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
CXCR3	2833	broad.mit.edu	37	X	70837223	70837223	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:70837223C>G	ENST00000373691.4	-	2	403	c.240G>C	c.(238-240)gaG>gaC	p.E80D	CXCR3_ENST00000373693.3_Missense_Mutation_p.E33D	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	33					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					ACGAGTCACTCTCGTTTTCTC	0.592000													9	2					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5711913	5711913	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:5711913C>T	ENST00000360614.3	-	4	896	c.739G>A	c.(739-741)Gag>Aag	p.E247K	LONP1_ENST00000593119.1_Missense_Mutation_p.E183K|LONP1_ENST00000590729.1_Missense_Mutation_p.E133K|LONP1_ENST00000540670.2_Missense_Mutation_p.E51K|LONP1_ENST00000585374.1_Missense_Mutation_p.E133K	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	247	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCTCGTCCTCCGCCTCCTTC	0.652000													10	41					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70504256	70504256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:70504256C>T	ENST00000288078.6	+	11	1227	c.995C>T	c.(994-996)tCa>tTa	p.S332L	FUK_ENST00000378912.2_Missense_Mutation_p.S364L|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	332						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				ATGACCTCCTCAGCCAGTGAG	0.627000													26	134					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86810644	86810644	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:86810644G>C	ENST00000394703.5	+	11	1260	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000331242.7_Missense_Mutation_p.E233Q|DMTF1_ENST00000432937.2_Missense_Mutation_p.E145Q|DMTF1_ENST00000411766.2_Missense_Mutation_p.E192Q|DMTF1_ENST00000394702.3_Missense_Mutation_p.E233Q|DMTF1_ENST00000413276.2_Missense_Mutation_p.E233Q	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	233	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TGAAGAAATTGAGAAGCTCAA	0.229000													18	31					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17992815	17992815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:17992815G>A	ENST00000222248.3	+	9	1452	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	369					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CACTGTAGAAGACCTCATCAA	0.587000													20	28					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609660	84609660	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:84609660C>T	ENST00000344803.2	+	4	4322	c.4275C>T	c.(4273-4275)atC>atT	p.I1425I		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GGATAGATATCACCTGTCCCC	0.527000													5	26					0	0	1	0	0
TP53I11	9537	broad.mit.edu	37	11	44959862	44959862	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:44959862G>C	ENST00000533940.1	-	5	629	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V	TP53I11_ENST00000395648.3_Missense_Mutation_p.L9V|TP53I11_ENST00000525680.1_Missense_Mutation_p.L9V|TP53I11_ENST00000308212.5_Missense_Mutation_p.L9V|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000531928.2_Missense_Mutation_p.L9V	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	9					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						TTCTTCATCAGAGGCGGGGGC	0.667000													8	6					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17603328	17603328	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:17603328G>A	ENST00000375460.3	+	13	1552	c.1512G>A	c.(1510-1512)caG>caA	p.Q504Q		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	504					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAAAAGCAGAAGTGTGGCC	0.612000													3	15					0	0	1	0	0
EVI2A	2123	broad.mit.edu	37	17	29645536	29645536	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:29645536G>C	ENST00000247270.3	-	3	901	c.565C>G	c.(565-567)Ctc>Gtc	p.L189V	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|NF1_ENST00000581113.2_3'UTR|EVI2A_ENST00000461237.1_Missense_Mutation_p.L166V|EVI2A_ENST00000462804.2_Missense_Mutation_p.L166V|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.S105C	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	166						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GATCGTCTGAGAGAAGAGACT	0.413000													32	41					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62198677	62198677	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:62198677G>A	ENST00000467148.1	-	6	2103	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	HELZ2_ENST00000427522.2_Silent_p.L109L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCAGCGGGGTGAGGGCCTCGC	0.697000													5	9					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67375868	67375868	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:67375868G>C	ENST00000329956.6	+	2	98	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	LRRC36_ENST00000563303.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	27										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AGAACTGGTGGAGTCTCTTTC	0.403000													17	55					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99669977	99669977	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:99669977C>T	ENST00000336292.6	+	5	1529	c.1409C>T	c.(1408-1410)tCg>tTg	p.S470L	SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.S470L|SYNM_ENST00000560674.1_Missense_Mutation_p.S185L	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	471	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCCCGCGAGTCGTACCGGGAT	0.522000													11	19					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30097547	30097547	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:30097547A>C	ENST00000380752.5	-	7	1291	c.905T>G	c.(904-906)tTt>tGt	p.F302C		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	302					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGACACCCCAAAGTAGGCGAT	0.602000													6	30					0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104323	26104323	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:26104323C>G	ENST00000377803.2	+	1	220	c.148C>G	c.(148-150)Ctt>Gtt	p.L50V		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	50					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						CATTTCCGGTCTTATCTATGA	0.532000													44	11					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223396972	223396972	+	Splice_Site	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:223396972C>A	ENST00000343846.3	-	7	1696	c.1063G>T	c.(1063-1065)Ggg>Tgg	p.G355W	SUSD4_ENST00000494793.2_Splice_Site_p.G355W|SUSD4_ENST00000366878.4_Splice_Site_p.G355W|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000484758.2_Splice_Site_p.G286W|SUSD4_ENST00000454695.2_Splice_Site_p.G195W			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	355						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CGGGGAGGCCCCCTGTGTAAA	0.612000													6	8					0.00448238	0.004531	1	1	0
