine, 41						proteolysis	anchored to membrane|plasma membrane	serine-type endopeptidase activity										GGGTGACTCAGGTGGACCCTT	0.622000													5	4					1.23904e-05	1.37902e-05	0.184627	1	0
CLCA1	1179	broad.mit.edu	37	1	86934763	86934763	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:86934763G>T	ENST00000234701.3	+	2	460	c.109G>T	c.(109-111)Gtt>Ttt	p.V37F	CLCA1_ENST00000394711.1_Missense_Mutation_p.V37F			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	37					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.V37F(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AGGCATTGTCGTTGCAATCGA	0.363000													20	138					8.34094e-07	9.66047e-07	0.575678	1	0
TAS2R30	259293	broad.mit.edu	37	12	11286554	11286554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:11286554C>T	ENST00000539585.1	-	1	689	c.290G>A	c.(289-291)tGg>tAg	p.W97*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30									p.W97*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGTAGCAAGCCAGCTGCTGAA	0.393000													64	82					0	0	0.870114	0	0
NPAP1	23742	broad.mit.edu	37	15	24921181	24921181	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:24921181G>T	ENST00000329468.2	+	1	641	c.167G>T	c.(166-168)cGt>cTt	p.R56L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.R56L(1)									CGGAACGCCCGTCGCAGGCCT	0.751000													9	12					1.58986e-06	1.81764e-06	0.361761	1	0
MEF2C	4208	broad.mit.edu	37	5	88100465	88100465	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:88100465T>G	ENST00000504921.2	-	3	880	c.208A>C	c.(208-210)Acg>Ccg	p.T70P	MEF2C_ENST00000539796.1_Missense_Mutation_p.T70P|MEF2C_ENST00000514015.1_Missense_Mutation_p.T70P|MEF2C_ENST00000424173.2_Missense_Mutation_p.T70P|MEF2C_ENST00000514028.1_Missense_Mutation_p.T70P|MEF2C_ENST00000340208.5_Missense_Mutation_p.T70P|MEF2C_ENST00000437473.2_Missense_Mutation_p.T70P|MEF2C_ENST00000506554.1_Missense_Mutation_p.T70P|MEF2C_ENST00000510942.1_Missense_Mutation_p.T70P|MEF2C_ENST00000508569.1_Missense_Mutation_p.T70P			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	70					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.T70P(3)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTGTACTCCGTGTACTTGAGA	0.547000										HNSCC(66;0.2)			10	32					0	0	0.411799	0	0
DOCK4	9732	broad.mit.edu	37	7	111398842	111398842	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:111398842C>A	ENST00000428084.1	-	41	4439	c.4167G>T	c.(4165-4167)ttG>ttT	p.L1389F	DOCK4_ENST00000494651.2_Missense_Mutation_p.L263F|DOCK4_ENST00000437633.1_Missense_Mutation_p.L1380F			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1380	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.L1380F(1)|p.L1377F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CATATATCTGCAAATCTAGGA	0.478000													8	41					0.000274275	0.000291829	0.307466	1	0
CTHRC1	115908	broad.mit.edu	37	8	104388028	104388028	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:104388028C>T	ENST00000330295.5	+	2	355	c.213C>T	c.(211-213)gcC>gcT	p.A71A	CTHRC1_ENST00000520337.1_Silent_p.A57A|CTHRC1_ENST00000415886.2_Silent_p.A71A	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	71	Collagen-like.					collagen		p.A71A(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GCCCTGGGGCCAATGGCATTC	0.522000													69	302					0	0	0.870114	0	0
MIR516B1	574490	broad.mit.edu	37	19	54240145	54240145	+	RNA	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:54240145G>C	ENST00000385211.1	+	0	47					NR_030212.1																						TCTGTTTTGTGAAAGAAAAGA	0.413000													42	80					0	0	0.864702	0	0
FOXP4	116113	broad.mit.edu	37	6	41556419	41556419	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:41556419A>G	ENST00000373060.1	+	9	1473	c.1015A>G	c.(1015-1017)Aca>Gca	p.T339A	FOXP4_ENST00000307972.4_Missense_Mutation_p.T339A|FOXP4_ENST00000373063.3_Missense_Mutation_p.T338A|FOXP4_ENST00000373057.3_Missense_Mutation_p.T337A|FOXP4_ENST00000409208.1_Missense_Mutation_p.T339A	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	339					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.T339A(1)|p.T338A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGACCGGAGTACAGCCCAGTG	0.627000													60	94					0	0	0.870114	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374332	95374332	+	RNA	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:95374332G>T	ENST00000494840.1	-	0	1529					NR_077228.1																						ACACCCCATGGGGTAGCCGGT	0.438000													31	81					2.09667e-21	3.34628e-21	0.788014	1	0
SMARCD1	6602	broad.mit.edu	37	12	50490683	50490683	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:50490683C>T	ENST00000394963.4	+	11	1718	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	SMARCD1_ENST00000548573.1_Silent_p.F238F|SMARCD1_ENST00000381513.4_Intron	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	440	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	p.F401F(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						AGCGGGAGTTCATGCTGAGCT	0.468000													28	63					0	0	0.729181	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280957	105280957	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:105280957A>T	ENST00000327674.4	-	1	428	c.93T>A	c.(91-93)caT>caA	p.H31Q	SERPINA7_ENST00000372563.1_Missense_Mutation_p.H31Q			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	31				CH -> DS (in Ref. 7; AA sequence).	regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.H31Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTTGGGATGAATGGCAGGCTG	0.458000													78	161					0	0	0.870114	0	0
TIAM2	26230	broad.mit.edu	37	6	155532366	155532366	+	Silent	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:155532366A>T	ENST00000461783.3	+	17	4366	c.3093A>T	c.(3091-3093)acA>acT	p.T1031T	TIAM2_ENST00000456144.1_Silent_p.T1031T|TIAM2_ENST00000360366.4_Silent_p.T1055T|TIAM2_ENST00000456877.2_Silent_p.T343T|TIAM2_ENST00000318981.5_Silent_p.T1031T|TIAM2_ENST00000528391.2_Silent_p.T367T|TIAM2_ENST00000529824.2_Silent_p.T1031T|TIAM2_ENST00000367174.2_Silent_p.T407T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1031					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.T1031T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATATCACAACAGGTCTGAAAA	0.428000													8	53					0	0	0.307466	0	0
PXDN	7837	broad.mit.edu	37	2	1691403	1691403	+	Splice_Site	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:1691403C>A	ENST00000252804.4	-	4	467		c.e4+1			NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)						extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.?(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGGGCACTTACAGTTGCTCTA	0.463000													10	11					6.40141e-05	6.94066e-05	0.387290	1	0
TMTC1	83857	broad.mit.edu	37	12	29736464	29736464	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:29736464A>T	ENST00000256062.5	-	8	1443	c.970T>A	c.(970-972)Tgc>Agc	p.C324S	TMTC1_ENST00000381224.2_Missense_Mutation_p.C386S|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.C494S|TMTC1_ENST00000552618.1_Missense_Mutation_p.C494S|TMTC1_ENST00000539277.1_Missense_Mutation_p.C432S	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	432						integral to membrane	binding	p.C324S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGCCAAGTGCAGAGCTTGCTC	0.498000													26	42					0	0	0.681144	0	0
OR5H15	403274	broad.mit.edu	37	3	97887954	97887954	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:97887954C>A	ENST00000356526.2	+	1	411	c.411C>A	c.(409-411)acC>acA	p.T137T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T137T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCATTATGACCAATGGACTGT	0.378000													16	148					1.75199e-13	2.45709e-13	0.717897	1	0
ZNF638	27332	broad.mit.edu	37	2	71650950	71650950	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:71650950G>A	ENST00000409544.1	+	22	4936	c.4306G>A	c.(4306-4308)Gaa>Aaa	p.E1436K	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000409407.1_Missense_Mutation_p.E376K|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1436K	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1436					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.E1436K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TTCAGCCAAGGAATTTGGTCT	0.418000													5	75					0	0	0.184627	0	0
GCAT	23464	broad.mit.edu	37	22	38211173	38211173	+	Missense_Mutation	SNP	C	C	T	rs142152598		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr22:38211173C>T	ENST00000323205.6	+	5	758	c.695C>T	c.(694-696)tCc>tTc	p.S232F	GCAT_ENST00000248924.6_Missense_Mutation_p.S206F	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	206					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.S206F(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGGGCCTTTTCCATGGATGGC	0.587000													5	48					0	0	0.335167	0	0
SLC12A9	56996	broad.mit.edu	37	7	100460369	100460369	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:100460369A>G	ENST00000354161.3	+	13	1903	c.1778A>G	c.(1777-1779)cAg>cGg	p.Q593R	SLC12A9_ENST00000275729.3_Missense_Mutation_p.Q504R|SLC12A9_ENST00000540482.1_Missense_Mutation_p.Q593R|SLC12A9_ENST00000415287.1_Missense_Mutation_p.Q504R|SLC12A9_ENST00000428758.1_Missense_Mutation_p.Q593R	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	593						integral to membrane|plasma membrane	cation:chloride symporter activity	p.Q593R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACCGTGCCCAGGTGAAGGCT	0.607000													59	105					0	0	0.870114	0	0
C2orf76	130355	broad.mit.edu	37	2	120069237	120069237	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:120069237G>A	ENST00000409466.2	-	6	786	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	C2orf76_ENST00000409523.1_Silent_p.L89L|C2orf76_ENST00000334816.7_Silent_p.L89L|C2orf76_ENST00000409877.1_Silent_p.L89L			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	89								p.L89L(1)		large_intestine(1)|lung(3)|pancreas(1)	5						TCTTTCAGCAGGAGTCTTTCG	0.463000													11	185					0	0	0.435327	0	0
MSGN1	343930	broad.mit.edu	37	2	17998016	17998016	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:17998016G>T	ENST00000281047.3	+	1	254	c.231G>T	c.(229-231)ggG>ggT	p.G77G		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	77					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G77G(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCAGCAGTGGGGGCAGCGAAG	0.637000													13	70					2.32078e-09	2.94433e-09	0.479597	1	0
ELAVL2	1993	broad.mit.edu	37	9	23692846	23692846	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:23692846C>A	ENST00000397312.2	-	7	1063	c.789G>T	c.(787-789)ttG>ttT	p.L263F	ELAVL2_ENST00000223951.6_Missense_Mutation_p.L250F|ELAVL2_ENST00000544538.1_Missense_Mutation_p.L263F|ELAVL2_ENST00000380117.1_Missense_Mutation_p.L263F|ELAVL2_ENST00000380110.4_Missense_Mutation_p.L293F	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	263					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.L263F(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TAATTCCAGCCAAACTGGTCA	0.428000													26	73					1.42536e-11	1.91487e-11	0.681144	1	0
SLC22A16	85413	broad.mit.edu	37	6	110763979	110763979	+	Splice_Site	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:110763979C>A	ENST00000368919.3	-	4	718		c.e4-1		SLC22A16_ENST00000439654.1_Splice_Site|SLC22A16_ENST00000330550.4_Splice_Site|SLC22A16_ENST00000456137.2_Splice_Site	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16						acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.?(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CACTTGCAACCTGAAAAACAA	0.388000													36	64					5.78141e-17	8.67212e-17	0.864702	1	0
C5orf28	64417	broad.mit.edu	37	5	43446488	43446488	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:43446488G>A	ENST00000500337.2	-	5	815	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C|C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	162						integral to membrane		p.R162C(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAACCATGACGAATCCCATCT	0.388000													17	131					0	0	0.500413	0	0
ASTN2	23245	broad.mit.edu	37	9	119976664	119976664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:119976664C>A	ENST00000313400.4	-	3	1088	c.988G>T	c.(988-990)Gaa>Taa	p.E330*	ASTN2_ENST00000361209.2_Nonsense_Mutation_p.E330*|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.E330*|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	330						integral to membrane		p.E330*(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCTTCTCTTCCCCTGGATGT	0.572000													25	164					9.39395e-14	1.32445e-13	0.706142	1	0
OR1J4	26219	broad.mit.edu	37	9	125281954	125281954	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:125281954T>A	ENST00000340750.1	+	1	535	c.535T>A	c.(535-537)Tgt>Agt	p.C179S		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C179S(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCATTTCTTCTGTGATCTTGT	0.507000													24	92					0	0	0.654019	0	0
SHROOM4	57477	broad.mit.edu	37	X	50350458	50350458	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:50350458C>T	ENST00000376020.2	-	6	3709	c.3684G>A	c.(3682-3684)gaG>gaA	p.E1228E	SHROOM4_ENST00000460112.3_Silent_p.E1112E|SHROOM4_ENST00000289292.7_Silent_p.E1228E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1228	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1228E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTGAGCCTGCTCAGGTTGAG	0.502000													23	50					0	0	0.654019	0	0
MUC5B	727897	broad.mit.edu	37	11	1262982	1262982	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:1262982C>A	ENST00000447027.1	+	31	4939	c.4881C>A	c.(4879-4881)acC>acA	p.T1627T	MUC5B_ENST00000529681.1_Silent_p.T1624T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1624	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T1627T(1)|p.T1624T(1)		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)		CCACCACCACCCAGGCCCTGT	0.677000													6	7					0.000442599	0.000469673	0.335167	1	0
CXorf36	79742	broad.mit.edu	37	X	45013320	45013320	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:45013320C>T	ENST00000398000.2	-	4	870	c.796G>A	c.(796-798)Gac>Aac	p.D266N	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	266						extracellular region		p.D266N(1)		endometrium(1)|large_intestine(2)|lung(4)	7						TAGGCAAGGTCGGCTGCCTGA	0.562000													16	94					0	0	0.520397	0	0
TRPV5	56302	broad.mit.edu	37	7	142627249	142627249	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:142627249T>C	ENST00000265310.1	-	3	601	c.253A>G	c.(253-255)Ata>Gta	p.I85V	TRPV5_ENST00000442623.1_Missense_Mutation_p.I85V	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	85					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.I85V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGGGCTGCTATGTGCAGCGCC	0.567000													9	107					0	0	0.361761	0	0
POMZP3	22932	broad.mit.edu	37	7	76247599	76247599	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:76247599G>A	ENST00000310842.4	-	4	930	c.246C>T	c.(244-246)ctC>ctT	p.L82L	AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron|UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Silent_p.L82L	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	82								p.L82L(2)		kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGGCATCAGTGAGACCGTCGA	0.532000													12	186					0	0	0.639603	0	0
GPR158	57512	broad.mit.edu	37	10	25887278	25887278	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:25887278G>T	ENST00000376351.3	+	11	3082	c.2723G>T	c.(2722-2724)aGc>aTc	p.S908I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	908						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S908I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GTCATAGCAAGCGCCAAGGAG	0.478000													50	205					8.44121e-28	1.46437e-27	0.870114	1	0
OR5M8	219484	broad.mit.edu	37	11	56258337	56258337	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:56258337G>T	ENST00000327216.2	-	1	534	c.510C>A	c.(508-510)ccC>ccA	p.P170P		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P170P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TAATTTCATTGGGGCCACAGA	0.498000													18	99					2.35188e-11	3.14372e-11	0.539581	1	0
HAX1	10456	broad.mit.edu	37	1	154245987	154245987	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:154245987G>A	ENST00000328703.7	+	2	442	c.229G>A	c.(229-231)Gat>Aat	p.D77N	HAX1_ENST00000457918.2_Missense_Mutation_p.D29N|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_Missense_Mutation_p.D77N	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	77						actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	p.D77N(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACGTTTCCACGATAACTTCGG	0.547000									Kostmann syndrome				7	83					0	0	0.278610	0	0
KCNH5	27133	broad.mit.edu	37	14	63246455	63246455	+	Silent	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:63246455C>G	ENST00000322893.7	-	10	2278	c.2010G>C	c.(2008-2010)ctG>ctC	p.L670L	KCNH5_ENST00000394968.1_Silent_p.L612L|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	670					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.L670L(2)|p.L612L(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCCGTTTCCTCAGATTGCAAG	0.393000													19	139					0	0	0.575678	0	0
SUN1	23353	broad.mit.edu	37	7	888109	888109	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:888109C>T	ENST00000456758.2	+	9	887	c.887C>T	c.(886-888)tCa>tTa	p.S296L	SUN1_ENST00000389574.3_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACACTGCATCATCTTTTTCA	0.338000													63	184					0	0	0.870114	0	0
ABCA9	10350	broad.mit.edu	37	17	66982438	66982438	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:66982438C>T	ENST00000340001.4	-	32	4286	c.4075G>A	c.(4075-4077)Gaa>Aaa	p.E1359K	ABCA9_ENST00000370732.2_Missense_Mutation_p.E1359K|ABCA9_ENST00000453985.2_Missense_Mutation_p.E1321K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1359	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.E1359K(1)		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)					CCCAGGGGTTCCCCTCCACCG	0.507000													12	83					0	0	0.435327	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42861483	42861483	+	Silent	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr21:42861483C>G	ENST00000398585.3	-	4	447	c.387G>C	c.(385-387)ggG>ggC	p.G129G	TMPRSS2_ENST00000332149.5_Silent_p.G92G|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Silent_p.G92G	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	92	LDL-receptor class A.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	p.G92G(2)|p.G129G(1)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CGAGGAAGGTCCCCAGGGTCA	0.557000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								23	32					0	0	0.624587	0	0
MUC16	94025	broad.mit.edu	37	19	9046284	9046284	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:9046284T>A	ENST00000397910.4	-	5	35550	c.35347A>T	c.(35347-35349)Agt>Tgt	p.S11783C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11785	Thr-rich.			G -> E (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S11783C(1)|p.S7416C(1)		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						AATGTTTTACTTGTCTCTGTT	0.488000													20	81					0	0	0.592651	0	0
SPAG6	9576	broad.mit.edu	37	10	22700044	22700044	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:22700044G>A	ENST00000376603.2	+	10	1769	c.1627G>A	c.(1627-1629)Ggt>Agt	p.G543S	SPAG6_ENST00000538630.1_Missense_Mutation_p.G442S|SPAG6_ENST00000376601.1_Missense_Mutation_p.G228S|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376624.3_Missense_Mutation_p.G467S|SPAG6_ENST00000313311.6_Intron			O75602	SPAG6_HUMAN	sperm associated antigen 6	467					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	p.G467I(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AGCAGAACCTGGTTCTCTCCT	0.408000													24	78					0	0	0.639603	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580418	140580418	+	Silent	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:140580418A>T	ENST00000354757.3	+	1	1071	c.1071A>T	c.(1069-1071)ccA>ccT	p.P357P	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		357	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P357P(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCAATCCCAGAAAATACGC	0.418000													25	127					0	0	0.654019	0	0
WDR7	23335	broad.mit.edu	37	18	54694412	54694412	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr18:54694412G>T	ENST00000254442.3	+	28	4658	c.4447G>T	c.(4447-4449)Ggg>Tgg	p.G1483W	WDR7_ENST00000589935.1_Missense_Mutation_p.G60W|WDR7_ENST00000357574.3_Missense_Mutation_p.G1450W	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1483								p.G1483W(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGCCCATGACGGGAAGGAGCA	0.597000													11	4					0.00010058	0.00010861	0.411799	1	0
HS3ST2	9956	broad.mit.edu	37	16	22926287	22926287	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:22926287G>C	ENST00000261374.3	+	2	942	c.508G>C	c.(508-510)Gag>Cag	p.E170Q		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	170						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	p.E170Q(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CAGGACCCTCGAGAGCCAGAT	0.572000													19	137					0	0	0.575678	0	0
TRIM50	135892	broad.mit.edu	37	7	72727232	72727232	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:72727232G>A	ENST00000333149.2	-	7	1349	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	TRIM50_ENST00000453152.1_Silent_p.G383G	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	383	B30.2/SPRY.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	p.G383G(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TCAGCCACACGCCGTGCTCGG	0.697000													6	3					0	0	0.248553	0	0
SF1	7536	broad.mit.edu	37	11	64536732	64536732	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:64536732C>T	ENST00000377390.3	-	7	1079	c.742G>A	c.(742-744)Gct>Act	p.A248T	SF1_ENST00000489544.1_5'UTR|SF1_ENST00000433274.2_Missense_Mutation_p.A222T|SF1_ENST00000422298.2_Missense_Mutation_p.A133T|SF1_ENST00000377387.1_Missense_Mutation_p.A373T|SF1_ENST00000377394.3_Missense_Mutation_p.A248T|SF1_ENST00000334944.5_Missense_Mutation_p.A248T|SF1_ENST00000227503.9_Missense_Mutation_p.A248T	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	248					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	p.A248T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TTTAAGCGAGCCAACTCCCGA	0.458000													21	90					0	0	0.624587	0	0
ANO5	203859	broad.mit.edu	37	11	22296152	22296152	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:22296152G>T	ENST00000324559.8	+	20	2590	c.2273G>T	c.(2272-2274)cGt>cTt	p.R758L	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	758			R -> C (in MMD3).			chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.R758L(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCATTCCCCGTCTAGTTTAC	0.363000													88	152					1.45855e-51	2.81821e-51	0.870114	1	0
CHAT	1103	broad.mit.edu	37	10	50827905	50827905	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:50827905C>A	ENST00000395562.2	+	4	745	c.276C>A	c.(274-276)ggC>ggA	p.G92G	CHAT_ENST00000455728.2_Silent_p.G56G|CHAT_ENST00000351556.3_Silent_p.G56G|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Silent_p.G56G|CHAT_ENST00000339797.1_Silent_p.G56G|CHAT_ENST00000337653.2_Silent_p.G174G	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	174					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.L175I(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCCCTGGTGGCCTCGGCGAGA	0.617000													7	10					1.08611e-07	1.30924e-07	0.387290	1	0
SYT10	341359	broad.mit.edu	37	12	33529782	33529782	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:33529782G>T	ENST00000228567.3	-	7	1851	c.1555C>A	c.(1555-1557)Cca>Aca	p.P519T	SYT10_ENST00000535526.1_Missense_Mutation_p.P338T	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	519						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.P519T(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTGGAAGGTGGTTTAGGAGAA	0.408000													11	89					4.3838e-07	5.1521e-07	0.435327	1	0
USP39	10713	broad.mit.edu	37	2	85875930	85875930	+	Nonstop_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:85875930G>C	ENST00000323701.6	+	13	1707	c.1697G>C	c.(1696-1698)tGa>tCa	p.*566S	USP39_ENST00000450066.2_Nonstop_Mutation_p.*463S|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Nonstop_Mutation_p.*537S|USP39_ENST00000409766.3_3'UTR|USP39_ENST00000409470.1_Nonstop_Mutation_p.*566S	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	0					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.*566S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CAGGGGGCTTGAAGGAGGCGT	0.488000											OREG0014749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	230					0	0	0.870114	0	0
MAN1B1	11253	broad.mit.edu	37	9	140001223	140001223	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:140001223G>T	ENST00000371589.4	+	10	1601	c.1528G>T	c.(1528-1530)Gtg>Ttg	p.V510L	MAN1B1_ENST00000474902.1_Missense_Mutation_p.V213L|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	510					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.V510L(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GCTCACCTTTGTGGGGGAGCT	0.632000													5	45					2.0095e-06	2.29083e-06	0.248553	1	0
ATP2A1	487	broad.mit.edu	37	16	28912103	28912103	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:28912103C>A	ENST00000395503.4	+	15	2150	c.1966C>A	c.(1966-1968)Cga>Aga	p.R656R	ATP2A1_ENST00000536376.1_Silent_p.R531R|ATP2A1_ENST00000357084.3_Silent_p.R656R	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	656					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.R656R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTACACGGGCCGAGAGTTCGA	0.627000													10	70					5.50884e-06	6.17423e-06	0.411799	1	0
MED12L	116931	broad.mit.edu	37	3	150840700	150840700	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:150840700C>A	ENST00000474524.1	+	3	373	c.335C>A	c.(334-336)gCa>gAa	p.A112E	MED12L_ENST00000309237.4_Missense_Mutation_p.A112E|MED12L_ENST00000422248.2_Missense_Mutation_p.A112E|MED12L_ENST00000273432.4_Missense_Mutation_p.A112E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	112					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.A112E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCCAGAGTGCAATTCATAGT	0.358000													11	48					1.58986e-06	1.81764e-06	0.361761	1	0
IL17F	112744	broad.mit.edu	37	6	52103574	52103574	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:52103574T>A	ENST00000336123.4	-	2	315	c.208A>T	c.(208-210)Atg>Ttg	p.M70L		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	70					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	p.M70L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TTACGTGACATGGAAACGCGC	0.443000													11	58					0	0	0.411799	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282454	71282454	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:71282454G>A	ENST00000335793.3	-	2	580	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CDC42EP4_ENST00000439510.2_Intron|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	62					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	p.G62G(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCAAGGACTCGCCGTCGGGCT	0.647000													11	62					0	0	0.479597	0	0
BIRC6	57448	broad.mit.edu	37	2	32626377	32626377	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:32626377G>A	ENST00000421745.2	+	7	1315	c.1181G>A	c.(1180-1182)gGg>gAg	p.G394E		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	394					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.G366E(1)|p.G394E(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTGGGTCGGGGAGCTGCCCT	0.438000													53	282					0	0	0.870114	0	0
CKB	1152	broad.mit.edu	37	14	103986586	103986586	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:103986586G>A	ENST00000348956.2	-	7	1197	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	280	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	p.I280I(1)		lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGCAGGTGAGGATGTAGCCCA	0.557000													7	59					0	0	0.307466	0	0
ST18	9705	broad.mit.edu	37	8	53126806	53126806	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:53126806C>T	ENST00000276480.7	-	7	695	c.12G>A	c.(10-12)gaG>gaA	p.E4E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	4						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E4E(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TATCTTCAGCCTCTGCATCCA	0.418000													74	95					0	0	0.870114	0	0
HCN3	57657	broad.mit.edu	37	1	155254545	155254545	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:155254545G>A	ENST00000368358.3	+	4	1094	c.1086G>A	c.(1084-1086)gaG>gaA	p.E362E	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	362						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.E362E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGTACCAGGAGAAGGTCAGCA	0.597000													16	39					0	0	0.557998	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485912	31485912	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:31485912C>T	ENST00000394863.3	+	7	678	c.548C>T	c.(547-549)cCg>cTg	p.P183L	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.P166L|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.P166L|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.P166L	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	183	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	p.P166L(1)|p.P183L(1)		lung(8)|upper_aerodigestive_tract(1)	9						ACTCAGCCACCGGTGGTGAGC	0.607000													12	41					0	0	0.539581	0	0