TTN	7273	broad.mit.edu	37	2	179397638	179397638	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:179397638C>T	ENST00000589042.1	-	358	103928	c.103704G>A	c.(103702-103704)atG>atA	p.M34568I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M32927I|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M32000I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M25503I|TTN_ENST00000342175.6_Missense_Mutation_p.M25695I|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M25628I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32927							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATACCACTTCATGTCAGACA	0.463000													36	30					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	124424	124424	+	RNA	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:124424C>T	ENST00000510175.1	+	0	5							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GTTAGGGCCTCATCGCTCTGC	0.602000													8	16					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112326101	112326101	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:112326101G>A	ENST00000206423.3	-	7	3381	c.2428C>T	c.(2428-2430)Ctg>Ttg	p.L810L	CCDC80_ENST00000439685.2_Silent_p.L810L	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	810										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						ATGTGGCGCAGACCTGAGAGA	0.363000													11	32					0	0	1	0	0
C12orf55	144535	broad.mit.edu	37	12	97045453	97045453	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:97045453C>T	ENST00000524981.4	+	36	4983	c.4960C>T	c.(4960-4962)Ctt>Ttt	p.L1654F						chromosome 12 open reading frame 55																		ACAAATACTTCTTAAACAGGC	0.413000													4	111					0	0	1	0	0
CCDC127	133957	broad.mit.edu	37	5	205849	205849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:205849C>T	ENST00000296824.3	-	3	478	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	116										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			AGCTTCTTTTCTTCTACCAAC	0.493000													60	76					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053024	11053024	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:11053024G>A	ENST00000295082.1	+	1	962	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	158						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGACGCAGCCGAGGGCCGCTG	0.692000													11	27					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48880471	48880471	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:48880471G>A	ENST00000314014.2	+	4	228	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	C12orf54_ENST00000548364.1_Splice_Site_p.E33K|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	33										endometrium(1)|large_intestine(4)	5						ATTTCTACAGGAAAAACAGGT	0.438000													32	32					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7721873	7721873	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:7721873C>T	ENST00000486284.1	+	9	2863	c.2589C>T	c.(2587-2589)ttC>ttT	p.F863F	GRM7_ENST00000402647.2_Silent_p.F863F|GRM7_ENST00000357716.4_Silent_p.F863F|GRM7_ENST00000403881.1_Silent_p.F863F|GRM7_ENST00000389336.4_Silent_p.F863F	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	863					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGCGAAGCTTCAAGGCGGTAG	0.517000													19	42					0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44395890	44395890	+	Silent	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:44395890C>A	ENST00000262915.3	+	13	1509	c.1332C>A	c.(1330-1332)atC>atA	p.I444I	ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000372367.1_3'UTR|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000372368.2_Silent_p.I429I|ST3GAL3_ENST00000361746.4_Silent_p.I444I|ST3GAL3_ENST00000353126.3_Silent_p.I277I|ST3GAL3_ENST00000372374.2_Silent_p.I344I|ST3GAL3_ENST00000531993.1_Silent_p.I261I|ST3GAL3_ENST00000372375.2_Silent_p.I429I|ST3GAL3_ENST00000372369.1_Silent_p.I345I|ST3GAL3_ENST00000528371.1_3'UTR|ST3GAL3_ENST00000372372.2_Silent_p.I413I|ST3GAL3_ENST00000533933.1_Silent_p.I277I|ST3GAL3_ENST00000545417.1_3'UTR|ST3GAL3_ENST00000372366.1_3'UTR|ST3GAL3_ENST00000361400.4_Silent_p.I359I|ST3GAL3_ENST00000330208.2_3'UTR|ST3GAL3_ENST00000531816.1_3'UTR|ST3GAL3_ENST00000361392.4_Silent_p.I375I|ST3GAL3_ENST00000332628.6_Silent_p.I344I|ST3GAL3_ENST00000351035.3_Silent_p.I413I|ST3GAL3_ENST00000372365.1_3'UTR|ST3GAL3_ENST00000347631.2_Silent_p.I390I	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	375					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GCAGTGGCATCTGAGTGGGCC	0.567000													45	101					6.61955e-31	7.08315e-31	1	1	0
PLK4	10733	broad.mit.edu	37	4	128814936	128814936	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:128814936C>T	ENST00000270861.5	+	13	2736	c.2462C>T	c.(2461-2463)tCt>tTt	p.S821F	PLK4_ENST00000513090.1_Missense_Mutation_p.S789F|PLK4_ENST00000507249.1_Missense_Mutation_p.S760F|PLK4_ENST00000515069.1_Missense_Mutation_p.S743F|PLK4_ENST00000514379.1_Missense_Mutation_p.S780F	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	821					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CCTCCTCCTTCTGTGGATTCA	0.423000													41	123					0	0	1	0	0
EMX2	2018	broad.mit.edu	37	10	119303150	119303150	+	Silent	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:119303150C>A	ENST00000553456.3	+	1	1196	c.372C>A	c.(370-372)atC>atA	p.I124I	EMX2_ENST00000442245.4_Silent_p.I124I|EMX2OS_ENST00000551288.1_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	124						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CCTGGCTCATCCACCGCTACC	0.692000													32	22					1.21669e-08	1.26276e-08	1	1	0