HAS2	3037	broad.mit.edu	37	8	122641153	122641153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:122641153G>T	ENST00000303924.4	-	2	965	c.428C>A	c.(427-429)tCa>tAa	p.S143*		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	143						integral to plasma membrane	hyaluronan synthase activity	p.S143*(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATAAGTGGCTGATTTGTCTCT	0.448000													11	583					0.000673444	0.000711799	0.361761	1	0
TNFRSF8	943	broad.mit.edu	37	1	12144556	12144556	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:12144556C>A	ENST00000263932.2	+	2	321	c.99C>A	c.(97-99)ccC>ccA	p.P33P	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	33					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGAAACCCCAGCCACTACT	0.587000													44	48					5.7616e-29	1.01272e-28	0.870114	1	0
DYSF	8291	broad.mit.edu	37	2	71801371	71801371	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:71801371C>A	ENST00000258104.3	+	30	3495	c.3218C>A	c.(3217-3219)tCt>tAt	p.S1073Y	DYSF_ENST00000409582.3_Missense_Mutation_p.S1090Y|DYSF_ENST00000394120.2_Missense_Mutation_p.S1074Y|DYSF_ENST00000409366.1_Missense_Mutation_p.S1074Y|DYSF_ENST00000410041.1_Missense_Mutation_p.S1091Y|DYSF_ENST00000410020.3_Missense_Mutation_p.S1091Y|DYSF_ENST00000429174.2_Missense_Mutation_p.S1073Y|DYSF_ENST00000409651.1_Missense_Mutation_p.S1105Y|DYSF_ENST00000413539.2_Missense_Mutation_p.S1104Y|DYSF_ENST00000409744.1_Missense_Mutation_p.S1060Y|DYSF_ENST00000409762.1_Missense_Mutation_p.S1090Y	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1073	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.S1091Y(1)|p.S1073Y(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGTACGCCTCTCTTTTTGGC	0.662000													13	87					1.3612e-06	1.56294e-06	0.479597	1	0
COL11A2	1302	broad.mit.edu	37	6	33144976	33144976	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:33144976G>A	ENST00000341947.2	-	24	2225	c.1998C>T	c.(1996-1998)atC>atT	p.I666I	COL11A2_ENST00000374714.1_Silent_p.I640I|COL11A2_ENST00000374712.1_Silent_p.I585I|COL11A2_ENST00000374713.1_Silent_p.I619I|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000395197.1_Silent_p.I606I|COL11A2_ENST00000361917.1_Silent_p.I559I|COL11A2_ENST00000357486.1_Silent_p.I645I|COL11A2_ENST00000374708.4_Silent_p.I580I	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	666	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.I666I(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CATGAGGGCCGATGGCACCCT	0.547000													48	75					0	0	0.870114	0	0
UNC13C	440279	broad.mit.edu	37	15	54919052	54919052	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:54919052G>T	ENST00000545554.1	+	32	6386	c.6386G>T	c.(6385-6387)gGg>gTg	p.G2129V	UNC13C_ENST00000260323.11_Missense_Mutation_p.G2129V|UNC13C_ENST00000537900.1_Missense_Mutation_p.G2127V|UNC13C_ENST00000539562.2_Missense_Mutation_p.G50V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2129	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G2129V(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATCGACCAGGGGCTTATGAA	0.378000													10	40					6.42651e-13	8.93442e-13	0.387290	1	0
HBG2	3048	broad.mit.edu	37	11	5274632	5274632	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:5274632G>T	ENST00000380259.2	-	8	1559	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	HBG2_ENST00000336906.4_Missense_Mutation_p.L107M|HBG2_ENST00000380252.1_Missense_Mutation_p.L97M					hemoglobin, gamma G									p.L107M(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATTTCCCAGGAGCTGTTGA	0.517000													32	65					1.30916e-28	2.29104e-28	0.870114	1	0
POLR2D	5433	broad.mit.edu	37	2	128608189	128608189	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:128608189C>T	ENST00000272645.4	-	3	381	c.325G>A	c.(325-327)Gag>Aag	p.E109K	POLR2D_ENST00000409698.1_Missense_Mutation_p.E71K|POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409955.1_Intron	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	109					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding	p.E109K(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		TTGGACTCCTCAGCAGTCTCT	0.383000													21	284					0	0	0.624587	0	0
KMT2A	4297	broad.mit.edu	37	11	118376994	118376994	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:118376994G>C	ENST00000534358.1	+	27	10410	c.10387G>C	c.(10387-10389)Gcc>Ccc	p.A3463P	KMT2A_ENST00000354520.4_Missense_Mutation_p.A3422P|KMT2A_ENST00000389506.5_Missense_Mutation_p.A3460P	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.A3460P(1)|p.A3463P(1)									CCAGCTCCTTGCCAGCAAAAC	0.527000													27	117					0	0	0.706142	0	0
EPB41L1	2036	broad.mit.edu	37	20	34776397	34776397	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:34776397C>G	ENST00000338074.2	+	9	1163	c.1002C>G	c.(1000-1002)ttC>ttG	p.F334L	EPB41L1_ENST00000373950.2_Missense_Mutation_p.F237L|EPB41L1_ENST00000373941.1_Missense_Mutation_p.F334L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.F272L|EPB41L1_ENST00000373946.3_Missense_Mutation_p.F303L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.F272L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	334	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.F334L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGAGTAACTTCTATATCAAGA	0.557000													9	54					0	0	0.307466	0	0
NEURL4	84461	broad.mit.edu	37	17	7226812	7226812	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:7226812C>A	ENST00000399464.2	-	14	2424	c.2409G>T	c.(2407-2409)tgG>tgT	p.W803C	NEURL4_ENST00000570460.1_Missense_Mutation_p.W781C|NEURL4_ENST00000315614.7_Missense_Mutation_p.W803C	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.W803F(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTCAGCATCCATGTGTCAT	0.572000													24	24					7.87624e-14	1.1144e-13	0.639603	1	0
MCRS1	10445	broad.mit.edu	37	12	49959936	49959936	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:49959936C>G	ENST00000550165.1	-	4	339	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	MCRS1_ENST00000357123.4_Missense_Mutation_p.E38Q|MCRS1_ENST00000343810.4_Missense_Mutation_p.E25Q|MCRS1_ENST00000546244.1_Intron			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	25	Ser-rich.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	p.E38Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						AGTGACTCCTCATCCTCTGAG	0.587000													25	43					0	0	0.870114	0	0
COL14A1	7373	broad.mit.edu	37	8	121210169	121210169	+	Splice_Site	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:121210169G>A	ENST00000297848.3	+	7	982	c.712_splice	c.e7+1	p.G238_splice	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Splice_Site_p.G238_splice|COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000537875.1_Splice_Site_p.G238_splice	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	238	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.G238S(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TACACTAACAGGTATGTTTTG	0.333000													10	99					0	0	0.387290	0	0
FAT3	120114	broad.mit.edu	37	11	92620196	92620196	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:92620196C>T	ENST00000298047.6	+	24	12985	c.12968C>T	c.(12967-12969)aCc>aTc	p.T4323I	FAT3_ENST00000525166.1_Missense_Mutation_p.T4173I|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.T4323I|FAT3_ENST00000533797.1_Missense_Mutation_p.T658I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4323					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.T4323I(2)|p.T898I(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAGAAGTGACCTGCTTTGCA	0.473000										TCGA Ovarian(4;0.039)			6	13					0	0	0.217242	0	0
LRRC6	23639	broad.mit.edu	37	8	133650261	133650261	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:133650261C>A	ENST00000519595.1	-	4	447	c.349G>T	c.(349-351)Gag>Tag	p.E117*	LRRC6_ENST00000518642.1_Nonsense_Mutation_p.E117*|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Nonsense_Mutation_p.E117*			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	117						cytoplasm		p.E117*(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGAAAGAGCTCCTTCAGATGG	0.438000													89	94					1.72036e-36	3.17056e-36	0.870114	1	0
CLLU1OS	574016	broad.mit.edu	37	12	92814926	92814926	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:92814926G>A	ENST00000378487.2	-	3	167	c.166C>T	c.(166-168)Cca>Tca	p.P56S	CLLU1OS_ENST00000538965.1_Missense_Mutation_p.P56S	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	56								p.P56S(1)		large_intestine(1)|lung(7)	8						TCATAGTTTGGAGGTAAACTT	0.418000													30	206					0	0	0.717897	0	0
SP100	6672	broad.mit.edu	37	2	231331929	231331929	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:231331929G>T	ENST00000264052.5	+	13	1645	c.1291_splice	c.e13+1	p.K430_splice	SP100_ENST00000409112.1_Splice_Site_p.K430_splice|SP100_ENST00000341950.4_Splice_Site_p.K430_splice|SP100_ENST00000409897.1_Splice_Site_p.K395_splice|SP100_ENST00000427101.2_Intron|SP100_ENST00000340126.4_Splice_Site_p.K430_splice|SP100_ENST00000409824.1_Splice_Site_p.K405_splice|SP100_ENST00000409341.1_Splice_Site_p.K430_splice	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	430					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	p.K430N(2)|p.K430K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGGTGAGAAGGGTAAGAACA	0.557000													22	113					2.89027e-11	3.83129e-11	0.624587	1	0
DLX5	1749	broad.mit.edu	37	7	96651649	96651649	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:96651649C>A	ENST00000222598.4	-	2	861	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.V130L	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	130					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.M129_V130>IL(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TTGCCATTCACCATTCTCACC	0.463000													17	167					0.000566183	0.000600019	0.520397	1	0
PPM1B	5495	broad.mit.edu	37	2	44428764	44428764	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:44428764G>C	ENST00000378551.2	+	2	838	c.426G>C	c.(424-426)aaG>aaC	p.K142N	PPM1B_ENST00000409895.4_Missense_Mutation_p.K142N|PPM1B_ENST00000409432.3_Missense_Mutation_p.K142N|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000282412.4_Missense_Mutation_p.K142N	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	142					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.K142N(3)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTCACCTAAGCATATCTACT	0.418000													55	127					0	0	0.870114	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351469	60351469	+	Silent	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:60351469A>G	ENST00000602932.1	-	2	222	c.192T>C	c.(190-192)cgT>cgC	p.R64R	TBC1D3P2_ENST00000581291.1_RNA																							GACCTCTACCACGTCCATCCT	0.537000													78	442					0	0	0.870114	0	0
SYNE1	23345	broad.mit.edu	37	6	152651069	152651069	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:152651069C>A	ENST00000367255.5	-	78	15352	c.14751G>T	c.(14749-14751)ctG>ctT	p.L4917L	SYNE1_ENST00000265368.4_Silent_p.L4917L|SYNE1_ENST00000341594.5_Silent_p.L4664L|SYNE1_ENST00000423061.1_Silent_p.L4846L|SYNE1_ENST00000448038.1_Silent_p.L4846L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4917					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	p.L4917L(2)|p.L4846L(1)		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)		GGATGTCCTGCAGGTTGAGGT	0.502000										HNSCC(10;0.0054)			44	188					5.20837e-25	8.75006e-25	0.840704	1	0
VCAN	1462	broad.mit.edu	37	5	82816655	82816655	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:82816655C>A	ENST00000265077.3	+	7	3095	c.2530C>A	c.(2530-2532)Cca>Aca	p.P844T	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P844T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P796T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	844	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.P844T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TAAAGACATCCCAAGTTTCAC	0.433000													30	119					3.99451e-17	6.02574e-17	0.740014	1	0
ARAP3	64411	broad.mit.edu	37	5	141059692	141059692	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:141059692C>A	ENST00000239440.4	-	2	427	c.362G>T	c.(361-363)gGg>gTg	p.G121V	ARAP3_ENST00000508305.1_Missense_Mutation_p.G43V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	121	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.G121V(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCCTGGTCCCCCGAGGGCTGG	0.647000													33	185					1.66425e-11	2.23205e-11	0.804634	1	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974692	29974692	+	RNA	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:29974692C>A	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							TCGACAGTGACGCCGTGAGTC	0.667000													5	7					0.00307968	0.00321673	0.278610	1	0
PKD1	5310	broad.mit.edu	37	16	2158369	2158369	+	Missense_Mutation	SNP	C	C	A	rs148069029	byFrequency	TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:2158369C>A	ENST00000262304.4	-	15	7007	c.6799G>T	c.(6799-6801)Gtg>Ttg	p.V2267L	PKD1_ENST00000423118.1_Missense_Mutation_p.V2267L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2267	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.V2267L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTGACCACACGCGGTATGAG	0.642000													27	63					3.65163e-15	5.30783e-15	0.706142	1	0
EEA1	8411	broad.mit.edu	37	12	93213135	93213135	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:93213135C>A	ENST00000322349.8	-	14	1941	c.1677G>T	c.(1675-1677)gaG>gaT	p.E559D		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	559	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	p.E559D(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GAACAGCAGTCTCTCCTTCAC	0.308000													17	126					2.37509e-13	3.31931e-13	0.592651	1	0
CLSTN2	64084	broad.mit.edu	37	3	140285095	140285095	+	Nonstop_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:140285095G>T	ENST00000458420.3	+	17	3058	c.2868G>T	c.(2866-2868)taG>taT	p.*956Y		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	0					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.*956Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCCCCTACTAGTGCCCAGGGG	0.577000										HNSCC(16;0.037)			4	6					0.00024832	0.000264919	0.150653	1	0
CACNG6	59285	broad.mit.edu	37	19	54515405	54515405	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:54515405G>T	ENST00000252729.2	+	4	1335	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W	CACNG6_ENST00000352529.1_Missense_Mutation_p.G178W|CACNG6_ENST00000346968.2_Missense_Mutation_p.G203W	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	249						voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G249W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGGCCCTGGGGGTCCCTCTG	0.667000													24	69					3.6726e-16	5.44747e-16	0.667858	1	0
CYP24A1	1591	broad.mit.edu	37	20	52779269	52779269	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:52779269G>T	ENST00000216862.3	-	7	1370	c.977C>A	c.(976-978)gCt>gAt	p.A326D	CYP24A1_ENST00000395954.3_Missense_Mutation_p.A184D|CYP24A1_ENST00000395955.3_Missense_Mutation_p.A326D	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	326					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.A326D(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTCCACCGCAGCCAGCTGGAG	0.418000													29	83					1.62565e-12	2.25612e-12	0.760397	1	0
DPP6	1804	broad.mit.edu	37	7	154429579	154429579	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:154429579C>A	ENST00000404039.1	+	6	1071	c.484C>A	c.(484-486)Cat>Aat	p.H162N	DPP6_ENST00000377770.3_Missense_Mutation_p.H226N|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000332007.3_Missense_Mutation_p.H164N	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	226					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)			CAAAATTCCTCATGGGTAAGA	0.403000													3	15					0.150653	0.152759	0.150653	1	0
ASB15	142685	broad.mit.edu	37	7	123267186	123267186	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:123267186G>T	ENST00000451558.1	+	11	1241	c.720G>T	c.(718-720)gcG>gcT	p.A240A	ASB15_ENST00000434204.1_Silent_p.A240A|ASB15_ENST00000451215.1_Silent_p.A240A|ASB15_ENST00000540573.1_Silent_p.A240A|ASB15_ENST00000275699.3_Silent_p.A240A			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	240					intracellular signal transduction			p.A240A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTGCTTTGGCGGATGATGGGG	0.498000													69	129					1.04643e-32	1.8723e-32	0.870114	1	0
OR11H4	390442	broad.mit.edu	37	14	20711254	20711254	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:20711254A>T	ENST00000315409.2	+	1	357	c.304A>T	c.(304-306)Atc>Ttc	p.I102F		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I102F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GACCAAGGCCATCTCATTTTC	0.438000													57	163					0	0	0.870114	0	0
TKTL2	84076	broad.mit.edu	37	4	164394038	164394038	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:164394038C>A	ENST00000280605.3	-	1	1009	c.849G>T	c.(847-849)caG>caT	p.Q283H		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	283						cytoplasm	metal ion binding|transketolase activity	p.Q283H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTCATTGGTCTGTATCTGAC	0.408000													179	240					1.68116e-76	3.31251e-76	0.870114	1	0
RAG1	5896	broad.mit.edu	37	11	36596358	36596358	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:36596358C>T	ENST00000299440.5	+	2	1616	c.1504C>T	c.(1504-1506)Cct>Tct	p.P502S		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	502					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.P502S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATTTTTCAGCCTTTGCATGC	0.507000									Familial Hemophagocytic Lymphohistiocytosis				98	165					0	0	0.870114	0	0
NTRK3	4916	broad.mit.edu	37	15	88476242	88476242	+	Splice_Site	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:88476242C>A	ENST00000394480.1	-	16	2211		c.e16+1		NTRK3_ENST00000360948.2_Splice_Site|NTRK3_ENST00000542733.2_Splice_Site|NTRK3_ENST00000357724.2_Splice_Site|NTRK3_ENST00000557856.1_Splice_Site|NTRK3_ENST00000355254.2_Splice_Site|NTRK3_ENST00000558676.1_Splice_Site	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.?(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCTTGCTTACCTGAGGAACT	0.502000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			18	21					8.00594e-06	8.94782e-06	0.557998	1	0
RPLP0	6175	broad.mit.edu	37	12	120636414	120636414	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:120636414G>C	ENST00000551150.1	-	5	909	c.594C>G	c.(592-594)atC>atG	p.I198M	RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000228306.4_Missense_Mutation_p.I198M|RPLP0_ENST00000392514.4_Missense_Mutation_p.I198M|RPLP0_ENST00000546989.1_Missense_Mutation_p.I162M			P05388	RLA0_HUMAN	ribosomal protein, large, P0	198					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	p.I198M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGGTTGTAGATGCTGCCAT	0.527000													22	85					0	0	0.624587	0	0
ADCY1	107	broad.mit.edu	37	7	45699649	45699649	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:45699649A>G	ENST00000297323.7	+	7	1338	c.1316A>G	c.(1315-1317)cAt>cGt	p.H439R	ADCY1_ENST00000432715.1_Missense_Mutation_p.H214R	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	439					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.H439R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGGAAGGTTCATATCACAAAG	0.517000													36	70					0	0	0.804634	0	0
OR7G1	125962	broad.mit.edu	37	19	9226295	9226295	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:9226295C>T	ENST00000293614.1	-	1	144	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	OR7G1_ENST00000541538.1_Missense_Mutation_p.V49I			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V49I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TCAGAGATGACAGCCAGGAGA	0.493000													58	258					0	0	0.870114	0	0
HNRNPU	3192	broad.mit.edu	37	1	245020932	245020932	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:245020932G>A	ENST00000444376.2	-	8	1759	c.1525C>T	c.(1525-1527)Ctt>Ttt	p.L509F	HNRNPU_ENST00000283179.9_Missense_Mutation_p.L528F	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	528					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	p.L509F(1)|p.L528F(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTTGTGCCAAGAATGTTATAT	0.403000													40	373					0	0	0.847076	0	0
XIRP2	129446	broad.mit.edu	37	2	168099835	168099835	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:168099835G>A	ENST00000409195.1	+	9	2022	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E645K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E423K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	470					actin cytoskeleton organization	cell junction	actin binding	p.E645K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAATTCCTGAGCTAGCCAG	0.433000													17	54					0	0	0.557998	0	0
CROCC	9696	broad.mit.edu	37	1	17292345	17292345	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:17292345C>T	ENST00000375541.5	+	28	4602	c.4533C>T	c.(4531-4533)ctC>ctT	p.L1511L		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1511					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.L1511L(1)		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)		GCGGGGCCCTCCGGGAATTCC	0.667000													18	40					0	0	0.639603	0	0
PINX1	54984	broad.mit.edu	37	8	10622935	10622935	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:10622935C>A	ENST00000314787.3	-	7	1082	c.963G>T	c.(961-963)aaG>aaT	p.K321N	PINX1_ENST00000519088.1_3'UTR|SOX7_ENST00000554914.1_Intron|PINX1_ENST00000426190.2_3'UTR|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000553390.1_Intron	NM_017884.4	NP_060354.4			PIN2/TERF1 interacting, telomerase inhibitor 1									p.K321N(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TCTTCTTCTTCTTTTTCACTA	0.507000													6	20					0.0215528	0.0222211	0.217242	1	0
TTC17	55761	broad.mit.edu	37	11	43465039	43465039	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:43465039G>C	ENST00000039989.4	+	17	2430	c.2416G>C	c.(2416-2418)Gga>Cga	p.G806R	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.G863R	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	806							binding	p.G806R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGACTTACAAGGAATACGGGT	0.493000													21	53					0	0	0.654019	0	0
AFTPH	54812	broad.mit.edu	37	2	64778576	64778576	+	Splice_Site	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:64778576G>A	ENST00000422803.1	+	2	282		c.e2-1		AFTPH_ENST00000238855.7_Splice_Site|AFTPH_ENST00000238856.4_Splice_Site			Q6ULP2	AFTIN_HUMAN	aftiphilin						protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CTTTTTTACAGGTGTAAATTA	0.338000													27	87					0	0	0.681144	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60994099	60994099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:60994099G>T	ENST00000373880.4	+	2	406	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	PHYHIPL_ENST00000373878.3_Nonsense_Mutation_p.E22*	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	48								p.E48*(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AGCAGAGATGGAAGAACTTCC	0.348000													23	63					7.88262e-20	1.23099e-19	0.654019	1	0
FLNB	2317	broad.mit.edu	37	3	58154384	58154384	+	Splice_Site	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:58154384A>T	ENST00000295956.4	+	44	7581	c.7417_splice	c.e44+1	p.T2472_splice	FLNB_ENST00000358537.3_Splice_Site_p.T2448_splice|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000493452.1_Splice_Site_p.T2279_splice|FLNB_ENST00000490882.1_Splice_Site_p.T2503_splice|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Splice_Site_p.T2292_splice|FLNB_ENST00000429972.2_Splice_Site_p.T2461_splice|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Splice_Site_p.T2431_splice	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2472	Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.T2472T(1)|p.T2503T(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAAGGTGACAGGTAACGAAC	0.502000													10	29					0	0	0.335167	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102291945	102291945	+	RNA	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:102291945G>T	ENST00000561463.1	+	0	711																		p.G85W(1)									ACCGCCTCATGGGGGTAGGCG	0.592000													10	36					7.48243e-07	8.71676e-07	0.335167	1	0
DNAH2	146754	broad.mit.edu	37	17	7667583	7667583	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:7667583G>A	ENST00000572933.1	+	20	4788	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1110K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1110	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1110K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGTGCCAGTCGAGGACAGTGT	0.557000													18	96					0	0	0.608945	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960555	143960555	+	Silent	SNP	G	G	A	rs5284		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:143960555G>A	ENST00000292427.4	-	2	320	c.288C>T	c.(286-288)gaC>gaT	p.D96D	CYP11B1_ENST00000377675.3_Silent_p.D141D|CYP11B1_ENST00000517471.1_Silent_p.D96D	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	96					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.D96D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCTTCTCCACGTCCTCCGGCA	0.627000									Familial Hyperaldosteronism type I				37	51					0	0	0.870114	0	0
ITGA8	8516	broad.mit.edu	37	10	15646309	15646309	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:15646309G>A	ENST00000378076.3	-	20	2369	c.2016C>T	c.(2014-2016)ctC>ctT	p.L672L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	672					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.L672L(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATTTATTATGAGCATAAGGT	0.368000													16	116					0	0	0.479597	0	0
FH	2271	broad.mit.edu	37	1	241669315	241669315	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:241669315C>A	ENST00000366560.3	-	6	930	c.892G>T	c.(892-894)Gct>Tct	p.A298S		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	298					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	p.A298S(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GTAAGTGCAGCCACTTTTGCA	0.413000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				36	133					2.2871e-25	3.87495e-25	0.834066	1	0
C11orf82	220042	broad.mit.edu	37	11	82643734	82643734	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:82643734G>C	ENST00000533655.1	+	6	1566	c.1354G>C	c.(1354-1356)Gat>Cat	p.D452H	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.D151H|C11orf82_ENST00000430323.2_Missense_Mutation_p.D452H	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	452					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.D452H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TAATGACATTGATAAATTTCA	0.423000													16	102					0	0	0.539581	0	0
CDON	50937	broad.mit.edu	37	11	125891246	125891246	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:125891246C>A	ENST00000392693.3	-	3	373	c.246G>T	c.(244-246)ctG>ctT	p.L82L	CDON_ENST00000263577.7_Silent_p.L82L	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	82	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	p.L82L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AAAGAATTGTCAGAGTCCCCT	0.468000													19	68					2.35188e-11	3.14372e-11	0.539581	1	0
MCRS1	10445	broad.mit.edu	37	12	49952452	49952452	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:49952452C>G	ENST00000550165.1	-	16	1629	c.1363G>C	c.(1363-1365)Gag>Cag	p.E455Q	MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000357123.4_Missense_Mutation_p.E468Q|MCRS1_ENST00000343810.4_Missense_Mutation_p.E455Q|MCRS1_ENST00000546244.1_Missense_Mutation_p.E264Q			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	455					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	p.E468Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TTGGCAGCCTCAGCCCTGATG	0.602000													7	90					0	0	0.307466	0	0
KLK7	5650	broad.mit.edu	37	19	51483660	51483660	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:51483660G>T	ENST00000391807.1	-	4	406	c.305C>A	c.(304-306)cCc>cAc	p.P102H	KLK7_ENST00000597707.1_Missense_Mutation_p.P30H|KLK7_ENST00000336317.4_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.P102H	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	102	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	p.P102H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GGAGTAGCCGGGGTGGCGGAA	0.572000													21	33					2.37509e-13	3.31931e-13	0.592651	1	0
ADCY10	55811	broad.mit.edu	37	1	167815034	167815034	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:167815034C>A	ENST00000367848.1	-	21	2995	c.2498G>T	c.(2497-2499)aGg>aTg	p.R833M	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.R925M|ADCY10_ENST00000545172.1_Missense_Mutation_p.R772M			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	925					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.R925M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GAATCGAATCCTGTGGCACTC	0.493000													46	99					3.86361e-14	5.49582e-14	0.870114	1	0
ANO3	63982	broad.mit.edu	37	11	26568988	26568988	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:26568988C>T	ENST00000256737.3	+	12	2032	c.1180C>T	c.(1180-1182)Cta>Tta	p.L394L	ANO3_ENST00000537978.1_Silent_p.L378L|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000525139.1_Silent_p.L378L|ANO3_ENST00000531568.1_Silent_p.L248L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	394						chloride channel complex	chloride channel activity	p.L394L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GAAGATTGGACTATACTTTGC	0.373000													16	537					0	0	0.539581	0	0
OR9G1	390174	broad.mit.edu	37	11	56468595	56468595	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:56468595G>T	ENST00000312153.1	+	1	732	c.732G>T	c.(730-732)ctG>ctT	p.L244L		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1									p.L244L(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CCTCCCACCTGACCTCTGTCA	0.458000													16	438					1.88708e-17	2.86291e-17	0.729181	1	0
KALRN	8997	broad.mit.edu	37	3	123813744	123813744	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:123813744G>A	ENST00000360013.3	+	1	187	c.60G>A	c.(58-60)ctG>ctA	p.L20L	KALRN_ENST00000460856.1_Silent_p.L20L|KALRN_ENST00000240874.3_Silent_p.L20L|KALRN_ENST00000477496.1_3'UTR	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	20					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L20L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCGGCTGCTGGATCGAGGTA	0.517000													9	66					0	0	0.307466	0	0
CDH18	1016	broad.mit.edu	37	5	19473730	19473730	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:19473730C>A	ENST00000507958.1	-	15	2968	c.1978G>T	c.(1978-1980)Gat>Tat	p.D660Y	CDH18_ENST00000274170.4_Missense_Mutation_p.D660Y|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.D660Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	660					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D660Y(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCTCCTTCATCATCATAGGTG	0.502000													50	260					3.68337e-26	6.28062e-26	0.870114	1	0
MRGPRD	116512	broad.mit.edu	37	11	68747704	68747704	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:68747704G>T	ENST00000309106.3	-	1	751	c.752C>A	c.(751-753)cCc>cAc	p.P251H		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	251						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P251H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCATCTCGGGCGGCAGGCT	0.612000													4	27					0.00116845	0.00122848	0.217242	1	0
ZNF257	113835	broad.mit.edu	37	19	22271585	22271585	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:22271585C>G	ENST00000594947.1	+	4	1177	c.1033C>G	c.(1033-1035)Caa>Gaa	p.Q345E		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q345E(1)|p.Q345*(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAACCCTTCCAATGTGAAGA	0.418000													28	46					0	0	0.693898	0	0
ECM2	1842	broad.mit.edu	37	9	95285068	95285068	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:95285068C>T	ENST00000344604.5	-	2	230	c.81G>A	c.(79-81)agG>agA	p.R27R	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.R27R|ECM2_ENST00000375540.1_Silent_p.R27R	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	27					cell-matrix adhesion		integrin binding	p.R27R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCCTTTGCTTCCTAGGAATTT	0.358000													30	134					0	0	0.717897	0	0
CSMD2	114784	broad.mit.edu	37	1	34035054	34035054	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:34035054G>T	ENST00000373381.4	-	52	8227	c.8051C>A	c.(8050-8052)tCc>tAc	p.S2684Y		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2686	Sushi 17.					integral to membrane|plasma membrane	protein binding	p.S2686Y(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTGTATCCGGAATTGCAGGA	0.582000													20	72					6.38683e-12	8.72721e-12	0.729181	1	0
IL17F	112744	broad.mit.edu	37	6	52103575	52103575	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:52103575G>T	ENST00000336123.4	-	2	314	c.207C>A	c.(205-207)tcC>tcA	p.S69S		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	69					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	p.M70L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TACGTGACATGGAAACGCGCT	0.443000													12	61					1.5842e-08	1.96915e-08	0.435327	1	0
URB2	9816	broad.mit.edu	37	1	229773791	229773791	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:229773791A>T	ENST00000258243.2	+	4	3567	c.3431A>T	c.(3430-3432)gAc>gTc	p.D1144V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1144						nucleolus		p.D1144V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAGGAAGCGACAGGACGCTG	0.582000													21	84					0	0	0.654019	0	0
TFIP11	24144	broad.mit.edu	37	22	26892178	26892178	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr22:26892178G>A	ENST00000407690.1	-	12	1993	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	TFIP11_ENST00000407148.1_Silent_p.I570I|TFIP11_ENST00000405938.1_Silent_p.I570I|TFIP11_ENST00000407431.1_Silent_p.I570I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	570					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	p.I570I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GCTTACTACGGATGGGGGAAT	0.592000													7	58					0	0	0.335167	0	0
DCHS1	8642	broad.mit.edu	37	11	6651357	6651357	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:6651357C>T	ENST00000299441.3	-	10	5079	c.4668G>A	c.(4666-4668)gaG>gaA	p.E1556E		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1556	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E1556E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGGCTGGTCCTCTGGGAGGC	0.716000													9	4					0	0	0.307466	0	0
ZNF492	57615	broad.mit.edu	37	19	22847441	22847441	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:22847441C>A	ENST00000456783.2	+	4	1214	c.970C>A	c.(970-972)Ctt>Att	p.L324I		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L324I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GTTATCCCACCTTACTACACA	0.388000													38	43					5.71845e-15	8.28189e-15	0.812448	1	0
INSR	3643	broad.mit.edu	37	19	7267399	7267399	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:7267399C>A	ENST00000341500.5	-	2	648	c.609G>T	c.(607-609)ggG>ggT	p.G203G	INSR_ENST00000302850.5_Silent_p.G203G	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	203	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.G203G(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGACAAACTGCCCGTTGATGA	0.522000													20	94					9.04412e-07	1.04597e-06	0.681144	1	0
KIF2B	84643	broad.mit.edu	37	17	51901221	51901221	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:51901221A>G	ENST00000268919.4	+	1	983	c.827A>G	c.(826-828)aAc>aGc	p.N276S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	276	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.N276S(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAGCCTCCAACGAGTTGGTG	0.567000													15	66					0	0	0.457914	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376528	138376528	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:138376528G>T	ENST00000356818.2	+	4	721	c.172G>T	c.(172-174)Ggg>Tgg	p.G58W	PPP1R26_ENST00000401470.3_Missense_Mutation_p.G58W|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G58W|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G58W|PPP1R26_ENST00000605660.1_Missense_Mutation_p.G58W|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	58						nucleolus	protein binding	p.G58W(1)									GCAGCGCGACGGGGCTGCTCG	0.697000													16	41					3.41278e-10	4.42829e-10	0.520397	1	0
FLG2	388698	broad.mit.edu	37	1	152324370	152324370	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:152324370G>T	ENST00000388718.5	-	3	5964	c.5892C>A	c.(5890-5892)ccC>ccA	p.P1964P	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1964							calcium ion binding|structural molecule activity	p.P1964P(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCCTGAGGGCCCTTCAC	0.527000													94	431					3.07327e-39	5.77052e-39	0.870114	1	0
OTOGL	283310	broad.mit.edu	37	12	80733009	80733009	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:80733009G>T	ENST00000458043.2	+	42	4994	c.4988G>T	c.(4987-4989)cGa>cTa	p.R1663L	OTOGL_ENST00000547103.1_Missense_Mutation_p.R1651L	NM_173591.3	NP_775862.3			otogelin-like									p.R28L(1)|p.R1663L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGGCTTCCGATTTAACTTG	0.353000													120	315					4.71618e-75	9.26974e-75	0.870114	1	0
TTC38	55020	broad.mit.edu	37	22	46684477	46684477	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr22:46684477C>T	ENST00000381031.3	+	11	1150	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	TTC38_ENST00000445282.2_Silent_p.D300D	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	358							binding	p.D358D(1)		endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CCCTGCGGGACGCCAGCGAGT	0.642000													20	68					0	0	0.624587	0	0
CR1	1378	broad.mit.edu	37	1	207760746	207760746	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:207760746C>A	ENST00000367049.4	+	34	5546	c.5546C>A	c.(5545-5547)cCa>cAa	p.P1849Q	CR1_ENST00000367051.1_Missense_Mutation_p.P1399Q|CR1_ENST00000400960.2_Missense_Mutation_p.P1399Q|CR1_ENST00000367053.1_Missense_Mutation_p.P1399Q|CR1_ENST00000367052.1_Missense_Mutation_p.P1399Q|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1399	Sushi 29.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.P1849K(1)|p.P1404K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGTAAAACCCCAGAGCAGTTT	0.438000													26	99					6.07407e-21	9.59284e-21	0.717897	1	0
PCDHB13	56123	broad.mit.edu	37	5	140594856	140594856	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:140594856G>T	ENST00000341948.4	+	1	1348	c.1161G>T	c.(1159-1161)caG>caT	p.Q387H		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		387	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.Q387H(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCATTCAGGAGGATCTAC	0.458000													35	103					2.80507e-11	3.73075e-11	0.760397	1	0
WSCD2	9671	broad.mit.edu	37	12	108589971	108589971	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:108589971G>T	ENST00000332082.4	+	3	1180	c.362G>T	c.(361-363)cGg>cTg	p.R121L	WSCD2_ENST00000261400.3_Missense_Mutation_p.R121L|WSCD2_ENST00000547525.1_Missense_Mutation_p.R121L|WSCD2_ENST00000549903.1_Missense_Mutation_p.R121L			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	121						integral to membrane		p.R121L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGGGTTGTCCGGGAGAAGGAG	0.567000													11	31					6.40141e-05	6.94066e-05	0.387290	1	0
FRY	10129	broad.mit.edu	37	13	32783856	32783856	+	Silent	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:32783856T>A	ENST00000380250.3	+	33	4906	c.4410T>A	c.(4408-4410)gtT>gtA	p.V1470V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.V1470V(1)		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)		GCGACACAGTTCTCCTACCCT	0.483000													35	41					0	0	0.812448	0	0
OR8K3	219473	broad.mit.edu	37	11	56085806	56085806	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:56085806G>T	ENST00000312711.1	+	1	24	c.24G>T	c.(22-24)acG>acT	p.T8T		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T8T(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATCTAACAACGGTGAATGAAT	0.413000													30	166					3.69857e-22	5.98673e-22	0.729181	1	0
DGKK	139189	broad.mit.edu	37	X	50134575	50134575	+	RNA	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:50134575C>G	ENST00000376025.2	-	0	1764							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.?(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CCAACTGACACTGCAAGAACA	0.493000													17	59					0	0	0.520397	0	0
DCAF8	50717	broad.mit.edu	37	1	160192443	160192443	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:160192443C>T	ENST00000368073.3	-	11	1872	c.1438G>A	c.(1438-1440)Gtg>Atg	p.V480M	DCAF8_ENST00000556710.1_Missense_Mutation_p.V634M|DCAF8_ENST00000326837.2_Missense_Mutation_p.V480M|DCAF8_ENST00000368074.1_Missense_Mutation_p.V480M|DCAF8_ENST00000461888.1_5'UTR			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	480						CUL4 RING ubiquitin ligase complex	protein binding	p.V480M(1)|p.V634M(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ATACTCACCACGCCTCCCTTG	0.502000													12	156					0	0	0.435327	0	0
KANSL1	284058	broad.mit.edu	37	17	44248468	44248468	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:44248468G>C	ENST00000262419.6	-	2	1512	c.1042C>G	c.(1042-1044)Cga>Gga	p.R348G	KANSL1_ENST00000574590.1_Missense_Mutation_p.R348G|KANSL1_ENST00000575318.1_Missense_Mutation_p.R348G|KANSL1_ENST00000576248.1_5'UTR|KANSL1_ENST00000572904.1_Missense_Mutation_p.R348G|KANSL1_ENST00000432791.1_Missense_Mutation_p.R348G|KANSL1_ENST00000393476.3_5'UTR	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	348						MLL1 complex	protein binding	p.R348*(2)|p.R348G(1)									TCAGCCTTTCGAGTCAGCATC	0.458000													17	132					0	0	0.520397	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230312	140230312	+	Silent	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:140230312G>C	ENST00000378122.3	+	1	2956	c.2232G>C	c.(2230-2232)gcG>gcC	p.A744A	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.A744A|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1												p.A744A(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCTAGCGCGGTGGGGAGTT	0.652000													13	59					0	0	0.479597	0	0
CASP10	843	broad.mit.edu	37	2	202074065	202074065	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:202074065C>T	ENST00000286186.6	+	9	1630	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Nonsense_Mutation_p.Q356*|CASP10_ENST00000448480.1_Nonsense_Mutation_p.Q356*|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000272879.5_Nonsense_Mutation_p.Q399*|CASP10_ENST00000313728.7_Nonsense_Mutation_p.Q332*	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	399					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	p.Q399*(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CTTTTTCATCCAGGCCTGCCA	0.532000													20	62					0	0	0.608945	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28214865	28214865	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr21:28214865G>T	ENST00000284984.2	-	2	1324	c.870C>A	c.(868-870)gcC>gcA	p.A290A		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	290	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.A290E(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGTACAATCTGGCTGCCACCG	0.512000													36	45					6.90743e-12	9.42244e-12	0.788014	1	0
F13A1	2162	broad.mit.edu	37	6	6305703	6305703	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:6305703G>T	ENST00000264870.3	-	3	465	c.200C>A	c.(199-201)aCt>aAt	p.T67N		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	67					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T67N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATACTTGTCAGTGTGGTGGTC	0.448000													38	87					4.67007e-22	7.52871e-22	0.840704	1	0
GAD1	2571	broad.mit.edu	37	2	171700608	171700608	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:171700608A>T	ENST00000358196.3	+	7	1242	c.692A>T	c.(691-693)aAg>aTg	p.K231M	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	231					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.K231M(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATAACACTTAAGAAGATGAGA	0.378000													24	80					0	0	0.681144	0	0
EDARADD	128178	broad.mit.edu	37	1	236645629	236645629	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:236645629C>A	ENST00000359362.5	+	6	512	c.298C>A	c.(298-300)Ccc>Acc	p.P100T	EDARADD_ENST00000334232.4_Missense_Mutation_p.P110T	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	110					cell differentiation|signal transduction	cytoplasm		p.P110T(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCTCCGGGCCCCCACCATAAG	0.478000													30	90					7.38237e-10	9.42581e-10	0.706142	1	0
KLHL32	114792	broad.mit.edu	37	6	97424052	97424052	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:97424052G>T	ENST00000369261.4	+	3	566	c.204_splice	c.e3+1	p.R68_splice	KLHL32_ENST00000536676.1_Splice_Site_p.R68_splice|KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Splice_Site_p.R68_splice	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	68	BTB.							p.R68L(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GACTATTTCCGGGTAAGTCAG	0.458000													38	62					4.67007e-22	7.52871e-22	0.840704	1	0
PRRC2B	84726	broad.mit.edu	37	9	134360104	134360104	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:134360104G>T	ENST00000357304.4	+	23	5547	c.5492G>T	c.(5491-5493)cGg>cTg	p.R1831L	PRRC2B_ENST00000405995.1_Missense_Mutation_p.R1137L|PRRC2B_ENST00000458550.1_Missense_Mutation_p.R1137L|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1831							protein binding	p.R1831L(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCCATCCTGCGGCGGGACCAT	0.572000													42	88					4.14194e-30	7.31253e-30	0.859065	1	0
HS3ST1	9957	broad.mit.edu	37	4	11400898	11400898	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:11400898C>T	ENST00000002596.5	-	2	1906	c.732G>A	c.(730-732)tcG>tcA	p.S244S		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	244						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.S244S(3)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						AGTAGAAGTTCGAAGCATTGA	0.572000													8	57					0	0	0.335167	0	0
GLDC	2731	broad.mit.edu	37	9	6554779	6554779	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:6554779C>A	ENST00000321612.6	-	19	2355	c.2205G>T	c.(2203-2205)gtG>gtT	p.V735V		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	735					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	p.V735V(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GACAGATTCCCACCTACCACA	0.577000													7	14					0.0293803	0.0301744	0.248553	1	0
TAAR1	134864	broad.mit.edu	37	6	132967082	132967082	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:132967082C>A	ENST00000275216.1	-	1	60	c.61G>T	c.(61-63)Gat>Tat	p.D21Y		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	21						plasma membrane		p.D21Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	GCACGGACATCATTTGACCAG	0.383000													175	301					8.46955e-67	1.66061e-66	0.870114	1	0
DDX10	1662	broad.mit.edu	37	11	108709290	108709290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:108709290G>T	ENST00000526794.1	+	14	2115	c.2083G>T	c.(2083-2085)Gag>Tag	p.E695*	DDX10_ENST00000322536.3_Nonsense_Mutation_p.E695*			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	695							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.E695*(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGATGAAGGGGAGGTAAGATT	0.328000			T	NUP98	AML*								41	232					2.2871e-25	3.87495e-25	0.834066	1	0
TAAR5	9038	broad.mit.edu	37	6	132910326	132910326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:132910326G>T	ENST00000258034.2	-	1	551	c.500C>A	c.(499-501)tCg>tAg	p.S167*		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	167					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.S167*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GAGGAATAACGAAGTGTATGC	0.547000													8	110					1.58986e-06	1.81764e-06	0.361761	1	0
GPR149	344758	broad.mit.edu	37	3	154146868	154146868	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:154146868G>A	ENST00000389740.2	-	1	636	c.537C>T	c.(535-537)ccC>ccT	p.P179P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	179						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P179P(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGCAGCCCCAGGGCGTGCGCA	0.667000													8	30					0	0	0.278610	0	0
ALX3	257	broad.mit.edu	37	1	110607491	110607491	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:110607491G>A	ENST00000369792.4	-	2	399	c.312C>T	c.(310-312)ccC>ccT	p.P104P		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P104P(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGGCAGCTGGGGGAAGCTGG	0.612000													13	40					0	0	0.520397	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369960	86369960	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:86369960C>G	ENST00000400286.2	-	2	1282	c.684G>C	c.(682-684)caG>caC	p.Q228H		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	228	LRRCT 1.					integral to membrane		p.Q228H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AAGTTTTTAACTGCAATAAGT	0.398000													57	76					0	0	0.870114	0	0
SI	6476	broad.mit.edu	37	3	164748524	164748524	+	Silent	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:164748524T>A	ENST00000264382.3	-	25	2930	c.2868A>T	c.(2866-2868)acA>acT	p.T956T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	956	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.T956T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGCCACGTTGTGTGCACTTTT	0.303000										HNSCC(35;0.089)			59	185					0	0	0.870114	0	0
ASPM	259266	broad.mit.edu	37	1	197112929	197112929	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:197112929C>A	ENST00000367409.4	-	3	709	c.453G>T	c.(451-453)tgG>tgT	p.W151C	ASPM_ENST00000294732.7_Missense_Mutation_p.W151C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	151					mitosis	cytoplasm|nucleus	calmodulin binding	p.W151C(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAATGGTATCCCAAAGACTCC	0.289000													4	91					0.150653	0.152759	0.150653	1	0
MASTL	84930	broad.mit.edu	37	10	27456180	27456180	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:27456180C>T	ENST00000375946.4	+	7	1564	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S	MASTL_ENST00000375940.4_Missense_Mutation_p.P321S|MASTL_ENST00000342386.6_Missense_Mutation_p.P321S	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	321	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	p.P321S(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAGCAGTCCCAAATGGGA	0.383000													28	106					0	0	0.706142	0	0
KALRN	8997	broad.mit.edu	37	3	123987731	123987731	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:123987731G>T	ENST00000360013.3	+	5	719	c.592G>T	c.(592-594)Gtg>Ttg	p.V198L	KALRN_ENST00000460856.1_Missense_Mutation_p.V198L|KALRN_ENST00000240874.3_Missense_Mutation_p.V198L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	198					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.V198L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAACAGCGCCGTGCACCTGCT	0.612000													21	34					7.41877e-09	9.25113e-09	0.608945	1	0
EEF2	1938	broad.mit.edu	37	19	3979399	3979399	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:3979399C>A	ENST00000309311.6	-	11	1729	c.1641G>T	c.(1639-1641)gcG>gcT	p.A547A		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	547						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.A547A(1)		endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGGCGCCCGCGATGATAT	0.647000													39	135					7.77092e-38	1.44888e-37	0.870114	1	0
ROR2	4920	broad.mit.edu	37	9	94486620	94486620	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:94486620G>A	ENST00000375708.3	-	9	2354	c.2156C>T	c.(2155-2157)gCc>gTc	p.A719V	ROR2_ENST00000375715.1_Missense_Mutation_p.A579V|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	719	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.A719V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATACACCCAGGCGGGACAGTC	0.642000													8	41					0	0	0.335167	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229254	90229254	+	RNA	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:90229254A>T	ENST00000390278.2	+	0	94																											TTTGACATCCAGATGATCCAG	0.433000													17	116					0	0	0.539581	0	0
HBG2	3048	broad.mit.edu	37	11	5274633	5274633	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:5274633G>T	ENST00000380259.2	-	8	1558	c.318C>A	c.(316-318)ctC>ctA	p.L106L	HBG2_ENST00000336906.4_Silent_p.L106L|HBG2_ENST00000380252.1_Silent_p.L96L					hemoglobin, gamma G									p.L107M(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTTCCCAGGAGCTGTTGAG	0.512000													32	64					1.30916e-28	2.29104e-28	0.870114	1	0
GOLIM4	27333	broad.mit.edu	37	3	167745622	167745622	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:167745622T>C	ENST00000470487.1	-	12	2206	c.1517A>G	c.(1516-1518)tAt>tGt	p.Y506C	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Y478C	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	506	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.Y506C(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTCTCTTTCATAGGCTAGCAA	0.448000													31	182					0	0	0.729181	0	0
GRIP1	23426	broad.mit.edu	37	12	66856730	66856730	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:66856730C>A	ENST00000359742.4	-	9	1256	c.1016G>T	c.(1015-1017)cGg>cTg	p.R339L	GRIP1_ENST00000286445.7_Missense_Mutation_p.R339L|GRIP1_ENST00000398016.3_Missense_Mutation_p.R339L			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	339					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	p.R339L(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TAGGGCCAGCCGGGTCTGATG	0.562000													4	40					0.00909568	0.00942643	0.150653	1	0
PSMA7	5688	broad.mit.edu	37	20	60713265	60713265	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:60713265C>A	ENST00000370873.4	-	5	679	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	PSMA7_ENST00000370861.1_Missense_Mutation_p.D115Y|PSMA7_ENST00000484488.1_5'UTR	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	185					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	p.D185Y(2)		large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			ATGGTCAGATCATCTGTTTCA	0.483000													20	65					3.83957e-06	4.33991e-06	0.639603	1	0
NAV2	89797	broad.mit.edu	37	11	20112467	20112467	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:20112467T>C	ENST00000396085.1	+	28	5925	c.5564T>C	c.(5563-5565)tTa>tCa	p.L1855S	NAV2_ENST00000533917.1_Missense_Mutation_p.L916S|NAV2_ENST00000360655.4_Missense_Mutation_p.L1788S|NAV2_ENST00000396087.3_Missense_Mutation_p.L1911S|NAV2_ENST00000349880.4_Missense_Mutation_p.L1852S|NAV2_ENST00000540292.1_Missense_Mutation_p.L1842S|NAV2_ENST00000527559.2_Missense_Mutation_p.L1840S|NAV2_ENST00000311043.8_Missense_Mutation_p.L916S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1911						nucleus	ATP binding|helicase activity	p.L1911S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGAAATGAGTTAAGAGACAAG	0.493000													10	87					0	0	0.335167	0	0
COL28A1	340267	broad.mit.edu	37	7	7412815	7412815	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:7412815C>T	ENST00000399429.3	-	32	2862	c.2722G>A	c.(2722-2724)Gat>Aat	p.D908N		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	908	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.D908N(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCACGAGAATCTGTCTGTCCA	0.458000													21	85					0	0	0.624587	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28214866	28214866	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr21:28214866G>T	ENST00000284984.2	-	2	1323	c.869C>A	c.(868-870)gCc>gAc	p.A290D		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	290	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.A290E(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTACAATCTGGCTGCCACCGA	0.517000													35	43					4.34311e-12	5.95498e-12	0.779181	1	0
C11orf40	143501	broad.mit.edu	37	11	4592738	4592738	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:4592738G>T	ENST00000307616.1	-	4	568	c.569C>A	c.(568-570)gCa>gAa	p.A190E		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	190								p.A190E(1)		large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGAGCAGTGCTAGGATGGA	0.433000													7	10					0.0293803	0.0301744	0.248553	1	0
MUC5B	727897	broad.mit.edu	37	11	1279598	1279598	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:1279598G>T	ENST00000447027.1	+	43	16660		c.e43+1		MUC5B_ENST00000529681.1_Splice_Site			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.?(2)		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)		CTTCTACGGGGTAAGGGCACA	0.617000													6	29					3.59834e-05	3.9552e-05	0.217242	1	0
NEDD4	4734	broad.mit.edu	37	15	56142862	56142862	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:56142862C>A	ENST00000508342.1	-	10	2781	c.2482G>T	c.(2482-2484)Ggc>Tgc	p.G828C	NEDD4_ENST00000506154.1_Missense_Mutation_p.G812C|NEDD4_ENST00000338963.2_Missense_Mutation_p.G756C|NEDD4_ENST00000435532.3_Missense_Mutation_p.G409C			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	828	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.G409C(1)|p.G756C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ACCTGCTGGCCTGAATCACTG	0.512000													50	64					2.13883e-14	3.06425e-14	0.870114	1	0
C2orf78	388960	broad.mit.edu	37	2	74041303	74041303	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:74041303G>T	ENST00000409561.1	+	2	918	c.797G>T	c.(796-798)gGg>gTg	p.G266V		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	266								p.G266V(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCTACTTCTGGGATGTATTAC	0.453000													25	166					3.6726e-16	5.44747e-16	0.667858	1	0