MAP3K4	4216	broad.mit.edu	37	6	161470150	161470150	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:161470150C>A	ENST00000392142.4	+	3	994	c.846C>A	c.(844-846)ttC>ttA	p.F282L	MAP3K4_ENST00000348824.7_Missense_Mutation_p.F282L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.F282L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.F282L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	282					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACCAGGACTTCTTTTTATATA	0.428000													39	11					1.48734e-19	1.58423e-19	1	1	0
BLM	641	broad.mit.edu	37	15	91341440	91341440	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:91341440G>C	ENST00000355112.3	+	17	3349	c.3231G>C	c.(3229-3231)gtG>gtC	p.V1077V	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Silent_p.V1077V	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1077					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CAAGAGATGTGACTGACGATG	0.294000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				14	21					0	0	1	0	0
FCRLB	127943	broad.mit.edu	37	1	161696749	161696749	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:161696749G>A	ENST00000336830.5	+	5	741	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	FCRLB_ENST00000367944.3_Missense_Mutation_p.E236K|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.G229E|FCRLB_ENST00000367948.2_Silent_p.R277R|FCRLB_ENST00000392158.1_Silent_p.R277R|FCRLB_ENST00000367945.1_Missense_Mutation_p.G222E			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	0						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GCAGTGTCCGGAAACGCAGTC	0.716000													3	18					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114441858	114441858	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:114441858C>G	ENST00000375478.3	-	6	1617	c.1437G>C	c.(1435-1437)gaG>gaC	p.E479D	NXPE4_ENST00000424261.2_Missense_Mutation_p.E195D	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		CATTGTACATCTCCCTGATGT	0.388000													14	52					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923512	226923512	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:226923512G>C	ENST00000429204.1	-	2	1975	c.1648C>G	c.(1648-1650)Caa>Gaa	p.Q550E	ITPKB_ENST00000366784.1_Missense_Mutation_p.Q550E|ITPKB_ENST00000272117.3_Missense_Mutation_p.Q550E	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	550							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TCCGGATCTTGGGGTAGCAGC	0.607000													8	18					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356473	42356473	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:42356473C>T	ENST00000554171.1	+	5	3077	c.645C>T	c.(643-645)ctC>ctT	p.L215L	LRFN5_ENST00000298119.4_Silent_p.L215L|LRFN5_ENST00000554120.1_Silent_p.L215L			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	215						integral to membrane				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)		CTGACCCTCTCTTTCAGCGAG	0.428000										HNSCC(30;0.082)			20	41					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88916288	88916288	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:88916288C>G	ENST00000277141.6	-	27	4614	c.2190G>C	c.(2188-2190)aaG>aaC	p.K730N	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.K1205N|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.K1441N|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.K341N|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.K1403N			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1441					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CATCCTGTCTCTTCCATTTTT	0.463000													13	32					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712718	70712718	+	RNA	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:70712718G>C	ENST00000530196.1	-	0	1800					NR_003951.1																						TCAGAGATATGACATTTTAGG	0.383000													5	104					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159842170	159842170	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:159842170T>A	ENST00000297151.4	-	2	519	c.132A>T	c.(130-132)aaA>aaT	p.K44N		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	44					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATTGCCCAATTTTCGCTGTT	0.398000													16	56					0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89449021	89449021	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:89449021G>C	ENST00000539437.1	-	6	764	c.628C>G	c.(628-630)Ctg>Gtg	p.L210V	MFGE8_ENST00000542878.1_Missense_Mutation_p.L174V|MFGE8_ENST00000268151.7_Missense_Mutation_p.L218V|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Missense_Mutation_p.L218V|MFGE8_ENST00000566497.1_Missense_Mutation_p.L218V			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	218	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TCAAAGCGCAGAGTGCAGGCC	0.602000													11	54					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211465417	211465417	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:211465417C>T	ENST00000233072.5	+	15	1884	c.1688C>T	c.(1687-1689)cCa>cTa	p.P563L	CPS1_ENST00000451903.2_Missense_Mutation_p.P112L|CPS1_ENST00000430249.2_Missense_Mutation_p.P569L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	563	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAGATTGCTCCAAGTTTTGCA	0.388000													33	91					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991292	39991292	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:39991292C>T	ENST00000332312.3	-	4	1109	c.917G>A	c.(916-918)cGa>cAa	p.R306Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	306						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GTGCAGCCGTCGGTCCACGTA	0.677000													9	13					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102605615	102605615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:102605615C>T	ENST00000334701.7	-	1	408	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	HSP90AA1_ENST00000558600.1_5'UTR	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	0					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GAGGAGGCTTCAGAGGGGCTT	0.607000													11	7					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7798328	7798328	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:7798328C>G	ENST00000303635.7	+	16	4175	c.3968C>G	c.(3967-3969)tCc>tGc	p.S1323C	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1323C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			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)		AAGTGGAATTCCAAAGATCTT	0.532000			T	WWTR1	epitheliod hemangioendothelioma								24	10					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38875731	38875731	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:38875731G>C	ENST00000359357.3	+	62	8951		c.e62-1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTCCTTAAAGATCTCCAACT	0.423000													20	8					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053290	17053290	+	Missense_Mutation	SNP	C	C	G	rs141376640		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:17053290C>G	ENST00000418129.2	+	2	2539	c.2074C>G	c.(2074-2076)Caa>Gaa	p.Q692E	PLCL2_ENST00000396755.2_Missense_Mutation_p.Q692E|PLCL2_ENST00000432376.1_Missense_Mutation_p.Q692E	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	818	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Q692K(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CTTTGAATTTCAAATCAACCT	0.443000													51	42					0	0	1	0	0
RNF2	6045	broad.mit.edu	37	1	185056770	185056770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:185056770C>T	ENST00000367510.3	+	2	373	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	RNF2_ENST00000367509.4_Nonsense_Mutation_p.Q29*	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	29	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		ACGAACACCTCAGGTAATGAC	0.368000													63	91					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94673270	94673270	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:94673270A>C	ENST00000258526.4	+	22	3869	c.3620A>C	c.(3619-3621)aAa>aCa	p.K1207T	RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.K254T	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1207					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTCTTTGAAAAAATCCCGGAA	0.393000													28	127					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149918879	149918879	+	Silent	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:149918879C>A	ENST00000261797.6	+	7	2029	c.1527C>A	c.(1525-1527)atC>atA	p.I509I	NDST1_ENST00000523767.1_Silent_p.I509I	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	509	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAAGATCATCAACGGGGGCG	0.612000													42	65					5.78141e-17	6.12304e-17	1	1	0
THEMIS2	9473	broad.mit.edu	37	1	28212398	28212398	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:28212398G>A	ENST00000373921.3	+	6	1901	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.E504K	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		ACATGATTATGAAGAAATACT	0.443000													16	32					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53223466	53223466	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:53223466G>C	ENST00000452825.3	-	21	4224	c.3692C>G	c.(3691-3693)tCt>tGt	p.S1231C	KDM5C_ENST00000375401.3_Missense_Mutation_p.S1298C|KDM5C_ENST00000375379.3_Missense_Mutation_p.S1298C|KDM5C_ENST00000404049.3_Missense_Mutation_p.S1297C|KDM5C_ENST00000375383.3_Missense_Mutation_p.S1257C	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1298					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CACATCTTCAGAGGCCAGAGC	0.652000			"""N, F, S"""		clear cell renal carcinoma								15	5					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111970160	111970160	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:111970160G>A	ENST00000361822.3	+	7	819	c.690G>A	c.(688-690)gaG>gaA	p.E230E	AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA|ZNF277_ENST00000450657.1_Silent_p.E230E	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	230						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TGTACTGTGAGAAGACCTTCA	0.328000													11	36					0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68568803	68568803	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:68568803G>A	ENST00000502604.1	+	9	1010	c.520G>A	c.(520-522)Gac>Aac	p.D174N	CDK7_ENST00000514676.1_Missense_Mutation_p.D230N|CDK7_ENST00000256443.3_Missense_Mutation_p.D267N|CDK7_ENST00000513629.1_3'UTR			P50613	CDK7_HUMAN	cyclin-dependent kinase 7	267	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		AGCAGGAGACGACTTACTAGA	0.358000								Nucleotide excision repair (NER)					40	49					0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62637763	62637763	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:62637763G>C	ENST00000337910.5	-	8	1966	c.1629C>G	c.(1627-1629)ctC>ctG	p.L543L	RHOBTB1_ENST00000357917.4_Silent_p.L543L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	543	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GCTTGGTATAGAGATAATCCA	0.423000													9	54					0	0	1	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036645	13036645	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:13036645C>T	ENST00000376187.1	+	2	717	c.717C>T	c.(715-717)ctC>ctT	p.L239L	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	239										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						TTCGCAAACTCTTCATCTCCG	0.483000													79	161					0	0	1	0	0