STAB1	23166	broad.mit.edu	37	3	52536690	52536690	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:52536690G>T	ENST00000321725.6	+	6	606	c.530G>T	c.(529-531)gGg>gTg	p.G177V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	177	EGF-like 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G177V(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGCCACGTGGGGATGGAAGC	0.632000													9	36					4.36969e-10	5.62421e-10	0.435327	1	0
ZNF248	57209	broad.mit.edu	37	10	38120853	38120853	+	Nonsense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:38120853G>C	ENST00000395867.3	-	6	1980	c.1430C>G	c.(1429-1431)tCa>tGa	p.S477*	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Nonsense_Mutation_p.S477*|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S477*(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AGTGAGGGCTGATCTGTGGCA	0.438000													83	156					0	0	0.870114	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329182	23329182	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:23329182C>A	ENST00000597761.2	+	4	1535	c.1336C>A	c.(1336-1338)Cat>Aat	p.H446N		NM_001277403.1	NP_001264332.1			zinc finger protein 730									p.H446N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TAAAAGAATTCATACTGGAGA	0.388000													32	55					1.26612e-14	1.82047e-14	0.779181	1	0
CADPS	8618	broad.mit.edu	37	3	62636555	62636555	+	Silent	SNP	G	G	T	rs139597981		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:62636555G>T	ENST00000383710.4	-	5	1519	c.1170C>A	c.(1168-1170)tcC>tcA	p.S390S	CADPS_ENST00000490353.2_Silent_p.S390S|CADPS_ENST00000283269.9_Silent_p.S390S|CADPS_ENST00000357948.3_Silent_p.S390S	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	390					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.S390S(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CATCTGACTTGGAGAGCTGGT	0.517000													18	105					2.39187e-15	3.49581e-15	0.575678	1	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260163	90260163	+	RNA	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:90260163C>A	ENST00000471857.1	+	0	447																											GGCAGTGGATCTGGGACAGAT	0.478000													35	171					9.8876e-21	1.55627e-20	0.804634	1	0
ZNF830	91603	broad.mit.edu	37	17	33289356	33289356	+	Silent	SNP	T	T	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:33289356T>C	ENST00000361952.3	+	1	808	c.771T>C	c.(769-771)gaT>gaC	p.D257D		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	257					cell division|mitosis	cytoplasm|nucleus	metal ion binding	p.D257D(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				CTGAGGTAGATGCAAGAGTAC	0.453000													24	52					0	0	0.667858	0	0
GPR158	57512	broad.mit.edu	37	10	25887972	25887972	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:25887972C>A	ENST00000376351.3	+	11	3776	c.3417C>A	c.(3415-3417)caC>caA	p.H1139Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1139						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H1139Q(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAATAGGACACCAGGAAAAAA	0.458000													43	99					1.15505e-17	1.75567e-17	0.847076	1	0
ARHGEF18	23370	broad.mit.edu	37	19	7516153	7516153	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:7516153G>T	ENST00000359920.6	+	6	1544		c.e6+1		ARHGEF18_ENST00000319670.9_Splice_Site|CTD-2207O23.3_ENST00000593531.1_Splice_Site	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18						actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.?(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AACACGGAAGGTAGGCCTTCT	0.582000													7	39					5.18039e-06	5.83892e-06	0.278610	1	0
GRM4	2914	broad.mit.edu	37	6	34003554	34003554	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:34003554G>T	ENST00000374181.3	-	8	2502	c.2333C>A	c.(2332-2334)cCc>cAc	p.P778H	GRM4_ENST00000545715.1_Missense_Mutation_p.P470H|GRM4_ENST00000455714.2_Missense_Mutation_p.P638H|GRM4_ENST00000544773.1_Missense_Mutation_p.P609H|GRM4_ENST00000538487.1_Missense_Mutation_p.P778H|GRM4_ENST00000535756.1_Missense_Mutation_p.P645H|GRM4_ENST00000374177.3_Missense_Mutation_p.P662H	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	778					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.P778H(2)|p.P662H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GAAGGTCTCGGGCACGCCGCG	0.577000													21	21					3.5997e-14	5.12957e-14	0.624587	1	0
LRRFIP2	9209	broad.mit.edu	37	3	37107382	37107382	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:37107382G>A	ENST00000421307.1	-	24	2040	c.1618C>T	c.(1618-1620)Cat>Tat	p.H540Y	LRRFIP2_ENST00000354379.4_Missense_Mutation_p.H219Y|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.H243Y|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.H540Y|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.H322Y|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.H243Y	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	540					Wnt receptor signaling pathway		LRR domain binding	p.H540Y(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTGGTTCATGACTGACATCA	0.507000													17	93					0	0	0.693898	0	0
SMAD4	4089	broad.mit.edu	37	18	48591909	48591909	+	Nonsense_Mutation	SNP	G	G	T	rs121912576		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr18:48591909G>T	ENST00000342988.3	+	9	1610	c.1072G>T	c.(1072-1074)Gga>Tga	p.G358*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G358*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G262*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	358	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.G358*(4)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGACCCTTCTGGAGGAGATCG	0.418000													82	83					8.41775e-28	1.46437e-27	0.870114	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18681848	18681848	+	Silent	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:18681848G>C	ENST00000380548.4	+	12	1719	c.1380G>C	c.(1378-1380)gtG>gtC	p.V460V	ADAMTSL1_ENST00000276935.6_Silent_p.V460V|ADAMTSL1_ENST00000327883.7_Silent_p.V460V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	460	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.V460V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GATACCGTGTGGTCCTCTGCA	0.502000													42	227					0	0	0.840704	0	0
UTP18	51096	broad.mit.edu	37	17	49353256	49353256	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:49353256A>T	ENST00000225298.7	+	6	798	c.741A>T	c.(739-741)gaA>gaT	p.E247D		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	247					rRNA processing	nucleolus		p.E247D(1)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CGAATGCTGAACGTCCTACTG	0.388000													15	92					0	0	0.500413	0	0
SLC9C1	285335	broad.mit.edu	37	3	111950283	111950283	+	Silent	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:111950283A>G	ENST00000305815.5	-	13	1749	c.1497T>C	c.(1495-1497)tgT>tgC	p.C499C	SLC9C1_ENST00000487372.1_Silent_p.C451C	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	499					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.C499C(1)									TTTCCTTGTTACAGTGTGGAC	0.323000													20	53					0	0	0.557998	0	0
BRINP1	1620	broad.mit.edu	37	9	121929679	121929679	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:121929679C>A	ENST00000265922.3	-	8	2430	c.1969G>T	c.(1969-1971)Gtg>Ttg	p.V657L	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		657					cell cycle arrest|cell death	cytoplasm	protein binding	p.V657L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TACCCAAACACCTGCACGTCT	0.577000													46	200					5.78141e-17	8.67212e-17	0.864702	1	0
CTCFL	140690	broad.mit.edu	37	20	56099141	56099141	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:56099141G>T	ENST00000426658.2	-	1	782	c.121C>A	c.(121-123)Cat>Aat	p.H41N	CTCFL_ENST00000371196.2_Missense_Mutation_p.H41N|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.H41N|CTCFL_ENST00000422869.2_Missense_Mutation_p.H41N|CTCFL_ENST00000423479.2_Missense_Mutation_p.H41N|CTCFL_ENST00000433949.2_Missense_Mutation_p.H41N|CTCFL_ENST00000422109.2_Missense_Mutation_p.H41N|CTCFL_ENST00000429804.2_Missense_Mutation_p.H41N|CTCFL_ENST00000432255.2_Missense_Mutation_p.H41N|CTCFL_ENST00000539382.1_Intron			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	41					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.H41N(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGGCTCCGATGGTCTTTCTCT	0.562000													132	406					1.12733e-80	2.22675e-80	0.870114	1	0
BBS9	27241	broad.mit.edu	37	7	33217115	33217115	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:33217115G>T	ENST00000242067.6	+	5	875	c.354G>T	c.(352-354)ggG>ggT	p.G118G	BBS9_ENST00000396127.2_Silent_p.G118G|BBS9_ENST00000355070.2_Silent_p.G118G|BBS9_ENST00000354265.4_Silent_p.G118G|BBS9_ENST00000350941.3_Silent_p.G118G|BBS9_ENST00000425508.2_Silent_p.G73G	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	118					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.G118G(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGGAACATGGGAACCAATGTC	0.338000									Bardet-Biedl syndrome				9	119					0.00448238	0.00466963	0.307466	1	0
BCO2	83875	broad.mit.edu	37	11	112065407	112065407	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:112065407G>T	ENST00000357685.5	+	5	800	c.665G>T	c.(664-666)gGa>gTa	p.G222V	BCO2_ENST00000532593.1_Missense_Mutation_p.G117V|BCO2_ENST00000438022.1_Missense_Mutation_p.G188V|BCO2_ENST00000526088.1_Missense_Mutation_p.G188V|BCO2_ENST00000393032.2_Missense_Mutation_p.G188V|SDHD_ENST00000532612.1_Intron|BCO2_ENST00000531169.1_Missense_Mutation_p.G188V|BCO2_ENST00000361053.4_Intron			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	222					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G222V(1)		NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GCTGTGAATGGAGCAACTGCA	0.383000													23	133					3.6726e-16	5.44747e-16	0.667858	1	0
VAV3	10451	broad.mit.edu	37	1	108138841	108138841	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:108138841G>T	ENST00000370056.4	-	25	2617	c.2343C>A	c.(2341-2343)ggC>ggA	p.G781G	VAV3_ENST00000527011.1_Silent_p.G781G|VAV3_ENST00000544443.1_Silent_p.G185G|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000415432.2_Silent_p.G221G	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	781					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.G221G(1)|p.G781G(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TACAGCTGTTGCCTGCTCTAT	0.368000													74	177					1.71382e-40	3.23316e-40	0.870114	1	0
ITGAV	3685	broad.mit.edu	37	2	187506203	187506203	+	Silent	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:187506203A>G	ENST00000261023.3	+	12	1321	c.1047A>G	c.(1045-1047)ctA>ctG	p.L349L	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.L313L|ITGAV_ENST00000433736.2_Silent_p.L303L	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	349					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	p.L349L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CAGTGTCTCTACAGAGAGCTT	0.502000													32	186					0	0	0.760397	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563697	176563697	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:176563697A>T	ENST00000367662.3	+	3	2121	c.957A>T	c.(955-957)aaA>aaT	p.K319N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.K319N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	319					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.K319N(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCAGTGACAAAGGCTGGGCCC	0.537000													19	63					0	0	0.706142	0	0
C10orf90	118611	broad.mit.edu	37	10	128202476	128202476	+	Translation_Start_Site	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:128202476G>C	ENST00000356858.3	-	0	765				C10orf90_ENST00000284694.7_Missense_Mutation_p.Q19E|C10orf90_ENST00000454341.1_Missense_Mutation_p.Q19E|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_De_novo_Start_OutOfFrame|C10orf90_ENST00000544758.1_Missense_Mutation_p.Q116E			Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90									p.Q19E(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGGGCAATTTGATCTCTTCTA	0.343000													75	87					0	0	0.870114	0	0
BAGE2	85319	broad.mit.edu	37	21	11039159	11039159	+	RNA	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr21:11039159G>C	ENST00000470054.1	-	0	1044									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTCATGTGGGGACACTAAGGT	0.398000													48	456					0	0	0.870114	0	0
MUC6	4588	broad.mit.edu	37	11	1026437	1026437	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:1026437G>T	ENST00000421673.2	-	20	2486	c.2436C>A	c.(2434-2436)ggC>ggA	p.G812G		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	812					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.G812G(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTCGTAGAGGCCCTCGGCGC	0.667000													8	13					0.000157383	0.000169033	0.278610	1	0
FMO3	2328	broad.mit.edu	37	1	171061893	171061893	+	Missense_Mutation	SNP	G	G	A	rs72549320		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:171061893G>A	ENST00000367755.4	+	2	205	c.94G>A	c.(94-96)Gag>Aag	p.E32K	FMO3_ENST00000392085.2_Missense_Mutation_p.E32K|FMO3_ENST00000534514.1_3'UTR|FMO3_ENST00000542847.1_5'UTR|FMO3_ENST00000538429.1_Missense_Mutation_p.E32K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	32			E -> K (in TMAU).		xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.E32K(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACCTGCTTTGAGAAGAGCAA	0.502000													19	49					0	0	0.557998	0	0
CLVS2	134829	broad.mit.edu	37	6	123376978	123376978	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:123376978A>C	ENST00000275162.4	+	5	2038	c.703A>C	c.(703-705)Agt>Cgt	p.S235R	CLVS2_ENST00000368438.1_Missense_Mutation_p.S89R	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	235	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.S235R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CAACCTGAACAGTCTACACCA	0.453000													39	177					0	0	0.870114	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720932	140720932	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:140720932C>A	ENST00000394576.2	+	1	2394	c.2394C>A	c.(2392-2394)ctC>ctA	p.L798L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.L798L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCTCTACTCGAAGAAGAAA	0.413000													21	100					2.4624e-09	3.11409e-09	0.575678	1	0
FLT1	2321	broad.mit.edu	37	13	29008254	29008254	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:29008254G>T	ENST00000282397.4	-	5	868	c.617C>A	c.(616-618)aCc>aAc	p.T206N	FLT1_ENST00000539099.1_Missense_Mutation_p.T206N|FLT1_ENST00000541932.1_Missense_Mutation_p.T206N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	206	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.T206N(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGCTTCACAGGTCAGAAGCCC	0.418000													57	79					4.96213e-28	8.66473e-28	0.870114	1	0
STAG3	10734	broad.mit.edu	37	7	99802969	99802969	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:99802969C>T	ENST00000426455.1	+	29	3607	c.3200C>T	c.(3199-3201)cCt>cTt	p.P1067L	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.P1067L|GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.P1009L			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1067					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.P1067L(1)		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)					GAGACCAGCCCTCAGGTCCTC	0.637000													42	62					0	0	0.870114	0	0
THOC2	57187	broad.mit.edu	37	X	122747510	122747510	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:122747510C>A	ENST00000245838.8	-	35	4530	c.4499G>T	c.(4498-4500)cGt>cTt	p.R1500L	THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.R1385L|THOC2_ENST00000355725.4_Missense_Mutation_p.R1500L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1500	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.R1421L(1)|p.R1500L(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTCCTCTTTACGTCTCTTGGT	0.373000													138	287					3.50799e-66	6.86121e-66	0.870114	1	0
USH2A	7399	broad.mit.edu	37	1	216256822	216256822	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:216256822G>A	ENST00000366943.2	-	26	5660	c.5274C>T	c.(5272-5274)aaC>aaT	p.N1758N	RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Silent_p.N1758N|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1758	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.N1758N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCCATCTTTGTTATAAACGA	0.299000										HNSCC(13;0.011)			68	202					0	0	0.870114	0	0
PRPF38B	55119	broad.mit.edu	37	1	109235396	109235396	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:109235396G>C	ENST00000370025.4	+	1	452	c.183G>C	c.(181-183)atG>atC	p.M61I	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.M61I|PRPF38B_ENST00000370021.1_5'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	61					mRNA processing|RNA splicing	spliceosomal complex		p.M61I(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TCAACCCCATGATCCTGACCA	0.582000													18	83					0	0	0.608945	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090691	22090691	+	RNA	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:22090691C>G	ENST00000542354.1	+	0	363																											AGATGAAAGACTCTGCCTCTT	0.468000													14	74					0	0	0.435327	0	0
THEG	51298	broad.mit.edu	37	19	375777	375777	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:375777G>A	ENST00000342640.4	-	1	236	c.194C>T	c.(193-195)cCc>cTc	p.P65L	THEG_ENST00000346878.2_Missense_Mutation_p.P65L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	65					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.P65L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCGGGGGGAAGCTCCTC	0.617000													67	154					0	0	0.870114	0	0
LRP8	7804	broad.mit.edu	37	1	53715182	53715182	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:53715182C>A	ENST00000306052.6	-	18	2824	c.2723G>T	c.(2722-2724)gGg>gTg	p.G908V	LRP8_ENST00000465675.1_Intron|LRP8_ENST00000371454.2_Intron|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000347547.2_Missense_Mutation_p.G738V	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	908					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	p.G908V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						tctggtctccccaagacaggg	0.602000													11	20					9.70103e-10	1.23468e-09	0.361761	1	0
OR2A25	392138	broad.mit.edu	37	7	143771977	143771977	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:143771977G>T	ENST00000408898.2	+	1	703	c.665G>T	c.(664-666)tGt>tTt	p.C222F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C222F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CATATTCTATGTGCCATTCTA	0.488000													28	172					7.41945e-09	9.25113e-09	0.693898	1	0
CLEC4F	165530	broad.mit.edu	37	2	71043138	71043138	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:71043138G>C	ENST00000272367.2	-	4	1451	c.1375C>G	c.(1375-1377)Caa>Gaa	p.Q459E	CLEC4F_ENST00000426626.1_Missense_Mutation_p.Q459E	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	459					endocytosis	integral to membrane	receptor activity|sugar binding	p.Q459E(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGGTTCTTTGTAGCTGTTCC	0.507000													15	94					0	0	0.479597	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740261	140740261	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:140740261G>T	ENST00000522605.1	+	1	559	c.559G>T	c.(559-561)Gat>Tat	p.D187Y	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.D187Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGACTCCAGATGGTCGTAA	0.458000													11	99					6.40141e-05	6.94066e-05	0.387290	1	0
SULT1B1	27284	broad.mit.edu	37	4	70599131	70599131	+	Splice_Site	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:70599131C>A	ENST00000310613.2	-	6	894	c.597_splice	c.e6+1	p.E199_splice		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	199					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.E199D(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ACCATTTTACCTCTTTCATAT	0.358000													79	170					9.37156e-40	1.7638e-39	0.870114	1	0
NTSR1	4923	broad.mit.edu	37	20	61340877	61340877	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:61340877C>A	ENST00000370501.3	+	1	689	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	106						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.G106G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ACCACCTGGGCAGCCTGGCGC	0.667000													17	40					3.52763e-06	3.99298e-06	0.520397	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971107	21971107	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:21971107T>A	ENST00000304494.5	-	2	521	c.251A>T	c.(250-252)gAc>gTc	p.D84V	CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33V|CDKN2A_ENST00000530628.2_Silent_p.R98R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Silent_p.R139R|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33V|CDKN2A_ENST00000579755.1_Silent_p.R98R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	84			D -> E (in a bladder tumor).|D -> H (in non-small cell lung carcinoma).|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> Y (in CMM2; also found in a lung and a prostate tumor; dbSNP:rs11552822).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D84V(6)|p.D84G(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.R139R(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGGGCAGCGTCGTGCACGGG	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	6					0	0	0.217242	0	0
OR51V1	283111	broad.mit.edu	37	11	5221702	5221702	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:5221702G>C	ENST00000321255.1	-	1	228	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L77V(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTCAGTGAGGGCCAGCATG	0.537000													31	48					0	0	0.840704	0	0
HADHB	3032	broad.mit.edu	37	2	26502035	26502035	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:26502035G>T	ENST00000317799.5	+	9	767	c.663G>T	c.(661-663)gaG>gaT	p.E221D	HADHB_ENST00000545822.1_Missense_Mutation_p.E199D|HADHB_ENST00000537713.1_Missense_Mutation_p.E206D|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	221					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	p.E221D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACCAGTGAGACCATGGGCC	0.532000													23	138					9.95505e-16	1.46301e-15	0.624587	1	0
MYO5A	4644	broad.mit.edu	37	15	52664516	52664516	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:52664516C>A	ENST00000399231.3	-	21	2865	c.2622G>T	c.(2620-2622)cgG>cgT	p.R874R	MYO5A_ENST00000358212.6_Silent_p.R874R|MYO5A_ENST00000399233.2_Silent_p.R874R|MYO5A_ENST00000553916.1_Silent_p.R874R|MYO5A_ENST00000356338.6_Silent_p.R874R	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	874	IQ 5.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R874R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCAGCCAGCCCCGGACTCGCT	0.522000													15	26					7.45023e-12	1.0111e-11	0.592651	1	0
SLC22A11	55867	broad.mit.edu	37	11	64331817	64331817	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:64331817G>T	ENST00000301891.4	+	5	1233	c.859G>T	c.(859-861)Ggc>Tgc	p.G287C	SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.G287C|SLC22A11_ENST00000377581.3_Missense_Mutation_p.G287C	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	287					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	p.G287C(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GATTATTAAGGGCAAACCAGA	0.587000													11	43					3.07112e-06	3.48613e-06	0.387290	1	0
TRPS1	7227	broad.mit.edu	37	8	116632061	116632061	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:116632061C>A	ENST00000395715.3	-	3	841	c.264G>T	c.(262-264)ttG>ttT	p.L88F	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.L75F|TRPS1_ENST00000520276.1_Missense_Mutation_p.L79F|TRPS1_ENST00000220888.5_Missense_Mutation_p.L75F	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	75					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L88F(1)|p.L75F(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGCGCTTTTCAAGTCCTTCT	0.443000									Langer-Giedion syndrome				103	105					1.66795e-42	3.1691e-42	0.870114	1	0
TRBV6-9	28598	broad.mit.edu	37	7	142104318	142104318	+	RNA	SNP	T	T	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:142104318T>C	ENST00000390379.1	-	0	146																											AGGACAAGTATCCATGGTTCA	0.522000													63	110					0	0	0.870114	0	0
ATP9B	374868	broad.mit.edu	37	18	77107846	77107846	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr18:77107846A>C	ENST00000426216.2	+	24	2776	c.2759A>C	c.(2758-2760)cAc>cCc	p.H920P	ATP9B_ENST00000543761.1_Missense_Mutation_p.H241P|ATP9B_ENST00000307671.7_Missense_Mutation_p.H920P	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	920					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.H920P(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTCATGGTGCACGGGCGGAAC	0.607000													29	35					0	0	0.779181	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806724	6806724	+	Silent	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:6806724A>G	ENST00000307401.4	+	1	477	c.456A>G	c.(454-456)gcA>gcG	p.A152A		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A152A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGATCCTGGCATCCCTAAGTG	0.522000													13	137					0	0	0.435327	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066560	9066560	+	Missense_Mutation	SNP	C	C	G	rs139823470	byFrequency	TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:9066560C>G	ENST00000382496.5	-	17	2937	c.2272G>C	c.(2272-2274)Gac>Cac	p.D758H		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	758	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.D758H(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTGGTGCCGTCGCTAGAACAG	0.512000													31	144					0	0	0.859065	0	0
PTK7	5754	broad.mit.edu	37	6	43127622	43127622	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:43127622G>T	ENST00000230419.4	+	19	3191	c.2970G>T	c.(2968-2970)tgG>tgT	p.W990C	PTK7_ENST00000345201.2_Missense_Mutation_p.W950C|PTK7_ENST00000349241.2_Missense_Mutation_p.W860C|PTK7_ENST00000352931.2_Missense_Mutation_p.W934C|PTK7_ENST00000481273.1_Missense_Mutation_p.W998C	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	990	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.W990C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGATGTCTGGGCCTTCGGTG	0.592000													52	71					2.23044e-30	3.95531e-30	0.870114	1	0
EPHB3	2049	broad.mit.edu	37	3	184298540	184298540	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:184298540G>T	ENST00000330394.2	+	13	2864	c.2412G>T	c.(2410-2412)tgG>tgT	p.W804C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	804	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.W804C(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCATCCGCTGGACTGCCCCAG	0.632000													28	46					6.04164e-23	9.96122e-23	0.750413	1	0
USP28	57646	broad.mit.edu	37	11	113675615	113675615	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:113675615C>A	ENST00000003302.4	-	20	2622	c.2554G>T	c.(2554-2556)Gat>Tat	p.D852Y	USP28_ENST00000260188.5_Missense_Mutation_p.D820Y|USP28_ENST00000545540.1_Missense_Mutation_p.D695Y|USP28_ENST00000544967.1_Missense_Mutation_p.D528Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	852					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D852Y(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGATTTTTATCTGCAAACTGT	0.443000													26	92					2.12542e-12	2.94459e-12	0.706142	1	0
PTPRD	5789	broad.mit.edu	37	9	8465465	8465465	+	Splice_Site	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:8465465C>A	ENST00000381196.4	-	29	4258		c.e29+1		PTPRD_ENST00000397606.3_Splice_Site|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000397617.3_Splice_Site|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000537002.1_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site|PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.?(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATTAACTTACAGACTCTGCA	0.383000										TSP Lung(15;0.13)			18	176					3.51602e-12	4.84591e-12	0.575678	1	0
TP53RK	112858	broad.mit.edu	37	20	45315857	45315857	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:45315857T>A	ENST00000372102.3	-	2	327	c.302A>T	c.(301-303)cAg>cTg	p.Q101L				Q96S44	PRPK_HUMAN	TP53 regulating kinase	0	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P99P(1)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				AAAAGACAACTGGGGCAGATA	0.363000													149	366					0	0	0.870114	0	0
CSMD3	114788	broad.mit.edu	37	8	113349007	113349007	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:113349007C>A	ENST00000297405.5	-	44	7137	c.6893G>T	c.(6892-6894)gGg>gTg	p.G2298V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2258V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2228V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2194V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2298	CUB 13.					integral to membrane|plasma membrane		p.G2298V(1)|p.G2258V(1)		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						ATCAGGATACCCAGGAGAATA	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	166					9.95505e-16	1.46301e-15	0.624587	1	0
EPC2	26122	broad.mit.edu	37	2	149542268	149542268	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:149542268G>C	ENST00000258484.6	+	13	2083	c.2049G>C	c.(2047-2049)atG>atC	p.M683I		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	683					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.M683I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CCACCAATATGGCTTTATCAT	0.393000													12	108					0	0	0.411799	0	0
ARL4D	379	broad.mit.edu	37	17	41477680	41477680	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:41477680G>T	ENST00000320033.4	+	2	787	c.580G>T	c.(580-582)Gct>Tct	p.A194S		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	194					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	p.A194S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GAAGAAGGCAGCTCGGGGTGG	0.617000													11	23					2.68362e-12	3.71149e-12	0.411799	1	0
MVP	9961	broad.mit.edu	37	16	29857194	29857194	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:29857194C>G	ENST00000357402.5	+	12	2170	c.2032C>G	c.(2032-2034)Cag>Gag	p.Q678E	MVP_ENST00000395353.1_Missense_Mutation_p.Q678E	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	678					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	p.Q678E(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCATGAGGCTCAGAGACTGGA	0.642000													6	51					0	0	0.387290	0	0
USP48	84196	broad.mit.edu	37	1	22032301	22032301	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:22032301G>A	ENST00000308271.9	-	19	2951	c.2303C>T	c.(2302-2304)tCa>tTa	p.S768L	USP48_ENST00000400301.1_Missense_Mutation_p.S768L|USP48_ENST00000374732.3_Missense_Mutation_p.S306L|USP48_ENST00000529637.1_Missense_Mutation_p.S780L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	768	DUSP 3.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.S768L(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GTTCCCAACTGATGACACAGG	0.408000													11	36					0	0	0.361761	0	0
PAK7	57144	broad.mit.edu	37	20	9546888	9546888	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:9546888G>T	ENST00000378429.3	-	6	1680	c.1134C>A	c.(1132-1134)caC>caA	p.H378Q	PAK7_ENST00000353224.5_Missense_Mutation_p.H378Q|PAK7_ENST00000378423.1_Missense_Mutation_p.H378Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	378	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.H378Q(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGTGGCTTTGTGGTACCCAG	0.572000													76	199					4.03997e-35	7.39426e-35	0.870114	1	0
RGS20	8601	broad.mit.edu	37	8	54866724	54866724	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:54866724G>A	ENST00000297313.3	+	5	924	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	RGS20_ENST00000522225.1_Missense_Mutation_p.E12K|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000344277.6_Missense_Mutation_p.E163K|RGS20_ENST00000276500.4_Missense_Mutation_p.E131K	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	278	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.E278K(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TGCATTCCGTGAATTCCTCCG	0.448000													120	119					0	0	0.870114	0	0
SCN11A	11280	broad.mit.edu	37	3	38951598	38951598	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:38951598G>T	ENST00000302328.3	-	8	1258	c.1060C>A	c.(1060-1062)Cgg>Agg	p.R354R	SCN11A_ENST00000456224.3_Silent_p.R354R|SCN11A_ENST00000444237.2_Silent_p.R354R|SCN11A_ENST00000450244.1_Silent_p.R354R	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	354					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R354R(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTCATCAGCCGGAACATGGCA	0.408000													24	59					1.5548e-18	2.38602e-18	0.693898	1	0
TDO2	6999	broad.mit.edu	37	4	156841131	156841131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:156841131G>T	ENST00000536354.2	+	12	1274	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	404					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	p.E404*(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CAGCAGTGATGAATCAGATTA	0.343000													11	107					4.68919e-08	5.69554e-08	0.361761	1	0
TTN	7273	broad.mit.edu	37	2	179428592	179428592	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:179428592C>T	ENST00000589042.1	-	326	82491	c.82267G>A	c.(82267-82269)Gag>Aag	p.E27423K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24855K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18358K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18483K|TTN_ENST00000342175.6_Missense_Mutation_p.E18550K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25782K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25782							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E24855K(1)|p.E18358K(1)|p.E18483K(1)|p.E18550K(1)|p.E24853K(1)		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)			GCCTGTACCTCAGTTGAAACC	0.433000													26	134					0	0	0.729181	0	0
MARCH1	55016	broad.mit.edu	37	4	164534479	164534479	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:164534479G>T	ENST00000503008.1	-	5	1205	c.229C>A	c.(229-231)Cag>Aag	p.Q77K	MARCH1_ENST00000339875.5_Missense_Mutation_p.Q60K|MARCH1_ENST00000514618.1_Missense_Mutation_p.Q77K|MARCH1_ENST00000274056.7_Missense_Mutation_p.Q77K	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	77					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q60K(1)|p.Q77K(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGATGTCCTGAGTGGATGGA	0.428000													52	56					7.62596e-35	1.39257e-34	0.870114	1	0
KRT73	319101	broad.mit.edu	37	12	53009975	53009975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:53009975C>A	ENST00000305748.3	-	2	671	c.637G>T	c.(637-639)Gaa>Taa	p.E213*		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	213	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.E213*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCACCACTTCGCGCACGCTC	0.627000													26	121					1.1804e-14	1.70028e-14	0.667858	1	0
ITGAM	3684	broad.mit.edu	37	16	31332582	31332582	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:31332582C>T	ENST00000544665.3	+	15	1802	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	ITGAM_ENST00000287497.8_Silent_p.L576L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	576					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.L576L(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCTCCAAGCTCTCTCCCAGGC	0.552000													124	272					0	0	0.870114	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174652687	174652687	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:174652687G>T	ENST00000251507.4	+	15	2026	c.1852G>T	c.(1852-1854)Ggg>Tgg	p.G618W		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	618	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	p.G618W(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TGAAGACATTGGGTACTGTCA	0.373000													77	215					2.13431e-38	3.9887e-38	0.870114	1	0
RYR2	6262	broad.mit.edu	37	1	237656366	237656366	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:237656366G>T	ENST00000366574.2	+	19	2257	c.1940G>T	c.(1939-1941)cGt>cTt	p.R647L	RYR2_ENST00000360064.6_Missense_Mutation_p.R645L|RYR2_ENST00000542537.1_Missense_Mutation_p.R631L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	647	B30.2/SPRY 1.				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	p.R645L(1)		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)			TTGCAGACACGTCTTGTGAAC	0.438000													7	44					1.12685e-05	1.25766e-05	0.307466	1	0
HSD17B4	3295	broad.mit.edu	37	5	118824886	118824886	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:118824886G>T	ENST00000504811.1	+	10	881		c.e10-1		HSD17B4_ENST00000256216.6_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	p.?(2)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CTTTATTTCAGATCTTGTGGA	0.358000													25	118					7.38237e-10	9.42581e-10	0.706142	1	0
ITPR2	3709	broad.mit.edu	37	12	26839527	26839527	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:26839527C>A	ENST00000381340.3	-	11	1451	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	345	MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.Q345H(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTCCCCTGCCTGGCGTTTTT	0.413000													104	224					1.04275e-50	2.00993e-50	0.870114	1	0
GJA9	81025	broad.mit.edu	37	1	39341359	39341359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:39341359G>A	ENST00000454994.2	-	2	688	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000360786.3_Nonsense_Mutation_p.Q138*|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000357771.3_Nonsense_Mutation_p.Q138*			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	138					cell communication	connexon complex|integral to membrane		p.Q138*(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTCTCCAGCTGACAAAGCTCT	0.443000													34	270					0	0	0.796494	0	0
UHRF2	115426	broad.mit.edu	37	9	6486881	6486881	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:6486881G>T	ENST00000276893.5	+	9	1621	c.1453G>T	c.(1453-1455)Ggg>Tgg	p.G485W	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	485	Methyl-CpG binding and interaction with HDAC1.|YDG.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.G485W(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AAGTAATGATGGGGCTTATTC	0.413000													13	57					1.99824e-07	2.39069e-07	0.520397	1	0
SLITRK4	139065	broad.mit.edu	37	X	142716612	142716612	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:142716612G>T	ENST00000381779.4	-	2	2538	c.2313C>A	c.(2311-2313)agC>agA	p.S771R	SLITRK4_ENST00000356928.1_Missense_Mutation_p.S771R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.S771R	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	771						integral to membrane		p.S771R(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGACACCTATGCTATTATACT	0.388000													97	185					9.86815e-39	1.84854e-38	0.870114	1	0
DFNB31	25861	broad.mit.edu	37	9	117185751	117185751	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:117185751C>T	ENST00000362057.3	-	7	1637	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	DFNB31_ENST00000374059.3_Missense_Mutation_p.R139H|DFNB31_ENST00000265134.6_Missense_Mutation_p.R107H	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	490					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		p.R490H(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGTCGAAGCGTTCTAGGTC	0.617000													17	109					0	0	0.557998	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074281	143074281	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:143074281C>A	ENST00000367603.2	-	10	8046	c.7304G>T	c.(7303-7305)aGc>aTc	p.S2435I	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S2435I|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S2435I	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S2435I(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGGATCTTTGCTTTCCTCTGT	0.388000													46	390					9.58827e-17	1.43285e-16	0.870114	1	0
IFNA21	3452	broad.mit.edu	37	9	21166379	21166379	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:21166379G>A	ENST00000380225.1	-	1	280	c.233C>T	c.(232-234)tCt>tTt	p.S78F		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	78					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.S78F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATGGAGGACAGAGATGGCTTG	0.483000													61	141					0	0	0.870114	0	0
DIP2B	57609	broad.mit.edu	37	12	51034617	51034617	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:51034617G>T	ENST00000301180.5	+	3	317	c.283G>T	c.(283-285)Gat>Tat	p.D95Y		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	95						nucleus	catalytic activity|transcription factor binding	p.D95Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGGAGCCAGGGATGAACGATA	0.478000													7	70					0.248553	0.250752	0.248553	1	0
MMP12	4321	broad.mit.edu	37	11	102742386	102742386	+	RNA	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:102742386C>G	ENST00000532855.1	-	0	659							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G188A(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AATGCCAGATCCAGGTCCAAA	0.423000													4	10					0	0	0.150653	0	0
DBX1	120237	broad.mit.edu	37	11	20178654	20178654	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:20178654G>T	ENST00000524983.2	-	3	889	c.601C>A	c.(601-603)Cag>Aag	p.Q201K	DBX1_ENST00000227256.3_Missense_Mutation_p.Q201K			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	201					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F200_Q201>LK(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TTCTGCTTCTGGAACATCTTC	0.652000													5	34					4.096e-09	5.14741e-09	0.217242	1	0
MYLK	4638	broad.mit.edu	37	3	123444857	123444857	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:123444857G>T	ENST00000360772.3	-	13	1963	c.1585C>A	c.(1585-1587)Cag>Aag	p.Q529K	MYLK_ENST00000360304.3_Missense_Mutation_p.Q529K|MYLK_ENST00000359169.1_Missense_Mutation_p.Q529K|MYLK_ENST00000346322.5_Missense_Mutation_p.Q460K|MYLK_ENST00000475616.1_Missense_Mutation_p.Q529K			Q15746	MYLK_HUMAN	myosin light chain kinase	529	Ig-like C2-type 4.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.Q529K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACAAAATCCTGGCCCTCAATA	0.607000													12	36					2.27111e-07	2.70904e-07	0.411799	1	0
MAP1S	55201	broad.mit.edu	37	19	17838467	17838467	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:17838467G>T	ENST00000324096.4	+	5	2425	c.2274G>T	c.(2272-2274)gcG>gcT	p.A758A	MAP1S_ENST00000544059.2_Silent_p.A732A|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	758	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.A758A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGGCACCTGCGTCCCCCGGCA	0.682000													11	15					7.03913e-09	8.80442e-09	0.411799	1	0
TOP3A	7156	broad.mit.edu	37	17	18194199	18194199	+	Missense_Mutation	SNP	C	C	T	rs144590444		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:18194199C>T	ENST00000321105.5	-	12	1638	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	TOP3A_ENST00000542570.1_Missense_Mutation_p.R380Q|TOP3A_ENST00000540524.1_Missense_Mutation_p.R5Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	475					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.R475Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CAGATAGTTTCGGGCCAGAAT	0.537000													33	51					0	0	0.760397	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	53					0	0	0.184627	0	0
TNC	3371	broad.mit.edu	37	9	117810677	117810677	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:117810677G>T	ENST00000350763.4	-	16	5125	c.4714C>A	c.(4714-4716)Ccc>Acc	p.P1572T	TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000341037.4_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.P1208T|TNC_ENST00000537320.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1572	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.P1572T(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AATTCCTGGGGGTCCAGCAGC	0.517000													15	63					2.31682e-05	2.56425e-05	0.479597	1	0
LHFPL5	222662	broad.mit.edu	37	6	35773737	35773737	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:35773737C>T	ENST00000360215.1	+	1	667	c.290C>T	c.(289-291)gCc>gTc	p.A97V	LHFPL5_ENST00000373853.1_Missense_Mutation_p.A97V	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	97						integral to membrane		p.A97F(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TTCAAGACTGCCATGTTCTTT	0.532000													82	92					0	0	0.870114	0	0
CCNB3	85417	broad.mit.edu	37	X	50052963	50052963	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:50052963G>T	ENST00000376042.1	+	6	2092	c.1794G>T	c.(1792-1794)atG>atT	p.M598I	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M598I|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	598					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.M598I(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGGGAAGATGTCCCACTTAA	0.423000													13	43					0.00136819	0.00143283	0.411799	1	0
GDF9	2661	broad.mit.edu	37	5	132199862	132199862	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:132199862G>A	ENST00000378673.2	-	2	1230	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	GDF9_ENST00000464378.1_5'UTR|GDF9_ENST00000296875.2_Missense_Mutation_p.R122W			O60383	GDF9_HUMAN	growth differentiation factor 9	122					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R122W(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTTGTGCCGGGTACAGGGG	0.463000													18	137					0	0	0.557998	0	0
DPP10	57628	broad.mit.edu	37	2	116447469	116447469	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:116447469C>T	ENST00000410059.1	+	7	1028	c.548C>T	c.(547-549)gCg>gTg	p.A183V	DPP10_ENST00000393147.2_Missense_Mutation_p.A187V|DPP10_ENST00000310323.8_Missense_Mutation_p.A176V|DPP10_ENST00000409163.1_Missense_Mutation_p.A133V|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	183					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.A176V(1)|p.A183V(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGCAGTACGCGGCCTGGGGT	0.443000													8	156					0	0	0.278610	0	0
NPVF	64111	broad.mit.edu	37	7	25266430	25266430	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:25266430C>T	ENST00000222674.2	-	2	400	c.354G>A	c.(352-354)gtG>gtA	p.V118V		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	118					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	p.V118V(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TCACGAGGCTCACCTCCATAT	0.493000													32	190					0	0	0.796494	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532569	71532569	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:71532569G>T	ENST00000265382.3	+	9	1182	c.877G>T	c.(877-879)Gat>Tat	p.D293Y	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.D293Y	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	293	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	p.D293Y(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAATGTGCCTGATGCTAAGCG	0.473000													62	244					2.69953e-25	4.56404e-25	0.870114	1	0
PTPRB	5787	broad.mit.edu	37	12	70989842	70989842	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:70989842G>A	ENST00000334414.6	-	5	1289	c.1245C>T	c.(1243-1245)acC>acT	p.T415T	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Silent_p.T197T|PTPRB_ENST00000551525.1_Silent_p.T414T|PTPRB_ENST00000538708.1_Silent_p.T197T|PTPRB_ENST00000550358.1_Silent_p.T415T|PTPRB_ENST00000261266.5_Silent_p.T197T|PTPRB_ENST00000451516.2_Silent_p.T197T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	197	Fibronectin type-III 5.		D -> E (in dbSNP:rs2165627).		angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T197T(2)|p.T415T(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGATCCATTGGTATAAACTG	0.333000													10	33					0	0	0.387290	0	0
SAMD9	54809	broad.mit.edu	37	7	92734591	92734591	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:92734591C>T	ENST00000379958.2	-	3	1089	c.820G>A	c.(820-822)Gac>Aac	p.D274N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	274						cytoplasm		p.D274N(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTTGATGGTCTTCAAAATAC	0.378000													19	202					0	0	0.575678	0	0
NTM	50863	broad.mit.edu	37	11	132184465	132184465	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:132184465G>T	ENST00000374786.1	+	6	1281	c.802G>T	c.(802-804)Ggg>Tgg	p.G268W	NTM_ENST00000425719.2_Missense_Mutation_p.G268W|NTM_ENST00000374784.1_Missense_Mutation_p.G268W|NTM_ENST00000427481.2_Missense_Mutation_p.G259W|NTM_ENST00000539799.1_Missense_Mutation_p.G268W|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.G268W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	268	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.G268W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGGAAAGAAAGGGGTGAAAGT	0.418000													17	101					2.94398e-08	3.6143e-08	0.557998	1	0
THBS2	7058	broad.mit.edu	37	6	169626293	169626293	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:169626293C>A	ENST00000366787.3	-	17	2769	c.2520G>T	c.(2518-2520)ctG>ctT	p.L840L	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	840					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.L840L(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGTTGTGCACCAGGGGGCAGT	0.607000													8	34					0.000157383	0.000169033	0.278610	1	0
CDH7	1005	broad.mit.edu	37	18	63489400	63489400	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr18:63489400G>T	ENST00000536984.2	+	5	1403	c.709G>T	c.(709-711)Ggt>Tgt	p.G237C	CDH7_ENST00000397968.2_Missense_Mutation_p.G237C|CDH7_ENST00000323011.3_Missense_Mutation_p.G237C			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	237	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G237C(2)		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)				GGATATGGTTGGTCAAAATGG	0.418000													44	49					2.45108e-15	3.5758e-15	0.840704	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140730944	140730944	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:140730944G>T	ENST00000523390.1	+	1	1117	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1												p.G373W(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGATTCTGGGCAAAATGG	0.448000													4	21					0.00909568	0.00942643	0.150653	1	0
MAPK3	5595	broad.mit.edu	37	16	30129407	30129407	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:30129407C>A	ENST00000484663.1	-	3	1412	c.279G>T	c.(277-279)acG>acT	p.T93T	MAPK3_ENST00000263025.4_Silent_p.T207T|MAPK3_ENST00000395202.1_Silent_p.T207T|MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000403394.1_Silent_p.T207T|MAPK3_ENST00000395199.3_Silent_p.T207T|MAPK3_ENST00000322266.5_Silent_p.T207T			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	207	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	p.T207T(1)								Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GGTACCAGCGCGTAGCCACAT	0.587000													9	30					1.49906e-05	1.66377e-05	0.457914	1	0
TUBGCP6	85378	broad.mit.edu	37	22	50656678	50656678	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr22:50656678A>G	ENST00000248846.5	-	23	5212	c.5108T>C	c.(5107-5109)gTg>gCg	p.V1703A	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1703					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.V1703A(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGGTCGCCCACGGTGGCCAA	0.632000													22	35					0	0	0.654019	0	0
LYST	1130	broad.mit.edu	37	1	235993715	235993715	+	Translation_Start_Site	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:235993715C>T	ENST00000389794.3	-	3	177	c.3G>A	c.(1-3)atG>atA	p.M1I	LYST_ENST00000536965.1_Start_Codon_SNP_p.M1I|LYST_ENST00000389793.2_Start_Codon_SNP_p.M1I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.M1I(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTCGGTGCTCATGACCGAGC	0.393000													21	49					0	0	0.624587	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122050	90122050	+	RNA	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:90122050G>T	ENST00000483379.1	+	0	449																											CAGTGGATCTGGGACAGAATT	0.483000													47	174					6.08268e-21	9.59284e-21	0.870114	1	0
ZNF385D	79750	broad.mit.edu	37	3	21478546	21478546	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:21478546C>A	ENST00000281523.2	-	5	1107	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	197						nucleus	nucleic acid binding|zinc ion binding	p.E197*(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCCTTTTCTTCCTCGGTCTCA	0.498000													55	125					7.45626e-27	1.28512e-26	0.870114	1	0
PDE8A	5151	broad.mit.edu	37	15	85657227	85657227	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:85657227G>A	ENST00000310298.4	+	15	1561	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	PDE8A_ENST00000394553.1_Missense_Mutation_p.D437N|PDE8A_ENST00000557957.1_Missense_Mutation_p.D365N|PDE8A_ENST00000339708.5_Missense_Mutation_p.D391N			O60658	PDE8A_HUMAN	phosphodiesterase 8A	437					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.D437N(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGCTAAAGATGATGATCCCCA	0.453000													40	85					0	0	0.827153	0	0
CFAP54	144535	broad.mit.edu	37	12	97093849	97093849	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:97093849A>C	ENST00000524981.3	+	13	1805	c.1805A>C	c.(1804-1806)tAt>tCt	p.Y602S				Q6ZTY8	CL063_HUMAN		576								p.Y576S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CCTGCAGGCTATAAAGCCACT	0.353000													21	178					0	0	0.608945	0	0
CCDC73	493860	broad.mit.edu	37	11	32634980	32634980	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:32634980C>T	ENST00000335185.5	-	16	2927	c.2884G>A	c.(2884-2886)Gat>Aat	p.D962N		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	962								p.D962N(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GGTCCAATATCCTTTCCAACA	0.299000													80	129					0	0	0.870114	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269287	30269287	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:30269287T>G	ENST00000378981.3	+	4	998	c.677T>G	c.(676-678)gTg>gGg	p.V226G	MAGEB1_ENST00000397550.1_Missense_Mutation_p.V226G|MAGEB1_ENST00000397548.2_Missense_Mutation_p.V226G	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	226	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TTCATGAATGTGTTGGGAGCC	0.488000													13	27					0	0	0.479597	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31713049	31713049	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:31713049C>T	ENST00000493662.2	+	9	826	c.770C>T	c.(769-771)tCa>tTa	p.S257L	MSH5_ENST00000534153.4_Missense_Mutation_p.S257L|MSH5_ENST00000375750.3_Missense_Mutation_p.S240L|MSH5_ENST00000482280.1_Intron|MSH5_ENST00000431848.2_Intron|MSH5_ENST00000375703.3_Missense_Mutation_p.S240L|MSH5_ENST00000375740.3_Missense_Mutation_p.S257L|MSH5_ENST00000375742.3_Missense_Mutation_p.S257L|MSH5_ENST00000375755.3_Missense_Mutation_p.S240L														p.S257L(1)|p.S240L(1)									TCTCACCCCTCAGTGTACAAA	0.473000													16	145					0	0	0.575678	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44611518	44611518	+	Missense_Mutation	SNP	C	C	T	rs146457545	by1000genomes	TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:44611518C>T	ENST00000273320.3	+	6	1345	c.916C>T	c.(916-918)Cct>Tct	p.P306S	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.P306S|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7									p.P306S(1)									TGGGGTGGTTCCTGGGGCAGC	0.438000													50	201					0	0	0.870114	0	0
DACH2	117154	broad.mit.edu	37	X	86068172	86068172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:86068172G>T	ENST00000373131.1	+	8	1553	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	DACH2_ENST00000373125.4_Nonsense_Mutation_p.E477*|DACH2_ENST00000510272.1_Nonsense_Mutation_p.E258*|DACH2_ENST00000508860.1_Nonsense_Mutation_p.E310*|DACH2_ENST00000477378.2_3'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	477	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.E464*(1)|p.E477*(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TCGCATCCAGGAGAAGCAGAT	0.393000													15	23					6.72482e-11	8.81184e-11	0.479597	1	0
FOCAD	54914	broad.mit.edu	37	9	20944668	20944668	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:20944668G>C	ENST00000380249.1	+	31	3814	c.3450G>C	c.(3448-3450)atG>atC	p.M1150I	FOCAD_ENST00000338382.6_Missense_Mutation_p.M1150I|FOCAD_ENST00000605086.1_Missense_Mutation_p.M586I	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1150						integral to membrane	binding	p.M1150I(1)									TGTCCCTCATGAGCCACAGCA	0.502000													6	78					0	0	0.278610	0	0
LRP1B	53353	broad.mit.edu	37	2	141665495	141665495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:141665495G>T	ENST00000389484.3	-	22	4442	c.3471C>A	c.(3469-3471)tgC>tgA	p.C1157*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1157	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C1157*(1)		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)		TTTTCCCATTGCAGAGTTTCT	0.438000										TSP Lung(27;0.18)			31	219					6.38683e-12	8.72721e-12	0.729181	1	0
TTN	7273	broad.mit.edu	37	2	179411766	179411766	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:179411766C>T	ENST00000589042.1	-	340	94710	c.94486G>A	c.(94486-94488)Gaa>Aaa	p.E31496K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28928K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22431K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22556K|TTN_ENST00000342175.6_Missense_Mutation_p.E22623K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29855K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29855	Ig-like 140.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E28926K(1)|p.E22431K(1)|p.E28928K(1)|p.E22623K(1)|p.E22556K(1)		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)			CTTGAAGCTTCGCTGGCCTTG	0.388000													7	286					0	0	0.278610	0	0
COL7A1	1294	broad.mit.edu	37	3	48630049	48630049	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:48630049G>A	ENST00000328333.8	-	7	1037	c.930C>T	c.(928-930)ctC>ctT	p.L310L	COL7A1_ENST00000454817.1_Silent_p.L310L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	310	Fibronectin type-III 1.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.L310L(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTTGGCGTAGAGGGCAATCA	0.632000													13	63					0	0	0.520397	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83820030	83820030	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:83820030C>A	ENST00000299633.4	-	5	1146	c.543G>T	c.(541-543)gaG>gaT	p.E181D		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		181					cell proliferation	nucleus	growth factor activity	p.E181D(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						CATCTCCACCCTCAGAGCTGC	0.418000													64	92					8.52622e-23	1.39425e-22	0.870114	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36154336	36154336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:36154336C>A	ENST00000258840.6	-	20	3106	c.2716G>T	c.(2716-2718)Gga>Tga	p.G906*	RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.G859*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.G872*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.G859*			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	859					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.G859*(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGACTACTTCCTCTTCTTGTC	0.403000													4	4					0.00909568	0.00942643	0.150653	1	0