CD72	971	broad.mit.edu	37	9	35616039	35616039	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:35616039C>T	ENST00000396757.1	-	6	753	c.589G>A	c.(589-591)Gag>Aag	p.E197K	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.E197K			P21854	CD72_HUMAN	CD72 molecule	197					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCAAGGTCTCCTTCGTCTTC	0.587000													58	18					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58573755	58573755	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:58573755G>A	ENST00000317147.5	-	35	5241	c.4909C>T	c.(4909-4911)Cag>Tag	p.Q1637*	CNOT1_ENST00000245138.4_Nonsense_Mutation_p.Q488*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q1632*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1637					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CGAAGAGCCTGAGCTTGAGGG	0.448000													49	38					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53531211	53531211	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:53531211C>G	ENST00000288139.4	+	2	218	c.100C>G	c.(100-102)Ctt>Gtt	p.L34V	CACNA1D_ENST00000350061.5_Missense_Mutation_p.L34V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L34V	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAGACTTCCTCTTTCTGGTGA	0.463000													9	53					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143027909	143027909	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:143027909C>T	ENST00000343257.2	+	8	985	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	300			R -> Q.		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTTTGCTGTTCGGAACTACTG	0.557000													29	23					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41766416	41766416	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:41766416C>T	ENST00000373006.1	-	7	2143	c.1922G>A	c.(1921-1923)tGa>tAa	p.*641*	USP49_ENST00000373010.1_Intron|USP49_ENST00000373009.3_Intron|USP49_ENST00000297229.2_Silent_p.*641*|USP49_ENST00000394253.3_Intron	NM_018561.3	NP_061031.2	Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	0					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGGACAAATCAACCCCTTTC	0.443000													33	6					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90348604	90348604	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:90348604G>A	ENST00000300060.6	-	3	1018	c.705C>T	c.(703-705)atC>atT	p.I235I		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	235	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGATAAGCGTGATGTTGAACT	0.632000													18	20					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870908	140870908	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:140870908G>T	ENST00000252087.1	+	1	2101	c.2101G>T	c.(2101-2103)Gtc>Ttc	p.V701F	PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		701					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGCGACCGTCAGTCTCTT	0.567000													55	80					7.91745e-34	8.49144e-34	1	1	0
TRIM13	10206	broad.mit.edu	37	13	50586460	50586460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:50586460C>G	ENST00000378182.3	+	2	1122	c.384C>G	c.(382-384)ttC>ttG	p.F128L	TRIM13_ENST00000457662.2_Missense_Mutation_p.F128L|TRIM13_ENST00000420995.2_Missense_Mutation_p.F128L|TRIM13_ENST00000356017.4_Missense_Mutation_p.F131L|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.F131L	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	128					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AACATGTCTTCTGTTCTATTG	0.512000													19	54					0	0	1	0	0
BID	637	broad.mit.edu	37	22	18220990	18220990	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:18220990C>T	ENST00000317361.7	-	5	833	c.507G>A	c.(505-507)cgG>cgA	p.R169R	BID_ENST00000342111.5_3'UTR|BID_ENST00000399765.1_Silent_p.R27R|BID_ENST00000399774.3_Silent_p.R123R|BID_ENST00000551952.1_Silent_p.R123R|BID_ENST00000399767.1_Silent_p.R27R|BID_ENST00000473439.1_5'UTR	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	123					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GGTCCCTGTTCCGGTCCTGCA	0.552000													9	9					0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2909743	2909743	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:2909743G>C	ENST00000001008.4	+	8	1219	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	344	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GCTGTAACAAGGTGAGGCCCC	0.547000													22	13					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150556084	150556084	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:150556084G>A	ENST00000493429.1	+	5	2388	c.1804G>A	c.(1804-1806)Gac>Aac	p.D602N	AOC1_ENST00000416793.2_Missense_Mutation_p.D602N|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.D602N|AOC1_ENST00000360937.4_Missense_Mutation_p.D602N					amine oxidase, copper containing 1																		CTCCATGGCCGACCAGGTGCT	0.647000													5	4					0	0	1	0	0
ATF7	11016	broad.mit.edu	37	12	53931243	53931243	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:53931243C>G	ENST00000420353.2	-	5	507	c.358G>C	c.(358-360)Gat>Cat	p.D120H	RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.D120H|ATF7_ENST00000456903.4_Missense_Mutation_p.D120H|ATF7_ENST00000548446.2_Missense_Mutation_p.D131H|ATF7_ENST00000415113.1_Intron|ATF7_ENST00000328463.7_Missense_Mutation_p.D131H	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	131	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GCAGGGCTATCAGGTGGGGAT	0.468000													20	37					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742942	51742942	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:51742942G>A	ENST00000262262.4	+	7	1115	c.1094G>A	c.(1093-1095)tGa>tAa	p.*365*	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Silent_p.*238*	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	0					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGGACCCAGTGAGGAACCCAC	0.512000													40	28					0	0	1	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657358	100657358	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:100657358G>C	ENST00000416321.1	-	2	473	c.471C>G	c.(469-471)ctC>ctG	p.L157L		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	157	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GAAACCTGTAGAGACTAATGT	0.338000													21	40					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914980	119914980	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:119914980C>T	ENST00000331113.4	+	1	1259	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	98					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCCTGAATTTCTACCGCACTG	0.517000													56	116					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64484319	64484319	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:64484319G>A	ENST00000358025.3	+	34	5124	c.4894G>A	c.(4894-4896)Gag>Aag	p.E1632K	SYNE2_ENST00000554584.1_Missense_Mutation_p.E1632K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E1632K	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1632					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTAGATAAATGAGAAGACAGA	0.318000													36	66					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68910473	68910473	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:68910473C>G	ENST00000262340.5	-	4	392	c.339G>C	c.