TSKS	60385	broad.mit.edu	37	19	50249744	50249744	+	Silent	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:50249744G>C	ENST00000246801.3	-	6	1057	c.975C>G	c.(973-975)acC>acG	p.T325T	TSKS_ENST00000358830.3_Silent_p.T125T	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	325							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)		CTTCGATGCCGGTGAACAGCT	0.697000													13	26					0	0	0.479597	0	0
SCN10A	6336	broad.mit.edu	37	3	38835299	38835299	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:38835299C>A	ENST00000449082.2	-	1	202	c.203G>T	c.(202-204)gGt>gTt	p.G68V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	68					sensory perception	voltage-gated sodium channel complex		p.G68V(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGGAGCTCACCATAGAACTT	0.547000													54	180					6.4308e-24	1.06912e-23	0.870114	1	0
PTPRR	5801	broad.mit.edu	37	12	71054789	71054789	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:71054789T>A	ENST00000283228.2	-	12	2149	c.1697A>T	c.(1696-1698)cAg>cTg	p.Q566L	PTPRR_ENST00000549308.1_Missense_Mutation_p.Q321L|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Missense_Mutation_p.Q321L|PTPRR_ENST00000378778.1_Missense_Mutation_p.Q360L|PTPRR_ENST00000342084.4_Missense_Mutation_p.Q454L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	566	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q566L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CAGCATGAGCTGTAGGAGGGG	0.527000													14	45					0	0	0.500413	0	0
COL4A5	1287	broad.mit.edu	37	X	107802372	107802372	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:107802372C>T	ENST00000328300.6	+	3	464	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	COL4A5_ENST00000361603.2_Missense_Mutation_p.R74W	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	74	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.R74W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCGGGGCCTCGGGGACAAAA	0.463000									Alport syndrome with Diffuse Leiomyomatosis				27	122					0	0	0.717897	0	0
FRMD7	90167	broad.mit.edu	37	X	131261870	131261870	+	Translation_Start_Site	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:131261870C>T	ENST00000298542.4	-	1	178	c.3G>A	c.(1-3)atG>atA	p.M1I	FRMD7_ENST00000464296.1_Start_Codon_SNP_p.M1I|RP1-305B16.2_ENST00000513703.1_RNA	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	1					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.M1I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTAAATGTAGCATTCTCAGCG	0.458000													41	66					0	0	0.853193	0	0
FLNA	2316	broad.mit.edu	37	X	153590122	153590122	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:153590122C>A	ENST00000422373.1	-	20	3108	c.2860G>T	c.(2860-2862)Gat>Tat	p.D954Y	FLNA_ENST00000360319.4_Missense_Mutation_p.D954Y|FLNA_ENST00000344736.4_Missense_Mutation_p.D954Y|FLNA_ENST00000369850.3_Missense_Mutation_p.D954Y	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	954					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.D954Y(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGATGGGATCCCCTCCATAA	0.562000													22	45					1.5548e-18	2.38602e-18	0.693898	1	0
TTC14	151613	broad.mit.edu	37	3	180322691	180322691	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:180322691G>C	ENST00000412756.2	+	6	822	c.753G>C	c.(751-753)atG>atC	p.M251I	TTC14_ENST00000296015.4_Missense_Mutation_p.M251I|TTC14_ENST00000382584.4_Missense_Mutation_p.M251I	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	251							RNA binding	p.M251I(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAAATGTCATGCAGAGTTCCT	0.333000													31	74					0	0	0.769981	0	0
EFCAB1	79645	broad.mit.edu	37	8	49641660	49641660	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:49641660C>A	ENST00000433756.1	-	4	520	c.361G>T	c.(361-363)Gct>Tct	p.A121S	EFCAB1_ENST00000523092.1_Missense_Mutation_p.A121S|EFCAB1_ENST00000262103.3_Missense_Mutation_p.A173S|EFCAB1_ENST00000521002.1_5'UTR	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	173	EF-hand 2.						calcium ion binding	p.A173S(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCTCTCACAGCCAGTTCATAG	0.423000													19	143					2.52088e-20	3.94443e-20	0.639603	1	0
GPR39	2863	broad.mit.edu	37	2	133174633	133174633	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:133174633C>T	ENST00000329321.3	+	1	487	c.18C>T	c.(16-18)ctC>ctT	p.L6L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	6						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	p.L6L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACCCAGCCTCCCGGGCAGTG	0.522000													17	70					0	0	0.557998	0	0
ROBO1	6091	broad.mit.edu	37	3	78763638	78763638	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:78763638C>A	ENST00000436010.2	-	6	1834	c.837G>T	c.(835-837)agG>agT	p.R279S	ROBO1_ENST00000464233.1_Missense_Mutation_p.R318S|ROBO1_ENST00000467549.1_Missense_Mutation_p.R279S|ROBO1_ENST00000495273.1_Missense_Mutation_p.R279S			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	318	Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.R318S(2)|p.R295S(1)|p.R279S(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTGTCACCTTCCTAATTTTCA	0.378000													11	52					3.86212e-05	4.22188e-05	0.361761	1	0
PLD1	5337	broad.mit.edu	37	3	171426594	171426594	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:171426594C>G	ENST00000356327.5	-	11	1166	c.1096G>C	c.(1096-1098)Gca>Cca	p.A366P	PLD1_ENST00000342215.6_Missense_Mutation_p.A366P|PLD1_ENST00000351298.4_Missense_Mutation_p.A366P|PLD1_ENST00000340989.4_Missense_Mutation_p.A366P	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	366					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.A366P(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATTGCATTTGCCACATCTTCA	0.318000													27	106					0	0	0.706142	0	0
P4HA2	8974	broad.mit.edu	37	5	131544999	131544999	+	Silent	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:131544999C>G	ENST00000401867.1	-	8	1303	c.735G>C	c.(733-735)ggG>ggC	p.G245G	P4HA2_ENST00000379086.1_Silent_p.G245G|P4HA2_ENST00000379100.2_Silent_p.G245G|P4HA2_ENST00000360568.3_Silent_p.G245G|P4HA2_ENST00000166534.4_Silent_p.G245G|P4HA2_ENST00000379104.2_Silent_p.G245G			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	245						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	p.G245G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ACCGCAGATTCCCTCCAGCTC	0.423000													40	255					0	0	0.834066	0	0
PTPRT	11122	broad.mit.edu	37	20	41076866	41076866	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:41076866G>T	ENST00000373198.3	-	9	1789	c.1554C>A	c.(1552-1554)ctC>ctA	p.L518L	PTPRT_ENST00000373201.1_Silent_p.L518L|PTPRT_ENST00000373184.1_Silent_p.L518L|PTPRT_ENST00000373190.1_Silent_p.L518L|PTPRT_ENST00000373187.1_Silent_p.L518L|PTPRT_ENST00000373193.3_Silent_p.L518L|PTPRT_ENST00000356100.2_Silent_p.L518L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	518	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.Y519N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTACCTCGTAGAGCGTGATGA	0.493000													97	249					9.07443e-57	1.76619e-56	0.870114	1	0
SFRP4	6424	broad.mit.edu	37	7	37951860	37951860	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:37951860C>T	ENST00000436072.2	-	4	1029	c.652G>A	c.(652-654)Gtg>Atg	p.V218M	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	218	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.V218M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTTACATCCACCACCGTTGTG	0.433000													16	69					0	0	0.479597	0	0
TRPC5	7224	broad.mit.edu	37	X	111097033	111097033	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:111097033G>T	ENST00000262839.2	-	4	2120	c.1202C>A	c.(1201-1203)aCt>aAt	p.T401N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	401					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.T401N(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCCACGACAGTTGGGGGAGG	0.488000													43	89					5.34276e-22	8.57851e-22	0.870114	1	0
KIAA1377	57562	broad.mit.edu	37	11	101786111	101786111	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:101786111G>C	ENST00000263468.8	+	1	366	c.96G>C	c.(94-96)gaG>gaC	p.E32D	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	32							protein binding	p.E32D(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCCCTCGGGAGAGCGGCGGGC	0.637000													28	107					0	0	0.788014	0	0
ZNF536	9745	broad.mit.edu	37	19	30934598	30934598	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:30934598C>T	ENST00000355537.3	+	2	276	c.129C>T	c.(127-129)ctC>ctT	p.L43L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L43L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTCCCAGCTCAGCCATGCCT	0.672000													9	72					0	0	0.361761	0	0
MLLT11	10962	broad.mit.edu	37	1	151039792	151039792	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:151039792G>A	ENST00000368921.3	+	2	2894	c.92G>A	c.(91-93)gGt>gAt	p.G31D	CDC42SE1_ENST00000439374.2_5'UTR	NM_006818.3	NP_006809.1	Q13015	AF1Q_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11	31					positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent			p.G31D(1)		upper_aerodigestive_tract(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0167)|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;0.211)			GAAGGCCTGGGTCTGTCAGAT	0.522000													27	161					0	0	0.693898	0	0
CLMN	79789	broad.mit.edu	37	14	95670781	95670781	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:95670781T>A	ENST00000298912.4	-	9	1018	c.905A>T	c.(904-906)gAt>gTt	p.D302V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	302						integral to membrane	actin binding	p.D302V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AACTTCTTTATCTGAATCGAA	0.353000													4	100					0	0	0.184627	0	0
FMN2	56776	broad.mit.edu	37	1	240371460	240371460	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:240371460G>A	ENST00000319653.9	+	5	3578	c.3348G>A	c.(3346-3348)gcG>gcA	p.A1116A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1116	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.A1259A(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGGCATACCCC	0.716000													5	7					0	0	0.184627	0	0
FAM47A	158724	broad.mit.edu	37	X	34149849	34149849	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:34149849G>T	ENST00000346193.3	-	1	598	c.547C>A	c.(547-549)Ccc>Acc	p.P183T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	183	Pro-rich.							p.P183T(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCCCACAGGGATGTTTACCA	0.597000													23	39					7.92952e-12	1.07432e-11	0.667858	1	0
MUC16	94025	broad.mit.edu	37	19	9086151	9086151	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:9086151C>A	ENST00000397910.4	-	1	5867	c.5664G>T	c.(5662-5664)atG>atT	p.M1888I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1888	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M1888I(2)		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						TGCTGTTTCCCATAGACAGGG	0.502000													31	62					2.47316e-13	3.45031e-13	0.779181	1	0
CAMTA1	23261	broad.mit.edu	37	1	7811344	7811344	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:7811344A>G	ENST00000303635.7	+	20	4982	c.4775A>G	c.(4774-4776)cAg>cGg	p.Q1592R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q1578R|CAMTA1_ENST00000476864.1_Missense_Mutation_p.Q156R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1592	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.Q1592R(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AAATTCCAGCAGAGCCGACGG	0.463000			T	WWTR1	epitheliod hemangioendothelioma								113	176					0	0	0.870114	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3638995	3638995	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:3638995C>A	ENST00000335312.3	-	16	1895	c.1807G>T	c.(1807-1809)Ggt>Tgt	p.G603C	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.G603C|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.G603C|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.G603C	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	603					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.G603C(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCAGAGGCACCGGCCGGGGAA	0.692000													8	17					7.48243e-07	8.71676e-07	0.335167	1	0
LYPD1	116372	broad.mit.edu	37	2	133427484	133427484	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:133427484C>T	ENST00000397463.2	-	1	294	c.22G>A	c.(22-24)Gca>Aca	p.A8T	LYPD1_ENST00000345008.6_Intron	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	8						anchored to membrane|plasma membrane		p.A8T(1)		lung(2)	2						CAAAAAGTTGCCGCGATGCCT	0.647000													3	22					0	0	0.150653	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118368610	118368610	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:118368610C>T	ENST00000528052.1	+	13	1457	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	PNLIPRP1_ENST00000358834.4_Silent_p.L462L|PNLIPRP1_ENST00000534537.1_Silent_p.L462L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	462	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.L462L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACACGCTGCTCACCCTCACGC	0.542000													6	70					0	0	0.278610	0	0
OR13G1	441933	broad.mit.edu	37	1	247835530	247835530	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:247835530C>A	ENST00000359688.2	-	1	835	c.814G>T	c.(814-816)Gct>Tct	p.A272S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A272S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGAGTGCAGCTACCACCTTG	0.453000													48	137					1.08114e-33	1.96526e-33	0.870114	1	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122051	90122051	+	RNA	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:90122051G>T	ENST00000483379.1	+	0	450																											AGTGGATCTGGGACAGAATTC	0.483000													45	171					3.39706e-21	5.41088e-21	0.870114	1	0
SLC38A10	124565	broad.mit.edu	37	17	79246366	79246366	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:79246366G>A	ENST00000374759.3	-	9	1357	c.974C>T	c.(973-975)aCc>aTc	p.T325I	SLC38A10_ENST00000288439.5_Missense_Mutation_p.T325I|SLC38A10_ENST00000546352.1_Intron	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	325					amino acid transport|sodium ion transport	integral to membrane		p.T325I(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACAGAGAGGGTAAGTGCTTT	0.537000													49	112					0	0	0.870114	0	0
LRRC32	2615	broad.mit.edu	37	11	76376990	76376990	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:76376990G>T	ENST00000407242.2	-	2	251	c.9C>A	c.(7-9)ccC>ccA	p.P3P	LRRC32_ENST00000464145.1_5'UTR|LRRC32_ENST00000260061.5_Silent_p.P3P|LRRC32_ENST00000404995.1_Silent_p.P3P	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	3						integral to plasma membrane		p.P3P(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCAGGATCTGGGGTCTCATGG	0.597000													36	151					6.33695e-27	1.09456e-26	0.834066	1	0
MLH3	27030	broad.mit.edu	37	14	75515236	75515236	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:75515236C>T	ENST00000355774.2	-	2	1338	c.1123G>A	c.(1123-1125)Gat>Aat	p.D375N	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.D375N|MLH3_ENST00000556740.1_Missense_Mutation_p.D375N|MLH3_ENST00000556257.1_Missense_Mutation_p.D375N	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	375					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.D375N(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AGAGTAGCATCAAATAAACTA	0.328000								Mismatch excision repair (MMR)					11	59					0	0	0.387290	0	0
RIF1	55183	broad.mit.edu	37	2	152317652	152317652	+	Splice_Site	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:152317652C>G	ENST00000243326.4	+	26	3559	c.3075_splice	c.e26-1	p.L1026_splice	RIF1_ENST00000453091.2_Splice_Site_p.L1026_splice|RIF1_ENST00000444746.2_Splice_Site_p.L1026_splice|RIF1_ENST00000428287.2_Splice_Site_p.L1026_splice|RIF1_ENST00000430328.2_Splice_Site_p.L1026_splice			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1026					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.L1026V(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAATCTGCAGCTGAAACTTGA	0.318000													16	110					0	0	0.500413	0	0
AGBL1	123624	broad.mit.edu	37	15	86807844	86807844	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:86807844C>T	ENST00000441037.2	+	10	1399	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	AGBL1_ENST00000389298.3_Missense_Mutation_p.S166F|AGBL1_ENST00000421325.2_Missense_Mutation_p.S435F	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	435			S -> P (in dbSNP:rs11857527).		C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.S435F(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGAGTGCCTCCTTTTCTAAT	0.448000													42	167					0	0	0.834066	0	0
PTPRK	5796	broad.mit.edu	37	6	128403663	128403663	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:128403663T>A	ENST00000368227.3	-	10	2062	c.1696A>T	c.(1696-1698)Acg>Tcg	p.T566S	PTPRK_ENST00000368207.3_Missense_Mutation_p.T566S|PTPRK_ENST00000532331.1_Missense_Mutation_p.T566S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368210.3_Missense_Mutation_p.T566S|PTPRK_ENST00000368213.5_Missense_Mutation_p.T566S|PTPRK_ENST00000368215.3_Missense_Mutation_p.T566S|PTPRK_ENST00000368226.4_Missense_Mutation_p.T566S|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	566	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.T566S(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AACTGGTACGTGGTTCCAGGG	0.453000													76	122					0	0	0.870114	0	0
MMP16	4325	broad.mit.edu	37	8	89209476	89209476	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:89209476G>A	ENST00000286614.6	-	2	473	c.192C>T	c.(190-192)cgC>cgT	p.R64R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	64					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R64R(1)		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						TCTCTGCAGAGCGCAGCACTG	0.443000													40	47					0	0	0.812448	0	0
LOR	4014	broad.mit.edu	37	1	153233489	153233489	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:153233489G>A	ENST00000368742.3	+	2	121	c.64G>A	c.(64-66)Ggc>Agc	p.G22S		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	22					keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton	p.G22S(1)		lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCTCTggcggcggtggcgg	0.672000													7	18					0	0	0.248553	0	0
ARID3C	138715	broad.mit.edu	37	9	34623960	34623960	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:34623960C>A	ENST00000378909.2	-	3	568	c.476G>T	c.(475-477)gGc>gTc	p.G159V		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	159	ARID.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G159V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TTCCACCAGGCCGCCCTTGGC	0.662000													4	8					0.184627	0.186733	0.184627	1	0
MAPT	4137	broad.mit.edu	37	17	44049287	44049287	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:44049287G>T	ENST00000344290.5	+	3	518	c.196G>T	c.(196-198)Gct>Tct	p.A66S	MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Missense_Mutation_p.A66S|MAPT_ENST00000571987.1_Missense_Mutation_p.A66S|MAPT_ENST00000262410.5_Missense_Mutation_p.A66S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.A66S|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Missense_Mutation_p.A66S|MAPT_ENST00000420682.2_Missense_Mutation_p.A66S|MAPT_ENST00000347967.5_Start_Codon_SNP_p.M1I|MAPT_ENST00000415613.2_Missense_Mutation_p.A66S|MAPT_ENST00000351559.5_Missense_Mutation_p.A66S|MAPT_ENST00000340799.5_Missense_Mutation_p.A66S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	66					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	p.A66S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AACCTCTGATGCTAAGAGCAC	0.617000													24	48					4.26978e-12	5.86451e-12	0.654019	1	0
SCML2	10389	broad.mit.edu	37	X	18276282	18276282	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:18276282C>A	ENST00000251900.4	-	10	1314	c.1155G>T	c.(1153-1155)ccG>ccT	p.P385P	SCML2_ENST00000398048.3_Silent_p.P121P	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	385					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.P385P(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TCACCGGGCCCGGGCCGAAGT	0.498000													47	76					4.65455e-14	6.60913e-14	0.870114	1	0
GOLIM4	27333	broad.mit.edu	37	3	167745577	167745577	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:167745577C>A	ENST00000470487.1	-	12	2251	c.1562G>T	c.(1561-1563)gGt>gTt	p.G521V	GOLIM4_ENST00000309027.4_Missense_Mutation_p.G493V	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	521	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.G521V(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATGTCTATTACCTGGATCTCC	0.458000													73	184					1.71382e-40	3.23316e-40	0.870114	1	0
SAGE1	55511	broad.mit.edu	37	X	134993770	134993770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:134993770G>T	ENST00000535938.1	+	18	2346	c.2179G>T	c.(2179-2181)Gag>Tag	p.E727*	SAGE1_ENST00000324447.3_Nonsense_Mutation_p.E727*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.E727*|SAGE1_ENST00000537770.1_Nonsense_Mutation_p.E351*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	727								p.E727*(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCAGGAGGAGGAGATGGAAAA	0.428000													82	188					3.49902e-48	6.72824e-48	0.870114	1	0
PLCL1	5334	broad.mit.edu	37	2	198949706	198949706	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:198949706C>T	ENST00000428675.1	+	2	1863	c.1465C>T	c.(1465-1467)Ctt>Ttt	p.L489F	PLCL1_ENST00000437704.2_Missense_Mutation_p.L391F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	489	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L391V(1)|p.L489V(1)|p.L391F(1)|p.L489F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCCACTCATTCTTTGCTTGGG	0.403000													11	61					0	0	0.361761	0	0
MYRIP	25924	broad.mit.edu	37	3	40192632	40192632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:40192632C>A	ENST00000302541.6	+	4	768	c.426C>A	c.(424-426)taC>taA	p.Y142*	MYRIP_ENST00000444716.1_Nonsense_Mutation_p.Y142*|MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000425621.1_Nonsense_Mutation_p.Y142*|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_5'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	142					intracellular protein transport		actin binding|zinc ion binding	p.Y142Y(1)|p.Y142*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAACCTGTACAGGAAGCACC	0.552000													5	15					0.0215528	0.0222211	0.217242	1	0
NOS3	4846	broad.mit.edu	37	7	150696413	150696413	+	Silent	SNP	G	G	A	rs144299379		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:150696413G>A	ENST00000297494.3	+	9	1449	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	NOS3_ENST00000461406.1_Silent_p.T158T|NOS3_ENST00000467517.1_Silent_p.T364T|NOS3_ENST00000484524.1_Silent_p.T364T	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	364	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.T364T(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGATCGGCACGAGGAACCTGT	0.627000													16	143					0	0	0.479597	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672837	10672837	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr18:10672837G>T	ENST00000302079.6	-	50	7666	c.7667C>A	c.(7666-7668)tCc>tAc	p.S2556Y	PIEZO2_ENST00000580640.1_Missense_Mutation_p.S2644Y|PIEZO2_ENST00000538948.1_Missense_Mutation_p.S576Y|PIEZO2_ENST00000285141.4_Missense_Mutation_p.S411Y|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Missense_Mutation_p.S2619Y			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2619						integral to membrane	ion channel activity	p.S2619Y(1)|p.S411Y(1)									ATTGTCTCTGGACAAAATGAT	0.378000													44	92					4.86159e-25	8.18471e-25	0.870114	1	0
PXK	54899	broad.mit.edu	37	3	58368428	58368428	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:58368428G>T	ENST00000463280.1	+	2	380		c.e2+1		PXK_ENST00000484288.1_Splice_Site|PXK_ENST00000536660.1_Intron|PXK_ENST00000479241.1_Splice_Site|PXK_ENST00000383716.3_Splice_Site|PXK_ENST00000356151.2_Splice_Site|PXK_ENST00000383715.4_Splice_Site|PXK_ENST00000302779.5_Splice_Site			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase						cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	p.?(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AACTATACTGGTAAGCGAAGG	0.393000													21	108					3.8784e-16	5.74205e-16	0.608945	1	0
POTEF	728378	broad.mit.edu	37	2	130877729	130877729	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:130877729C>A	ENST00000357462.5	-	1	453	c.360G>T	c.(358-360)tgG>tgT	p.W120C	POTEF_ENST00000409914.2_Missense_Mutation_p.W120C|POTEF_ENST00000360967.5_Missense_Mutation_p.W120C|POTEF_ENST00000361163.4_Missense_Mutation_p.W120C			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	120						cell cortex	ATP binding	p.W120C(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CGTAGTCTCCCCAAGCGCCCA	0.587000													21	83					2.4624e-09	3.11409e-09	0.575678	1	0
ABCC12	94160	broad.mit.edu	37	16	48177929	48177929	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:48177929G>T	ENST00000311303.3	-	2	512	c.167C>A	c.(166-168)aCa>aAa	p.T56K	ABCC12_ENST00000448542.1_Missense_Mutation_p.T56K|ABCC12_ENST00000416054.1_Missense_Mutation_p.T56K	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	56						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.T56K(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCAGGAAAATGTGGCGAAGGA	0.567000													35	93					3.62531e-18	5.55277e-18	0.796494	1	0
PAPPA2	60676	broad.mit.edu	37	1	176525551	176525551	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:176525551G>C	ENST00000367662.3	+	2	1257	c.93G>C	c.(91-93)aaG>aaC	p.K31N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.K31N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	31					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.K31N(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGACACGCAAGAAATCCTTGG	0.537000													59	164					0	0	0.870114	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172542	207172542	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:207172542G>T	ENST00000374423.3	+	5	3676	c.3290G>T	c.(3289-3291)tGg>tTg	p.W1097L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1097							nucleic acid binding|zinc ion binding	p.W1097L(4)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAGACCAATGGAAGGAAGAG	0.323000													11	44					9.70103e-10	1.23468e-09	0.361761	1	0
OR8D2	283160	broad.mit.edu	37	11	124189176	124189176	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:124189176C>A	ENST00000357438.2	-	1	1008	c.918G>T	c.(916-918)agG>agT	p.R306S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R306S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ACTGCCTTCCCCTAGTCATCT	0.393000													21	139					1.2644e-06	1.46019e-06	0.592651	1	0
ASCC3	10973	broad.mit.edu	37	6	101075586	101075586	+	Splice_Site	SNP	T	T	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:101075586T>G	ENST00000369162.2	-	29	4866	c.4521_splice	c.e29-1	p.M1508_splice		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1508	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.M1508L(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AACAAGCCCATCTAGAGTAAA	0.348000													15	47					0	0	0.479597	0	0
UGGT1	56886	broad.mit.edu	37	2	128870688	128870688	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:128870688C>T	ENST00000375990.3	+	6	883	c.480C>T	c.(478-480)caC>caT	p.H160H	UGGT1_ENST00000259253.6_Silent_p.H184H			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	184					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.H184H(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAGGAGATCACAGATATCCCT	0.328000													39	350					0	0	0.812448	0	0
WDR44	54521	broad.mit.edu	37	X	117532434	117532434	+	Splice_Site	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:117532434G>C	ENST00000254029.3	+	8	1669		c.e8+1		WDR44_ENST00000371822.5_Splice_Site|WDR44_ENST00000371825.3_Splice_Site	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44							cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		p.?(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AACAGAAAACGTGAGTTACAG	0.353000													35	62					0	0	0.779181	0	0
ADAR	103	broad.mit.edu	37	1	154558793	154558793	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:154558793C>A	ENST00000368474.4	-	12	3265	c.3066G>T	c.(3064-3066)tgG>tgT	p.W1022C	ADAR_ENST00000368471.3_Missense_Mutation_p.W727C|ADAR_ENST00000292205.5_Missense_Mutation_p.W1065C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1022	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	p.W1022C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAATGCCATCCCACGTAGGCA	0.572000													24	55					3.65163e-15	5.30783e-15	0.706142	1	0
CCDC80	151887	broad.mit.edu	37	3	112326064	112326064	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:112326064C>A	ENST00000206423.3	-	7	3418	c.2465G>T	c.(2464-2466)gGa>gTa	p.G822V	CCDC80_ENST00000439685.2_Missense_Mutation_p.G822V	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	822								p.G822V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AACTTCCTCTCCAACGCCTAA	0.363000													18	89					1.99824e-07	2.39069e-07	0.520397	1	0
CSMD1	64478	broad.mit.edu	37	8	3038656	3038656	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:3038656C>G	ENST00000602557.1	-	38	6259	c.5704G>C	c.(5704-5706)Gct>Cct	p.A1902P	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.A1902P|CSMD1_ENST00000520002.1_Missense_Mutation_p.A1902P|CSMD1_ENST00000542608.1_Missense_Mutation_p.A1901P|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1902P|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1901P|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1901P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1902	CUB 11.					integral to membrane		p.A1901P(1)|p.A1630P(1)		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)		TGGAAACCAGCAGCTGCCACA	0.408000													7	17					0	0	0.248553	0	0
PRPF38B	55119	broad.mit.edu	37	1	109238948	109238948	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:109238948G>A	ENST00000370021.1	+	5	851	c.214G>A	c.(214-216)Gat>Aat	p.D72N	PRPF38B_ENST00000370025.4_Missense_Mutation_p.D183N|PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.D183N			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	183					mRNA processing|RNA splicing	spliceosomal complex		p.D183N(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ATCCTTCCTTGATGATGAAGA	0.308000													17	155					0	0	0.557998	0	0
IGLC7	28834	broad.mit.edu	37	22	23265035	23265035	+	RNA	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr22:23265035C>A	ENST00000390331.1	+	0	270																											CCGGGTCACGCATGAAGGGAG	0.622000													9	21					1.3612e-06	1.56294e-06	0.479597	1	0
ENPP2	5168	broad.mit.edu	37	8	120608213	120608213	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:120608213C>A	ENST00000259486.6	-	12	1051	c.1002G>T	c.(1000-1002)ccG>ccT	p.P334P	ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000427067.2_Intron	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.P334P(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTCTCTTAGCCGGAGTAAAAG	0.448000													109	122					6.21429e-34	1.13219e-33	0.870114	1	0
NDN	4692	broad.mit.edu	37	15	23932116	23932116	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:23932116C>A	ENST00000331837.4	-	1	334	c.249G>T	c.(247-249)ccG>ccT	p.P83P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	83					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.P83P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGGCCGCGCTCGGGGCCTGGT	0.756000									Prader-Willi syndrome				10	6					0.000978159	0.00103114	0.387290	1	0
CTNNA2	1496	broad.mit.edu	37	2	80816440	80816440	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:80816440G>T	ENST00000466387.1	+	19	2743	c.2019G>T	c.(2017-2019)gcG>gcT	p.A673A	CTNNA2_ENST00000361291.4_Silent_p.A707A|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000402739.4_Silent_p.A673A|CTNNA2_ENST00000540488.1_Silent_p.A673A|CTNNA2_ENST00000496558.1_Silent_p.A673A|CTNNA2_ENST00000541047.1_Silent_p.A673A|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Silent_p.A352A|AC008067.2_ENST00000595478.1_RNA			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	673					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.A673A(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCATCATGGCGCAACTACCGC	0.517000													17	42					4.7546e-09	5.95632e-09	0.500413	1	0
PTPRD	5789	broad.mit.edu	37	9	8486068	8486068	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:8486068C>T	ENST00000381196.4	-	25	3292	c.2749G>A	c.(2749-2751)Gta>Ata	p.V917I	PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.V917I|PTPRD_ENST00000360074.4_Missense_Mutation_p.V904I|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.V895I|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.V917I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	917					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V917I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAGTTGGTACTTCTTCTGGA	0.498000										TSP Lung(15;0.13)			31	72					0	0	0.729181	0	0
HOXA5	3202	broad.mit.edu	37	7	27183101	27183101	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:27183101G>T	ENST00000222726.3	-	1	186	c.126C>A	c.(124-126)tcC>tcA	p.S42S	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	42					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S42*(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CGTACCTGCCGGAGTGCATGC	0.607000													12	49					4.3838e-07	5.1521e-07	0.435327	1	0
MUC16	94025	broad.mit.edu	37	19	9033633	9033633	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:9033633T>G	ENST00000397910.4	-	9	36507	c.36304A>C	c.(36304-36306)Aca>Cca	p.T12102P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12104	SEA 1.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T12102P(1)		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						TCTCTCTCTGTGGCGTTGAAC	0.592000													23	63					0	0	0.654019	0	0
MAP1B	4131	broad.mit.edu	37	5	71490888	71490888	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:71490888C>A	ENST00000296755.7	+	5	2004	c.1706C>A	c.(1705-1707)aCa>aAa	p.T569K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	569						microtubule|microtubule associated complex	structural molecule activity	p.T569K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTGAGGTCACAAAAGTGAAT	0.448000													7	33					0.000157383	0.000169033	0.278610	1	0
IGHM	3507	broad.mit.edu	37	14	106322151	106322151	+	RNA	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:106322151G>C	ENST00000390559.2	-	0	172																											TCTCAGGACTGATGGGAAGCC	0.582000													8	45					0	0	0.335167	0	0
SCN3A	6328	broad.mit.edu	37	2	165952085	165952085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:165952085G>T	ENST00000360093.3	-	25	4858	c.4367C>A	c.(4366-4368)tCa>tAa	p.S1456*	SCN3A_ENST00000283254.7_Nonsense_Mutation_p.S1456*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.S1407*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1456						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1407*(1)|p.S1456*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTGAAGAATGACCCAAAGAT	0.289000													15	92					8.60227e-14	1.21498e-13	0.500413	1	0
PAX1	5075	broad.mit.edu	37	20	21686967	21686967	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:21686967C>A	ENST00000444366.2	+	1	107	c.106C>A	c.(106-108)Cct>Act	p.P36T	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron			P15863	PAX1_HUMAN	paired box 1	344					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCACAGGTCACCTTTGGAAGT	0.682000													3	19					6.4e-05	6.94066e-05	0.115264	1	0
PSG9	5678	broad.mit.edu	37	19	43773541	43773541	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:43773541A>T	ENST00000244293.7	-	1	109	c.43T>A	c.(43-45)Tgg>Agg	p.W15R	PSG9_ENST00000291752.5_Missense_Mutation_p.W15R|PSG9_ENST00000443718.3_Missense_Mutation_p.W15R|PSG9_ENST00000593948.1_Missense_Mutation_p.W15R|PSG9_ENST00000270077.3_Missense_Mutation_p.W15R|PSG9_ENST00000418820.2_Missense_Mutation_p.W15R|PSG9_ENST00000596730.1_Missense_Mutation_p.W15R			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	15					female pregnancy	extracellular region		p.W15R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGCCCCTTCCAGGTGATGCGC	0.617000													50	137					0	0	0.870114	0	0
LRRC7	57554	broad.mit.edu	37	1	70225969	70225969	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:70225969G>C	ENST00000310961.5	+	4	515	c.97G>C	c.(97-99)Gat>Cat	p.D33H	LRRC7_ENST00000035383.5_Missense_Mutation_p.D28H|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.D66H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	28						centrosome|focal adhesion|nucleolus	protein binding	p.D66H(1)|p.D28H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCAGTTTTAGATTACTCCCA	0.458000													10	80					0	0	0.335167	0	0
SLC10A7	84068	broad.mit.edu	37	4	147438205	147438205	+	Silent	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:147438205T>A	ENST00000432059.2	-	2	414	c.168A>T	c.(166-168)ctA>ctT	p.L56L	SLC10A7_ENST00000394059.4_Silent_p.L56L|SLC10A7_ENST00000264986.3_Silent_p.L56L|SLC10A7_ENST00000502607.1_Silent_p.L56L|SLC10A7_ENST00000335472.7_Silent_p.L56L|SLC10A7_ENST00000394062.3_Silent_p.L56L|SLC10A7_ENST00000511374.1_Silent_p.L56L|SLC10A7_ENST00000507030.1_Silent_p.L56L|SLC10A7_ENST00000511315.1_5'UTR			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	56						integral to membrane	bile acid:sodium symporter activity	p.L56L(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TTTTCAATGATAGTCCACTGT	0.333000													213	294					0	0	0.870114	0	0
LAMA1	284217	broad.mit.edu	37	18	7007241	7007241	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr18:7007241G>T	ENST00000389658.3	-	29	4250	c.4157C>A	c.(4156-4158)cCa>cAa	p.P1386Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1386	Laminin EGF-like 14; second part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.P1386Q(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTCCCTGCTGGGAGCTTCCC	0.557000													12	35					4.36969e-10	5.62421e-10	0.435327	1	0
SLIT3	6586	broad.mit.edu	37	5	168180939	168180939	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:168180939T>G	ENST00000519560.1	-	17	2178	c.1759A>C	c.(1759-1761)Atg>Ctg	p.M587L	SLIT3_ENST00000404867.3_Missense_Mutation_p.M587L|SLIT3_ENST00000332966.8_Missense_Mutation_p.M587L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	587					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.M587L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGTCAGCATCAGCTCCTGC	0.577000													9	31					0	0	0.335167	0	0
AQP10	89872	broad.mit.edu	37	1	154293724	154293724	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:154293724G>A	ENST00000484864.1	+	1	129	c.93G>A	c.(91-93)gtG>gtA	p.V31V	AQP10_ENST00000324978.3_Silent_p.V31V|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	31					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.V31V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCTGGGTGTGTTTGTACTCA	0.552000													21	66					0	0	0.608945	0	0
DTNA	1837	broad.mit.edu	37	18	32431873	32431873	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr18:32431873G>A	ENST00000283365.9	+	14	1612	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	DTNA_ENST00000444659.1_Missense_Mutation_p.E478K|DTNA_ENST00000269192.7_Missense_Mutation_p.E187K|DTNA_ENST00000598142.1_Missense_Mutation_p.E421K|DTNA_ENST00000597674.1_Missense_Mutation_p.E100K|DTNA_ENST00000399121.5_Missense_Mutation_p.E418K|DTNA_ENST00000598334.1_Missense_Mutation_p.E418K|DTNA_ENST00000595022.1_Missense_Mutation_p.E418K|DTNA_ENST00000599844.1_Missense_Mutation_p.E100K|DTNA_ENST00000556414.3_Missense_Mutation_p.E130K|DTNA_ENST00000348997.5_Missense_Mutation_p.E475K|DTNA_ENST00000591182.1_Missense_Mutation_p.E126K|DTNA_ENST00000399113.3_Missense_Mutation_p.E478K|DTNA_ENST00000269190.7_Missense_Mutation_p.E479K|DTNA_ENST00000597599.1_Missense_Mutation_p.E418K|DTNA_ENST00000399097.3_Missense_Mutation_p.E126K|DTNA_ENST00000598774.1_Missense_Mutation_p.E421K|DTNA_ENST00000269191.6_Missense_Mutation_p.E478K|DTNA_ENST00000601125.1_Missense_Mutation_p.E100K|DTNA_ENST00000596745.1_Missense_Mutation_p.E228K	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	478	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.E126K(1)|p.E478K(1)|p.E479K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCTGATTGCTGAGCTAGAAAA	0.423000													35	49					0	0	0.769981	0	0
HSP90B1	7184	broad.mit.edu	37	12	104324296	104324296	+	Translation_Start_Site	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:104324296G>A	ENST00000299767.5	+	1	185	c.3G>A	c.(1-3)atG>atA	p.M1I	MIR3652_ENST00000579335.1_RNA	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	1					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	p.M1I(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CGCACGCCATGAGGGCCCTGT	0.687000													3	20					0	0	0.115264	0	0
LRFN5	145581	broad.mit.edu	37	14	42360763	42360763	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:42360763G>T	ENST00000298119.4	+	4	2885	c.1696G>T	c.(1696-1698)Gtt>Ttt	p.V566F	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	566						integral to membrane		p.V566F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGTCACCAAGGTTAGCAATGT	0.443000										HNSCC(30;0.082)			26	103					9.86323e-18	1.50207e-17	0.667858	1	0
CCDC148	130940	broad.mit.edu	37	2	159196804	159196804	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:159196804G>T	ENST00000283233.5	-	5	749	c.436C>A	c.(436-438)Cag>Aag	p.Q146K	CCDC148_ENST00000409187.1_Missense_Mutation_p.Q155K|CCDC148_ENST00000409889.1_Missense_Mutation_p.Q146K|CCDC148_ENST00000536771.1_Missense_Mutation_p.Q60K	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	146								p.Q146K(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGAATGCTGCAAAGTGTGA	0.348000													23	112					2.48779e-11	3.31983e-11	0.693898	1	0
CYP4F12	66002	broad.mit.edu	37	19	15796003	15796003	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:15796003G>A	ENST00000550308.1	+	9	1491	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	CYP4F12_ENST00000324632.9_Missense_Mutation_p.E371K	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.E371K(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TAAAGAGATTGAATGGTGAGT	0.547000													45	60					0	0	0.870114	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71376433	71376433	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:71376433A>T	ENST00000244230.2	+	10	2098	c.1746A>T	c.(1744-1746)aaA>aaT	p.K582N		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	582					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	p.K582N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGAAAAAGAAATATCAAAAGC	0.358000													12	20					0	0	0.387290	0	0
SLFN12	55106	broad.mit.edu	37	17	33738843	33738843	+	Silent	SNP	G	G	A	rs112295255		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:33738843G>A	ENST00000394562.1	-	6	1774	c.1251C>T	c.(1249-1251)gtC>gtT	p.V417V	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Silent_p.V417V|SLFN12_ENST00000304905.5_Silent_p.V417V			Q8IYM2	SLN12_HUMAN	schlafen family member 12	417							ATP binding	p.V417V(1)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCCCTTTCTGACAGAGTCCA	0.428000													46	187					0	0	0.870114	0	0
MUC5B	727897	broad.mit.edu	37	11	1272848	1272848	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:1272848T>A	ENST00000447027.1	+	31	14805	c.14747T>A	c.(14746-14748)cTg>cAg	p.L4916Q	MUC5B_ENST00000529681.1_Missense_Mutation_p.L4913Q			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4913	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.L4913Q(1)|p.L4868Q(1)		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)		CCCAGCAGCCTGCCAACCTTC	0.647000													9	20					0	0	0.361761	0	0
MAP2K7	5609	broad.mit.edu	37	19	7976183	7976183	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:7976183C>T	ENST00000545011.1	+	8	1095	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	MAP2K7_ENST00000397981.3_Missense_Mutation_p.R302W|MAP2K7_ENST00000397983.3_Missense_Mutation_p.R318W|MAP2K7_ENST00000397979.3_Missense_Mutation_p.R302W			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	302	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R302W(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CTATGACATCCGGGCCGACGT	0.667000													13	93					0	0	0.557998	0	0
CR1	1378	broad.mit.edu	37	1	207760745	207760745	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:207760745C>A	ENST00000367049.4	+	34	5545	c.5545C>A	c.(5545-5547)Cca>Aca	p.P1849T	CR1_ENST00000367051.1_Missense_Mutation_p.P1399T|CR1_ENST00000400960.2_Missense_Mutation_p.P1399T|CR1_ENST00000367053.1_Missense_Mutation_p.P1399T|CR1_ENST00000367052.1_Missense_Mutation_p.P1399T|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1399	Sushi 29.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.P1849K(1)|p.P1404K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGTAAAACCCCAGAGCAGTT	0.438000													27	101					3.69857e-22	5.98673e-22	0.729181	1	0
SLC3A1	6519	broad.mit.edu	37	2	44547563	44547563	+	Missense_Mutation	SNP	C	C	T	rs121912696		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:44547563C>T	ENST00000260649.6	+	10	1919	c.1843C>T	c.(1843-1845)Ccc>Tcc	p.P615S	SLC3A1_ENST00000409740.3_Missense_Mutation_p.P246S|SLC3A1_ENST00000409380.1_Missense_Mutation_p.P337S|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409411.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	615			P -> T (in CSNU1).		carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	p.P615S(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTCGGGCCTTCCCGCTAAAAT	0.408000													43	96					0	0	0.847076	0	0
COPG1	22820	broad.mit.edu	37	3	128984617	128984617	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:128984617C>A	ENST00000314797.6	+	14	1554	c.1450C>A	c.(1450-1452)Cat>Aat	p.H484N		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	484					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.H484N(1)									GGTCTTGGAGCATGAGGAGGT	0.552000													10	61					6.40141e-05	6.94066e-05	0.387290	1	0
MID2	11043	broad.mit.edu	37	X	107084577	107084577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:107084577C>T	ENST00000262843.6	+	2	1230	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	MID2_ENST00000443968.2_Nonsense_Mutation_p.Q228*	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	228						centrosome|microtubule	ligase activity|zinc ion binding	p.Q208*(1)|p.Q228*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CCGAGACCATCAGGTCGCATC	0.463000													20	108					0	0	0.575678	0	0
URB2	9816	broad.mit.edu	37	1	229773793	229773793	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:229773793A>T	ENST00000258243.2	+	4	3569	c.3433A>T	c.(3433-3435)Agg>Tgg	p.R1145W		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1145						nucleolus		p.R1145W(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGGAAGCGACAGGACGCTGCT	0.582000													21	84					0	0	0.654019	0	0
GTDC1	79712	broad.mit.edu	37	2	144714835	144714835	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:144714835C>A	ENST00000409214.1	-	9	1335	c.1057G>T	c.(1057-1059)Gac>Tac	p.D353Y	AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000392869.1_Missense_Mutation_p.D353Y|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000409298.1_Missense_Mutation_p.D235Y|GTDC1_ENST00000542155.1_Missense_Mutation_p.D353Y|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000344850.4_Missense_Mutation_p.D353Y|GTDC1_ENST00000463875.2_Missense_Mutation_p.D224Y	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	353					biosynthetic process		transferase activity, transferring glycosyl groups	p.D353Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TGGAAATAGTCATCTTTGCTG	0.378000													14	72					1.3612e-06	1.56294e-06	0.479597	1	0
ITGB4	3691	broad.mit.edu	37	17	73736056	73736056	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:73736056C>T	ENST00000200181.3	+	20	2537	c.2350C>T	c.(2350-2352)Ctc>Ttc	p.L784F	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.L784F|ITGB4_ENST00000450894.3_Missense_Mutation_p.L784F|ITGB4_ENST00000339591.3_Missense_Mutation_p.L784F|ITGB4_ENST00000449880.2_Missense_Mutation_p.L784F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	784					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.L784F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCGGGAACCTCAAGGGCCG	0.607000													12	43					0	0	0.435327	0	0
TSC2	7249	broad.mit.edu	37	16	2130310	2130310	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:2130310C>T	ENST00000219476.3	+	30	4172	c.3542C>T	c.(3541-3543)aCg>aTg	p.T1181M	TSC2_ENST00000353929.4_Missense_Mutation_p.T1138M|TSC2_ENST00000401874.2_Missense_Mutation_p.T1137M|TSC2_ENST00000568454.1_Missense_Mutation_p.T1148M|TSC2_ENST00000439673.2_Missense_Mutation_p.T1101M|TSC2_ENST00000350773.4_Missense_Mutation_p.T1181M|TSC2_ENST00000382538.6_Missense_Mutation_p.T1089M	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1181					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	p.T1181M(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGAGAAGACGAACCTGGCG	0.667000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				20	119					0	0	0.557998	0	0
KCND2	3751	broad.mit.edu	37	7	119915472	119915472	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:119915472G>C	ENST00000331113.4	+	1	1751	c.786G>C	c.(784-786)atG>atC	p.M262I		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	262					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.M262I(1)		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)					GTAGTGTCATGAGTATCATCG	0.527000													10	78					0	0	0.361761	0	0
UNC93A	54346	broad.mit.edu	37	6	167708042	167708042	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:167708042C>A	ENST00000230256.3	+	2	300	c.125C>A	c.(124-126)gCg>gAg	p.A42E	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.A42E	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	42						integral to membrane|plasma membrane		p.A42E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGTGTCACAGCGCTCAGCACC	0.617000													32	120					5.77227e-19	8.89242e-19	0.729181	1	0
IL17A	3605	broad.mit.edu	37	6	52054023	52054023	+	Missense_Mutation	SNP	G	G	T	rs147810050	byFrequency	TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:52054023G>T	ENST00000340057.1	+	3	446	c.401G>T	c.(400-402)cGg>cTg	p.R134L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	134					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	p.R134L(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					AACTCCTTCCGGCTGGAGAAG	0.597000													35	49					8.04919e-23	1.31894e-22	0.870114	1	0
ATHL1	80162	broad.mit.edu	37	11	294668	294668	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:294668C>G	ENST00000409548.2	+	14	2248	c.2133C>G	c.(2131-2133)gaC>gaG	p.D711E	ATHL1_ENST00000409655.1_Missense_Mutation_p.D463E|ATHL1_ENST00000409479.1_Missense_Mutation_p.D738E	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	711					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	p.D534E(1)|p.D711E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGTTAGGGACCCGCTCCAGA	0.607000													38	250					0	0	0.840704	0	0
PTPRC	5788	broad.mit.edu	37	1	198691572	198691572	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:198691572G>T	ENST00000367376.2	+	15	1852	c.1681G>T	c.(1681-1683)Gga>Tga	p.G561*	PTPRC_ENST00000352140.3_Nonsense_Mutation_p.G513*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.G400*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.G402*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.G563*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	561	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.G561*(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGACTATCCTGGAGAACCCTT	0.224000													25	105					5.04308e-16	7.43877e-16	0.819951	1	0
DOPEY1	23033	broad.mit.edu	37	6	83845498	83845498	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:83845498G>T	ENST00000349129.2	+	20	3291	c.3031G>T	c.(3031-3033)Gta>Tta	p.V1011L	DOPEY1_ENST00000369739.3_Missense_Mutation_p.V1002L|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V992L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1011					protein transport			p.V1011L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAGGGTTTCAGTACAGCGTGT	0.443000													104	154					9.50263e-46	1.81849e-45	0.870114	1	0
HIST3H2BB	128312	broad.mit.edu	37	1	228646048	228646048	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:228646048G>T	ENST00000369160.2	+	1	241	c.218G>T	c.(217-219)cGc>cTc	p.R73L		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	73					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R73L(1)		skin(1)	1		Prostate(94;0.183)				ATCTTCGAGCGCATCGCCAGC	0.622000													48	113					8.44121e-28	1.46437e-27	0.870114	1	0
DSP	1832	broad.mit.edu	37	6	7585772	7585772	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:7585772C>A	ENST00000379802.3	+	24	8618	c.8277C>A	c.(8275-8277)cgC>cgA	p.R2759R	DSP_ENST00000418664.2_Silent_p.R2160R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2759	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.R2759R(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAGATGGCCGCGCCGCACAGA	0.522000													14	97					1.28384e-07	1.54293e-07	0.608945	1	0
SORL1	6653	broad.mit.edu	37	11	121391515	121391515	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:121391515A>T	ENST00000260197.7	+	9	1490	c.1361A>T	c.(1360-1362)cAg>cTg	p.Q454L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	454					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.Q454L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAGTTTCTTCAGGCTCCAGCC	0.418000													26	81					0	0	0.717897	0	0
RAG2	5897	broad.mit.edu	37	11	36615026	36615026	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:36615026G>T	ENST00000311485.3	-	2	854	c.693C>A	c.(691-693)gcC>gcA	p.A231A		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	231					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.A231A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGTACAGGTTGGCAGGCCGGA	0.463000									Familial Hemophagocytic Lymphohistiocytosis				22	119					6.33239e-15	9.13787e-15	0.592651	1	0
DOCK9	23348	broad.mit.edu	37	13	99452598	99452598	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:99452598C>G	ENST00000376460.1	-	53	5982	c.5902G>C	c.(5902-5904)Gcc>Ccc	p.A1968P	DOCK9_ENST00000339416.2_Missense_Mutation_p.A1955P	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1969	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.A1969P(1)|p.A1968P(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)					TCCACCTCGGCCGAGGAGCAC	0.612000													7	12					0	0	0.248553	0	0
RFX5	5993	broad.mit.edu	37	1	151316173	151316173	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:151316173C>T	ENST00000290524.4	-	9	919	c.741G>A	c.(739-741)aaG>aaA	p.K247K	RFX5_ENST00000452671.2_Silent_p.K247K|RFX5_ENST00000452513.2_Silent_p.K207K|RFX5_ENST00000368870.2_Silent_p.K247K	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	247						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K247K(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCCATGGCCTTAAGCACAT	0.557000													25	44					0	0	0.693898	0	0
LTBP1	4052	broad.mit.edu	37	2	33500061	33500061	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:33500061C>A	ENST00000404816.2	+	17	3126	c.2773C>A	c.(2773-2775)Ctc>Atc	p.L925I	LTBP1_ENST00000402934.1_Missense_Mutation_p.L546I|LTBP1_ENST00000407925.1_Missense_Mutation_p.L599I|LTBP1_ENST00000390003.4_Missense_Mutation_p.L600I|LTBP1_ENST00000354476.3_Missense_Mutation_p.L926I|LTBP1_ENST00000404525.1_Missense_Mutation_p.L546I|LTBP1_ENST00000418533.2_Missense_Mutation_p.L599I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	925	EGF-like 5; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.L926I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGTCCAACACCTCTGCTCCCA	0.418000													48	136					2.68985e-26	4.61613e-26	0.870114	1	0
C15orf59	388135	broad.mit.edu	37	15	74032524	74032524	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:74032524C>A	ENST00000569673.1	-	3	1820	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.G206C			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	206								p.G206C(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						tcctgctcaccgtccccctcc	0.652000													21	33					1.96292e-10	2.55532e-10	0.592651	1	0
SLIT3	6586	broad.mit.edu	37	5	168135053	168135053	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:168135053C>T	ENST00000519560.1	-	26	3191	c.2772G>A	c.(2770-2772)ccG>ccA	p.P924P	SLIT3_ENST00000404867.3_Silent_p.P924P|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Silent_p.P931P|CTC-558O2.1_ENST00000522615.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	924	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.P924P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATTCTTGCACGGGCTGGAGA	0.602000													5	59					0	0	0.307466	0	0
SEPT3	55964	broad.mit.edu	37	22	42377700	42377700	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr22:42377700C>A	ENST00000396425.3	+	2	193	c.62C>A	c.(61-63)cCc>cAc	p.P21H	SEPT3_ENST00000396426.3_Missense_Mutation_p.P21H|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000328414.8_Missense_Mutation_p.P21H|SEPT3_ENST00000406029.1_Intron	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	21					cell cycle|cytokinesis	cell junction|septin complex	GTP binding	p.P21H(2)		breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GTGCCTGAGCCCAGGCCTAAG	0.627000													20	28					4.59853e-10	5.90922e-10	0.693898	1	0