(337-339)aaG>aaC	p.K113N		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	113					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AAAATATATTCTTGCAGGGAT	0.408000													12	47					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651264	8651264	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:8651264C>T	ENST00000270328.4	-	20	2760	c.2494G>A	c.(2494-2496)Gcg>Acg	p.A832T	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.A319T|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.A832T			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	832	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTCCAGGGCGCATAGTGCCAG	0.692000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	7					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114225878	114225878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:114225878C>T	ENST00000307546.9	+	21	3763	c.3688C>T	c.(3688-3690)Caa>Taa	p.Q1230*	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1255					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCAGCCAGTCAACATTCAGA	0.423000													28	60					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59854747	59854747	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:59854747G>A	ENST00000256858.6	+	1	257	c.9G>A	c.(7-9)gcG>gcA	p.A3A	KIAA1468_ENST00000398130.2_Silent_p.A3A			Q9P260	K1468_HUMAN	KIAA1468	3							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGATGGCGGCGATGGCGCCTG	0.632000													51	47					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281203	25281203	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:25281203C>T	ENST00000218548.6	+	16	2563	c.2230C>T	c.(2230-2232)Ccg>Tcg	p.P744S	ATP12A_ENST00000381946.3_Missense_Mutation_p.P738S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	738					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TAATGACTCTCCGGCTCTAAA	0.567000													11	28					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828486	61828486	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:61828486C>T	ENST00000280772.2	-	37	12344	c.12153G>A	c.(12151-12153)acG>acA	p.T4051T	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAGCAGACTTCGTTGTAACCG	0.478000													24	79					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17976489	17976489	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:17976489C>T	ENST00000400573.5	+	3	217	c.210C>T	c.(208-210)ctC>ctT	p.L70L	CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000262608.8_Silent_p.L51L|CECR2_ENST00000342247.5_Silent_p.L50L|CECR2_ENST00000497534.1_3'UTR			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCTGGGAGCTCGAAGAAGGGA	0.522000													8	27					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	622696	622696	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:622696C>T	ENST00000588649.2	-	8	1596	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	504					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		TGCGCGCACTCAGCTCCCGGG	0.697000													3	6					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115466092	115466092	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:115466092G>A	ENST00000369522.3	+	21	1981	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E581K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	581					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATGTGAGAGAAGAGCTAAA	0.269000													18	5					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46931028	46931028	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:46931028C>G	ENST00000262738.3	-	1	2039	c.2040G>C	c.(2038-2040)gtG>gtC	p.V680V	CELSR1_ENST00000395964.1_Silent_p.V680V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	680	Cadherin 4.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGTTGTCATTCACGTCCAGCA	0.667000													4	14					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111449	55111449	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:55111449G>C	ENST00000314721.2	+	1	823	c.773G>C	c.(772-774)aGa>aCa	p.R258T		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATGTATGTTAGACCCGTTTCC	0.388000													26	19					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8926339	8926339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:8926339G>A	ENST00000256707.3	-	16	2117	c.1936C>T	c.(1936-1938)Cag>Tag	p.Q646*	KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.Q646*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.Q604*|KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.Q646*|KIDINS220_ENST00000319688.5_Nonsense_Mutation_p.Q647*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	646	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCCTACCCTGAGTATCTTCA	0.423000													34	91					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56504131	56504131	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:56504131C>A	ENST00000370754.5	-	21	2790	c.2791G>T	c.(2791-2793)Gaa>Taa	p.E931*	DST_ENST00000518935.1_Nonsense_Mutation_p.E427*|DST_ENST00000244364.6_Nonsense_Mutation_p.E427*|DST_ENST00000312431.6_Nonsense_Mutation_p.E753*|DST_ENST00000370788.2_Nonsense_Mutation_p.E753*|DST_ENST00000370769.4_Nonsense_Mutation_p.E753*|DST_ENST00000421834.2_Nonsense_Mutation_p.E753*|DST_ENST00000370765.6_Nonsense_Mutation_p.E427*|DST_ENST00000446842.2_Nonsense_Mutation_p.E427*|DST_ENST00000361203.3_Nonsense_Mutation_p.E753*			Q03001	DYST_HUMAN	dystonin	753	SH3.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTAATATTTTCTTCCTTTTGA	0.333000													11	28					3.86212e-05	3.92958e-05	1	1	0
FAM105A	54491	broad.mit.edu	37	5	14601545	14601545	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:14601545G>A	ENST00000274217.3	+	4	462	c.342G>A	c.(340-342)atG>atA	p.M114I		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	114										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					ACAAGCTGATGAGGAAGGTGT	0.418000													29	37					0	0	1	0	0