TPTE	7179	broad.mit.edu	37	21	10934954	10934954	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr21:10934954C>A	ENST00000298232.7	-	14	1152	c.785G>T	c.(784-786)cGa>cTa	p.R262L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R280L|TPTE_ENST00000342420.5_Missense_Mutation_p.R242L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	280	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R262Q(1)|p.R262L(1)|p.R280L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTGTAGACTCGATAGTGGTT	0.333000													43	167					4.64027e-19	7.17622e-19	0.870114	1	0
GCC2	9648	broad.mit.edu	37	2	109086647	109086647	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:109086647G>A	ENST00000309863.6	+	6	1576	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	288					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.E288K(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGAGGCAAGTGAAAAGAACAT	0.358000													50	165					0	0	0.870114	0	0
NDST4	64579	broad.mit.edu	37	4	115997446	115997446	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:115997446G>T	ENST00000264363.2	-	2	1425	c.747C>A	c.(745-747)agC>agA	p.S249R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	249	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.S249R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGAGTGTTTTGCTAGACAAGG	0.418000													109	121					3.0784e-53	5.97704e-53	0.870114	1	0
DBX1	120237	broad.mit.edu	37	11	20178655	20178655	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:20178655G>T	ENST00000524983.2	-	3	888	c.600C>A	c.(598-600)ttC>ttA	p.F200L	DBX1_ENST00000227256.3_Missense_Mutation_p.F200L			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	200					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F200_Q201>LK(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TCTGCTTCTGGAACATCTTCT	0.652000													5	32					4.096e-09	5.14741e-09	0.217242	1	0
TEX15	56154	broad.mit.edu	37	8	30701942	30701942	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:30701942G>T	ENST00000256246.2	-	1	4666	c.4592C>A	c.(4591-4593)aCa>aAa	p.T1531K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1531								p.T1531K(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTAGAAACTGTGTTCTTCAA	0.353000													75	231					1.31589e-24	2.20605e-24	0.870114	1	0
SYNE1	23345	broad.mit.edu	37	6	152722272	152722272	+	Splice_Site	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:152722272C>A	ENST00000367255.5	-	47	7631		c.e47+1		SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_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	p.?(3)		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)		TTATTACCTACCTTGACTTTT	0.338000										HNSCC(10;0.0054)			16	79					1.02788e-11	1.3879e-11	0.520397	1	0
FBXO18	84893	broad.mit.edu	37	10	5956140	5956140	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:5956140G>T	ENST00000379999.5	+	9	1561		c.e9-1		FBXO18_ENST00000397269.3_Splice_Site|FBXO18_ENST00000362091.4_Splice_Site|FBXO18_ENST00000379994.1_Splice_Site	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.?(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AATGATTATAGCAAGAAAACC	0.388000													53	166					1.0442e-30	1.85998e-30	0.870114	1	0
IL12RB2	3595	broad.mit.edu	37	1	67787288	67787288	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:67787288C>G	ENST00000262345.1	+	3	720	c.80C>G	c.(79-81)gCg>gGg	p.A27G	IL12RB2_ENST00000544434.1_Missense_Mutation_p.A27G|IL12RB2_ENST00000371000.1_Missense_Mutation_p.A27G|IL12RB2_ENST00000541374.1_Missense_Mutation_p.A27G	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	27					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.A27G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ATTGCAGATGCGTGCAAGAGA	0.378000													62	133					0	0	0.870114	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144555	12144555	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:12144555C>A	ENST00000263932.2	+	2	320	c.98C>A	c.(97-99)cCc>cAc	p.P33H	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	33					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CATGGAAACCCCAGCCACTAC	0.592000													44	47					5.7616e-29	1.01272e-28	0.870114	1	0
OR4M1	441670	broad.mit.edu	37	14	20248811	20248811	+	Silent	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:20248811G>C	ENST00000315957.4	+	1	411	c.330G>C	c.(328-330)tcG>tcC	p.S110S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGGGCTTCGGAGATGTTCT	0.483000													91	691					0	0	0.870114	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													4	22					0	0	0.184627	0	0
IL1F10	84639	broad.mit.edu	37	2	113832767	113832767	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:113832767G>A	ENST00000393197.2	+	4	706	c.285G>A	c.(283-285)gaG>gaA	p.E95E	IL1F10_ENST00000337569.3_Silent_p.E95E|IL1F10_ENST00000341010.2_Silent_p.E95E	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	95						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.E95E(1)		endometrium(1)|lung(6)|ovary(1)	8						GTGGTGAAGAGGCCACACGCT	0.602000													52	306					0	0	0.870114	0	0
BCL9L	283149	broad.mit.edu	37	11	118769541	118769541	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:118769541G>A	ENST00000334801.3	-	8	5047	c.4083C>T	c.(4081-4083)aaC>aaT	p.N1361N	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1361	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.N1361N(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGTTCTGCAGGTTCATGAGAT	0.622000													12	64					0	0	0.457914	0	0
NXPE2	120406	broad.mit.edu	37	11	114569276	114569276	+	Silent	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr11:114569276C>A	ENST00000375475.5	+	3	740	c.642C>A	c.(640-642)atC>atA	p.I214I	NXPE2_ENST00000389586.4_Silent_p.I214I					neurexophilin and PC-esterase domain family, member 2									p.I214I(2)									GTGATAGGATCATCTTCACTG	0.517000													4	19					0.150653	0.152759	0.150653	1	0
RFTN1	23180	broad.mit.edu	37	3	16475526	16475526	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:16475526G>A	ENST00000334133.4	-	3	436	c.164C>T	c.(163-165)tCa>tTa	p.S55L	RFTN1_ENST00000432519.1_Missense_Mutation_p.S19L	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	55						plasma membrane		p.S55L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CCTCACTGCTGAGGACCCAGG	0.667000													5	25					0	0	0.248553	0	0
OVCH1	341350	broad.mit.edu	37	12	29592260	29592260	+	Splice_Site	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:29592260C>A	ENST00000318184.5	-	26	3264		c.e26+1		OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.?(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					gagttactcaccactgaattt	0.308000													4	27					0.00024832	0.000264919	0.150653	1	0
SDCCAG3	10807	broad.mit.edu	37	9	139299578	139299578	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:139299578C>A	ENST00000298537.7	-	6	1112	c.901G>T	c.(901-903)Gtt>Ttt	p.V301F	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.V251F|SDCCAG3_ENST00000461693.1_5'UTR|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.V324F	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	324						cytoplasm		p.V324F(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		ACCTGCTGAACCACCGACTCC	0.532000													32	113					6.05902e-23	9.96927e-23	0.788014	1	0
BMP7	655	broad.mit.edu	37	20	55748170	55748170	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:55748170G>C	ENST00000450594.2	-	6	1738	c.1232C>G	c.(1231-1233)cCt>cGt	p.P411R	BMP7_ENST00000395863.3_Intron|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_Intron			P18075	BMP7_HUMAN	bone morphogenetic protein 7	0					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CATCTACTCAGGCCCCAGCTT	0.547000													7	14					0	0	0.307466	0	0
C10orf11	83938	broad.mit.edu	37	10	78316967	78316967	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr10:78316967G>T	ENST00000496424.2	+	3	965	c.88_splice	c.e3-1	p.G30_splice	C10orf11_ENST00000593699.1_3'UTR|C10orf11_ENST00000372499.1_Splice_Site_p.G173_splice			Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	173								p.G173V(1)		endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					TTATTTGCAGGTGTCCTGGGG	0.448000													32	37					5.60225e-13	7.80209e-13	0.740014	1	0
ACTC1	70	broad.mit.edu	37	15	35084612	35084612	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr15:35084612T>A	ENST00000290378.4	-	4	1268	c.613A>T	c.(613-615)Act>Tct	p.T205S	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	205					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	p.T205S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CACTCACCAGTGGTGACAAAG	0.537000													11	41					0	0	0.361761	0	0
DNM1	1759	broad.mit.edu	37	9	130985090	130985090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:130985090G>T	ENST00000341179.7	+	9	1239	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	DNM1_ENST00000372923.3_Nonsense_Mutation_p.E383*|DNM1_ENST00000393594.3_Nonsense_Mutation_p.E383*|DNM1_ENST00000486160.1_Nonsense_Mutation_p.E383*|DNM1_ENST00000475805.1_Nonsense_Mutation_p.E383*	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	383					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.E383*(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TGATGAGAAGGAACTCCGAAG	0.542000													10	64					0.010729	0.0111048	0.387290	1	0
SLC6A14	11254	broad.mit.edu	37	X	115590106	115590106	+	Silent	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:115590106C>T	ENST00000371900.4	+	14	2002	c.1914C>T	c.(1912-1914)agC>agT	p.S638S	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	638					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.S638S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTAGTGGCAGCAGAAAACCGG	0.358000													48	80					0	0	0.870114	0	0
FIBCD1	84929	broad.mit.edu	37	9	133780732	133780732	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr9:133780732C>T	ENST00000372338.4	-	6	1257	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Missense_Mutation_p.E181K|FIBCD1_ENST00000448616.1_Missense_Mutation_p.E339K	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	339	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	p.E339K(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GTGCCATTCTCAAAGTCCTCC	0.612000													4	18					0	0	0.184627	0	0
KRT26	353288	broad.mit.edu	37	17	38926035	38926035	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:38926035C>G	ENST00000335552.4	-	5	988	c.940G>C	c.(940-942)Gaa>Caa	p.E314Q		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	314	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.E314Q(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGTTCTATTTCCAGGGTTTGC	0.418000													28	149					0	0	0.760397	0	0
ZNF479	90827	broad.mit.edu	37	7	57194386	57194386	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:57194386G>T	ENST00000331162.4	-	3	349	c.79C>A	c.(79-81)Ctg>Atg	p.L27M		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L27M(1)		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)			CATTCCTCCAGAGAGAATTCT	0.438000													30	75					3.99451e-17	6.02574e-17	0.740014	1	0
PRPF40B	25766	broad.mit.edu	37	12	50037148	50037148	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:50037148G>T	ENST00000261897.1	+	22	2797	c.2246G>T	c.(2245-2247)cGg>cTg	p.R749L	PRPF40B_ENST00000548825.2_Missense_Mutation_p.R783L|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R762L|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	762					mRNA processing|RNA splicing	nuclear speck		p.R762L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CTTGGAGGACGGGGCTCCCCT	0.597000													26	174					2.79863e-10	3.63731e-10	0.681144	1	0
MYOCD	93649	broad.mit.edu	37	17	12666814	12666814	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr17:12666814G>T	ENST00000425538.1	+	14	3014	c.2814G>T	c.(2812-2814)atG>atT	p.M938I	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.M890I	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	890					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.M890I(1)|p.M938I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGGAAACCATGGAGTGGCTGG	0.552000													28	38					4.65686e-17	7.01166e-17	0.788014	1	0
PXDNL	137902	broad.mit.edu	37	8	52258433	52258433	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:52258433G>T	ENST00000356297.4	-	20	4076	c.3976C>A	c.(3976-3978)Cct>Act	p.P1326T	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1326					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P1326T(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTATCAACAGGATAGCTGTAT	0.388000													6	122					2.7689e-08	3.40984e-08	0.248553	1	0
CDK8	1024	broad.mit.edu	37	13	26927935	26927935	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:26927935G>T	ENST00000381527.3	+	4	877	c.374G>T	c.(373-375)cGg>cTg	p.R125L	CDK8_ENST00000536792.1_Missense_Mutation_p.R125L	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	125	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.R125L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CAGTTACCTCGGGGAATGGTG	0.373000													26	49					7.07758e-08	8.57042e-08	0.681144	1	0
AKAP11	11215	broad.mit.edu	37	13	42869852	42869852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:42869852G>T	ENST00000025301.2	+	5	365	c.190G>T	c.(190-192)Gaa>Taa	p.E64*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	64					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.E64*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GGGTTTTAATGAAGAGACAGA	0.353000													56	128					8.4772e-36	1.55513e-35	0.870114	1	0
DSE	29940	broad.mit.edu	37	6	116757588	116757588	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:116757588C>T	ENST00000331677.3	+	7	2401	c.1957C>T	c.(1957-1959)Ctc>Ttc	p.L653F	DSE_ENST00000359564.2_Missense_Mutation_p.L653F|DSE_ENST00000452085.3_Missense_Mutation_p.L653F|DSE_ENST00000537543.1_Missense_Mutation_p.L672F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	653					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.L653F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CACCATGCACCTCCGAAGTCC	0.507000													73	89					0	0	0.870114	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110034140	110034140	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:110034140G>C	ENST00000369870.3	+	10	1970	c.1955G>C	c.(1954-1956)gGa>gCa	p.G652A	ATXN7L2_ENST00000459635.1_3'UTR	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	652								p.G652A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAGCAGCTGGACACCCAGCC	0.627000													7	41					0	0	0.335167	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104227	142104227	+	RNA	SNP	G	G	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:142104227G>C	ENST00000390379.1	-	0	237																											TAGCCATCGGGGACTTCTCCT	0.522000													83	141					0	0	0.870114	0	0
FAM135B	51059	broad.mit.edu	37	8	139160791	139160791	+	Silent	SNP	G	G	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:139160791G>A	ENST00000395297.1	-	14	3590	c.3420C>T	c.(3418-3420)caC>caT	p.H1140H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1140								p.H1140H(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGACAACCAGGTGAATTCCAT	0.348000										HNSCC(54;0.14)			35	135					0	0	0.827153	0	0
MCM9	254394	broad.mit.edu	37	6	119252870	119252870	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr6:119252870T>C	ENST00000316316.6	-	2	305	c.19A>G	c.(19-21)Aca>Gca	p.T7A	MCM9_ENST00000316068.3_Missense_Mutation_p.T7A	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	7					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	p.T7A(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CCAACCAGTGTAACTTGATCG	0.313000													33	50					0	0	0.750413	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815565	106815565	+	Silent	SNP	T	T	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:106815565T>A	ENST00000407775.2	+	8	3505	c.3255T>A	c.(3253-3255)gcT>gcA	p.A1085A	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.A816A|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Silent_p.A953A|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.A953A|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1085					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.A1085A(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACCCATTAGCTGCCAATGAGA	0.507000													6	55					0	0	0.217242	0	0
IQSEC1	9922	broad.mit.edu	37	3	12949849	12949849	+	Splice_Site	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:12949849C>A	ENST00000273221.4	-	12	3013	c.2797_splice	c.e12+1	p.G933_splice		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	933					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	p.G933W(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGCTCTTACCGGCTTCCGAG	0.672000													7	14					4.68919e-08	5.69554e-08	0.361761	1	0
NAPEPLD	222236	broad.mit.edu	37	7	102760290	102760290	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:102760290C>G	ENST00000417955.1	-	3	829	c.675G>C	c.(673-675)gaG>gaC	p.E225D	NAPEPLD_ENST00000427257.1_Missense_Mutation_p.E225D|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.E225D|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.E225D|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.E298D			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	225					phospholipid catabolic process	membrane	metal ion binding	p.E225D(1)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAATCACATTCTCACAGCCAC	0.448000													22	103					0	0	0.624587	0	0
RASAL2	9462	broad.mit.edu	37	1	178425834	178425834	+	Splice_Site	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:178425834G>T	ENST00000448150.3	+	13	2975		c.e13-1		RASAL2_ENST00000367649.3_Intron|RASAL2_ENST00000462775.1_Splice_Site	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.?(2)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TATCCAATTAGGGTGAAAATT	0.468000													122	383					4.37143e-48	8.38557e-48	0.870114	1	0
IER2	9592	broad.mit.edu	37	19	13264219	13264219	+	Silent	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:13264219G>T	ENST00000588173.1	+	1	1431	c.219G>T	c.(217-219)ccG>ccT	p.P73P	CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000587885.1_Silent_p.P73P|CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000292433.3_Silent_p.P73P			Q9BTL4	IER2_HUMAN	immediate early response 2	73								p.P73P(1)		kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GCCTGCACCCGCCCCGAGAAG	0.721000											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	6					2.17888e-05	2.41492e-05	0.335167	1	0
NPEPL1	79716	broad.mit.edu	37	20	57269554	57269554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:57269554C>A	ENST00000356091.6	+	3	701	c.413C>A	c.(412-414)tCa>tAa	p.S138*	NPEPL1_ENST00000525817.1_Nonsense_Mutation_p.S90*|NPEPL1_ENST00000525967.1_Nonsense_Mutation_p.S110*|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	138					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	p.S138*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			ACCCACCGCTCAGGTGCCTCT	0.637000													21	57					3.08376e-08	3.7743e-08	0.654019	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68222716	68222716	+	Silent	SNP	T	T	C			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:68222716T>C	ENST00000347230.4	-	36	6873	c.6735A>G	c.(6733-6735)ttA>ttG	p.L2245L	ZFYVE26_ENST00000557306.1_Silent_p.L91L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2245					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.L2245L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTTCTTCTGTAAATGTTGGC	0.473000													186	321					0	0	0.870114	0	0
SPATC1	375686	broad.mit.edu	37	8	145095304	145095304	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr8:145095304C>T	ENST00000377470.3	+	2	808	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	SPATC1_ENST00000447830.2_Missense_Mutation_p.R236C	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	236								p.R145C(1)|p.R236C(1)		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)			TGAGCCACTCCGCGGAGGCCC	0.682000													9	28					0	0	0.539581	0	0
RYR2	6262	broad.mit.edu	37	1	237780736	237780736	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:237780736G>T	ENST00000366574.2	+	38	6183	c.5866G>T	c.(5866-5868)Gca>Tca	p.A1956S	RYR2_ENST00000360064.6_Missense_Mutation_p.A1954S|RYR2_ENST00000542537.1_Missense_Mutation_p.A1940S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1956	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	p.A1954S(1)		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)			CATGTCAGCTGCACTCACAGC	0.398000													23	66					2.41591e-17	3.65825e-17	0.681144	1	0
CCDC30	728621	broad.mit.edu	37	1	43002200	43002201	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:43002200_43002201delAG	ENST00000428554.2	+	9	1188_1189	c.45_46delAG	c.(43-48)aaagfs	p.KE15fs	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Frame_Shift_Del_p.KE15fs|CCDC30_ENST00000340612.4_Frame_Shift_Del_p.KE15fs			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	15										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGTGGTCAAAAGAGAGAGAGAG	0.356													11	190	---	---	---	---					
KCNH1	3756	broad.mit.edu	37	1	211192527	211192527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:211192527delG	ENST00000367007.4	-	6	799	c.630delC	c.(628-630)atfs	p.I210fs	KCNH1_ENST00000271751.4_Frame_Shift_Del_p.I210fs	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	210					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AATAATGTAAGATGATGTGAG	0.443													38	139	---	---	---	---					
OR2T11	127077	broad.mit.edu	37	1	248789984	248789984	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr1:248789984delC	ENST00000330803.2	-	1	507	c.446delG	c.(445-447)gcfs	p.G149fs		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCGAGGGAGCCCCCAAACCA	0.527													24	85	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187532439	187532439	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:187532439delG	ENST00000261023.3	+	24	2643	c.2369delG	c.(2368-2370)tgfs	p.W790fs	ITGAV_ENST00000374907.3_Frame_Shift_Del_p.W754fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.W744fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	790					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ATTCCAAACTGGGAGCACAAG	0.408													18	93	---	---	---	---					
SP110	3431	broad.mit.edu	37	2	231076245	231076245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr2:231076245delG	ENST00000258381.6	-	6	768	c.691delC	c.(691-693)aafs	p.Q231fs	SP110_ENST00000258382.5_Frame_Shift_Del_p.Q231fs|SP110_ENST00000392048.3_Frame_Shift_Del_p.Q231fs|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000358662.4_Frame_Shift_Del_p.Q231fs|SP110_ENST00000540870.1_Frame_Shift_Del_p.Q237fs	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	231					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTCTTATTTGGGGGATCAGG	0.458													9	76	---	---	---	---					
MYL3	4634	broad.mit.edu	37	3	46904801	46904801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:46904801delG	ENST00000395869.1	-	1	131	c.80delC	c.(79-81)ctfs	p.P27fs	MYL3_ENST00000292327.4_Frame_Shift_Del_p.P27fs			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	27					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CTCAGGCTCAGGGGGAGGTGC	0.587													51	128	---	---	---	---					
GLT8D1	55830	broad.mit.edu	37	3	52731871	52731873	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr3:52731871_52731873delCTC	ENST00000407584.3	-	5	1043_1045	c.193_195delGAG	c.(193-195)del	p.E65del	GLT8D1_ENST00000491606.1_In_Frame_Del_p.E65del|GLT8D1_ENST00000266014.5_In_Frame_Del_p.E65del|GLT8D1_ENST00000394783.3_In_Frame_Del_p.E65del|GLT8D1_ENST00000478968.2_In_Frame_Del_p.E65del	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	65						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCACAGGAATCTCCTCTTGTCTC	0.483													19	124	---	---	---	---					
KIAA1109	84162	broad.mit.edu	37	4	123167293	123167309	+	Splice_Site	DEL	TACGATCTTTTTAGTTA	TACGATCTTTTTAGTTA	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr4:123167293_123167309delTACGATCTTTTTAGTTA	ENST00000264501.4	+	33	5410_5413	c.5037_splice	c.e33-1	p.1679_splice	KIAA1109_ENST00000455637.1_Splice_Site_p.1679_splice|KIAA1109_ENST00000388738.3_Splice_Site_p.1679_splice			Q2LD37	K1109_HUMAN	KIAA1109	1679					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						TAATTTCACTTACGATCTTTTTAGTTATCTTCCAAAC	0.392													22	46	---	---	---	---					
PPARGC1B	133522	broad.mit.edu	37	5	149206292	149206292	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr5:149206292delC	ENST00000309241.5	+	3	341	c.309delC	c.(307-309)atfs	p.I103fs	PPARGC1B_ENST00000394320.3_Frame_Shift_Del_p.I103fs|PPARGC1B_ENST00000403750.1_Frame_Shift_Del_p.I78fs|PPARGC1B_ENST00000360453.4_Frame_Shift_Del_p.I103fs	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	103					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGATGACATCCCTGAAGATG	0.607													33	143	---	---	---	---					
HOXA11-AS	221883	broad.mit.edu	37	7	27224978	27224978	+	RNA	DEL	T	T	-	rs67321459		TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr7:27224978delT	ENST00000522863.1	+	0	574				HOXA11-AS_ENST00000520360.1_RNA																							CCCCCTTTCCTTTTTTTTTTT	0.527											OREG0003746|OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=HOXA11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2	4	---	---	---	---					
MRPS35	60488	broad.mit.edu	37	12	27869349	27869349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:27869349delG	ENST00000081029.3	+	3	350	c.279delG	c.(277-279)aafs	p.K93fs	MRPS35_ENST00000538315.1_Frame_Shift_Del_p.K93fs	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	93					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CAGTAAAAAAGGGCGTGCCCA	0.438													67	91	---	---	---	---					
FAM71C	196472	broad.mit.edu	37	12	100042354	100042354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr12:100042354delA	ENST00000324341.1	+	1	824	c.402delA	c.(400-402)gtfs	p.V134fs	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	134										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ACAACAGCGTAAAAAAACAGC	0.478													41	129	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													4	6	---	---	---	---					
TRAV9-1	28678	broad.mit.edu	37	14	22279846	22279846	+	RNA	DEL	T	T	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr14:22279846delT	ENST00000390431.3	+	0	46																											AATTTGTTTATTTTTTTTTCA	0.408													7	16	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48733782	48733783	+	Frame_Shift_Ins	INS	-	-	G			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:48733782_48733783insG	ENST00000391898.3	-	7	989_990	c.947_948insC	c.(946-948)atcfs	p.I316fs	CARD8_ENST00000520753.1_Frame_Shift_Ins_p.I316fs|CARD8_ENST00000357778.5_Frame_Shift_Ins_p.I41fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.I316fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.I266fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.I266fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.I316fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I210fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.I266fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	210					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		ATGTGTTGGAAGTGATGGGGAT	0.540													32	52	---	---	---	---					
PPP6R1	22870	broad.mit.edu	37	19	55751401	55751401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr19:55751401delC	ENST00000412770.2	-	12	2009	c.1443delG	c.(1441-1443)ggfs	p.G481fs	PPP6R1_ENST00000587283.1_Frame_Shift_Del_p.G481fs	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	481					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CTGCATTGGGCCCCTTCTCCG	0.662													2	4	---	---	---	---					
PTGIS	5740	broad.mit.edu	37	20	48130834	48130834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr20:48130834delC	ENST00000244043.4	-	7	983	c.954delG	c.(952-954)tgfs	p.W318fs	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	318					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GCTCCGCTTGCCAAAGGATAC	0.582													25	78	---	---	---	---					
IFNAR2	3455	broad.mit.edu	37	21	34635794	34635796	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr21:34635794_34635796delATA	ENST00000342136.4	+	9	1863_1865	c.1537_1539delATA	c.(1537-1539)del	p.I513del	AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_In_Frame_Del_p.I513del|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000404220.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	513					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGATGGTTATATAATGAGATGAC	0.468													10	96	---	---	---	---					
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													3	4	---	---	---	---					
MAGEB17	645864	broad.mit.edu	37	X	16189451	16189451	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4625-01A-01D-1553-08	TCGA-38-4625-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f317d31-c9a4-4345-b5b1-b75776536402	fd427c46-8988-4947-9cc1-c129b6c3981a	g.chrX:16189451delG	ENST00000400004.2	+	2	1298	c.946delG	c.(946-948)ccfs	p.A316fs	MAGEB17_ENST00000400003.1_Frame_Shift_Del_p.A316fs|MAGEB17_ENST00000329538.5_Frame_Shift_Del_p.316fs	NM_001277307.1	NP_001264236.1			melanoma antigen family B, 17																		GGAAGAGCAAGCCAGAGCCAG	0.537													3	4	---	---	---	---					