ATF7	11016	broad.mit.edu	37	12	53910934	53910934	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:53910934G>A	ENST00000420353.2	-	12	1588	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000456903.4_Missense_Mutation_p.S480F|ATF7_ENST00000548446.2_Missense_Mutation_p.S491F|RP11-793H13.3_ENST00000548347.1_RNA|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000415113.1_Missense_Mutation_p.S459F|ATF7_ENST00000328463.7_Missense_Mutation_p.S491F	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	491	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						TCTGCCCGCAGACTGGGACTG	0.577000													33	57					0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74717007	74717007	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:74717007G>A	ENST00000294064.4	+	3	1783	c.856G>A	c.(856-858)Gag>Aag	p.E286K	NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000544263.1_Missense_Mutation_p.E253K|NEU3_ENST00000545272.1_Missense_Mutation_p.E177K|NEU3_ENST00000531509.1_Missense_Mutation_p.E286K|NEU3_ENST00000529024.1_Intron	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	286										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GTGCCGGGCAGAGGCGCTCAG	0.582000													21	60					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31332492	31332492	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:31332492C>T	ENST00000542188.1	-	17	2509	c.2196G>A	c.(2194-2196)caG>caA	p.Q732Q	TRPM1_ENST00000256552.6_Silent_p.Q715Q|TRPM1_ENST00000397795.2_Silent_p.Q693Q|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	693					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			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)		TCATAGCGATCTGCTCGTCAT	0.542000													31	28					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726459	12726459	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:12726459C>T	ENST00000376221.1	+	4	937	c.937C>T	c.(937-939)Cta>Tta	p.L313L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	313						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		AGCTGCCTATCTAGAAGCCAA	0.493000													40	91					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	758421	758421	+	Missense_Mutation	SNP	C	C	T	rs112598403		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:758421C>T	ENST00000215582.6	+	2	1578	c.1475C>T	c.(1474-1476)cCg>cTg	p.P492L		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CGGGGATGCCCGCAAGCCAAC	0.632000													9	27					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335104	141335104	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:141335104C>T	ENST00000231484.3	-	1	3523	c.2313G>A	c.(2311-2313)caG>caA	p.Q771Q		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	771					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTGCCTTCTGAATGTGTT	0.592000													9	25					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110790917	110790917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:110790917G>T	ENST00000327908.3	+	4	1227	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	LRIT3_ENST00000409621.2_Nonsense_Mutation_p.E155*|LRIT3_ENST00000379920.3_Nonsense_Mutation_p.E293*|LRIT3_ENST00000594814.1_Nonsense_Mutation_p.E338*			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	293						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGGGATGTCAGAAGCTGTGGT	0.478000													42	99					5.44703e-19	5.79524e-19	1	1	0
FMN2	56776	broad.mit.edu	37	1	240370363	240370363	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:240370363G>A	ENST00000319653.9	+	5	2481	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	751					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			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)			CCCCACGGAAGAGGGCGGGGT	0.557000													17	21					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350613	89350613	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:89350613C>T	ENST00000301030.4	-	9	2797	c.2337G>A	c.(2335-2337)aaG>aaA	p.K779K	ANKRD11_ENST00000378330.2_Silent_p.K779K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	779	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTAAATCATTCTTCTTCTCTA	0.333000													31	43					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57437111	57437111	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:57437111C>G	ENST00000442789.2	-	12	1211	c.924G>C	c.(922-924)ttG>ttC	p.L308F	MYO1A_ENST00000544473.1_Missense_Mutation_p.L146F|MYO1A_ENST00000300119.3_Missense_Mutation_p.L308F	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	308	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTTCTGAATTCAAGCCCACCA	0.498000													80	50					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57436867	57436867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:57436867C>T	ENST00000442789.2	-	13	1374	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	MYO1A_ENST00000544473.1_Missense_Mutation_p.E201K|MYO1A_ENST00000300119.3_Missense_Mutation_p.E363K	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	363	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTGATGCTCTCATTGATTCGA	0.532000													52	27					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113537843	113537843	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:113537843C>G	ENST00000546530.1	-	22	2597	c.2312G>C	c.(2311-2313)aGa>aCa	p.R771T	RASAL1_ENST00000548055.1_Missense_Mutation_p.R770T|RASAL1_ENST00000446861.3_Missense_Mutation_p.R741T|RASAL1_ENST00000261729.5_Missense_Mutation_p.R769T	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	769					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGTTGCTGCTCTTTGCCGGGC	0.677000													4	12					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21512154	21512154	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:21512154G>A	ENST00000313654.9	+	66	8848	c.8607G>A	c.(8605-8607)ctG>ctA	p.L2869L	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.L1204L|LAMA3_ENST00000269217.6_Silent_p.L1260L|LAMA3_ENST00000399516.3_Silent_p.L2813L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2869	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCAGCTTCTGAGAAATAGCA	0.468000													70	57					0	0	1	0	0
CKMT1A	548596	broad.mit.edu	37	15	43990904	43990904	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:43990904C>T	ENST00000413453.2	+	8	1601	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Silent_p.D359D			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	359	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GAGGAGTGGACACTGCTGCCA	0.498000													4	82					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19452054	19452054	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:19452054C>G	ENST00000396229.2	+	3	1443	c.694C>G	c.(694-696)Cag>Gag	p.Q232E	TMC5_ENST00000381414.4_Missense_Mutation_p.Q232E|TMC5_ENST00000542583.2_Missense_Mutation_p.Q232E|TMC5_ENST00000541464.1_Missense_Mutation_p.Q232E	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	232						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGGACAATCAGAACTTGCC	0.493000													26	38					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48880470	48880470	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:48880470G>A	ENST00000314014.2	+	4	227		c.e4-1		C12orf54_ENST00000548364.1_Splice_Site|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54											endometrium(1)|large_intestine(4)	5						TATTTCTACAGGAAAAACAGG	0.438000													32	31					0	0	1	0	0
EXOSC2	23404	broad.mit.edu	37	9	133570941	133570941	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:133570941G>C	ENST00000372358.5	+	2	256	c.185G>C	c.(184-186)aGa>aCa	p.R62T	EXOSC2_ENST00000372351.3_Missense_Mutation_p.R62T|EXOSC2_ENST00000372352.3_Missense_Mutation_p.R62T|EXOSC2_ENST00000546165.1_Missense_Mutation_p.R62T			Q13868	EXOS2_HUMAN	exosome component 2	62					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		TCTGTGGAGAGAGTAAACAAG	0.458000													22	48					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1418254	1418254	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:1418254G>C	ENST00000345913.4	+	2	165	c.74G>C	c.(73-75)aGa>aCa	p.R25T	TPO_ENST00000382198.1_Missense_Mutation_p.R25T|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.R25T|TPO_ENST00000539820.1_Missense_Mutation_p.R25T|TPO_ENST00000382269.3_Missense_Mutation_p.R25T|TPO_ENST00000329066.4_Missense_Mutation_p.R25T|TPO_ENST00000346956.3_Missense_Mutation_p.R25T|TPO_ENST00000337415.3_Missense_Mutation_p.R25T|TPO_ENST00000349624.3_Missense_Mutation_p.R25T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	25					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCATCTCGAGAGGGAAAGAA	0.453000													3	19					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78988057	78988057	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:78988057C>G	ENST00000436010.2	-	2	1073	c.76G>C	c.(76-78)Gat>Cat	p.D26H	ROBO1_ENST00000467549.1_Missense_Mutation_p.D26H|ROBO1_ENST00000495273.1_Missense_Mutation_p.D26H|ROBO1_ENST00000464233.1_Missense_Mutation_p.D65H			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	65					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			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)		GGTGGAAAATCTTCCTGACGA	0.438000													21	49					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44580906	44580906	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:44580906G>A	ENST00000322927.2	-	20	3169	c.3069C>T	c.(3067-3069)atC>atT	p.I1023I	ZNF335_ENST00000426788.1_Silent_p.I868I	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1023					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCTCGGCACAGATCTTGCAGG	0.642000													10	13					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9546348	9546348	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:9546348G>C	ENST00000352665.5	+	14	1765	c.1696G>C	c.(1696-1698)Gac>Cac	p.D566H	WDR16_ENST00000299764.5_Missense_Mutation_p.D576H|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000396219.3_Missense_Mutation_p.D498H	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	566						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGTGGAAATGACCATCTGGT	0.438000													8	13					0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177109346	177109346	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:177109346G>A	ENST00000515234.1	-	4	1805	c.210C>T	c.(208-210)ctC>ctT	p.L70L	SPATA4_ENST00000280191.2_Silent_p.L243L			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	243				N -> D (in Ref. 2; AAH21731).	apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GAAGGTGATTGAGAGTAACTT	0.353000													13	46					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269908	53269908	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:53269908G>A	ENST00000338230.3	-	3	1368	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACTTGTGACTGAAGGTCTTGC	0.418000													122	97					0	0	1	0	0
TCP11L1	55346	broad.mit.edu	37	11	33090319	33090319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:33090319C>T	ENST00000334274.4	+	9	1641	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	TCP11L1_ENST00000432887.1_Missense_Mutation_p.S414F|TCP11L1_ENST00000324357.9_Missense_Mutation_p.S193F|TCP11L1_ENST00000531632.2_Missense_Mutation_p.S414F	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	414										kidney(1)|liver(2)|lung(2)|skin(1)	6						TGTGGGTCCTCTCCCTTCACC	0.617000													25	31					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149867760	149867760	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:149867760C>T	ENST00000445323.2	+	2	360	c.239C>T	c.(238-240)tCc>tTc	p.S80F	MTMR1_ENST00000544228.1_Missense_Mutation_p.S80F|MTMR1_ENST00000451863.2_Missense_Mutation_p.S80F|MTMR1_ENST00000542156.1_Missense_Mutation_p.S80F|MTMR1_ENST00000370390.3_Missense_Mutation_p.S80F|MTMR1_ENST00000541925.1_5'UTR			Q13613	MTMR1_HUMAN	myotubularin related protein 1	80						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAATGTGTCCAGAGATTAC	0.373000													48	6					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756543	32756543	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:32756543C>G	ENST00000249007.4	+	2	883	c.678C>G	c.(676-678)ctC>ctG	p.L226L	RFPL3_ENST00000397468.1_Silent_p.L197L|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Silent_p.L197L	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	226	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GAAGCCGCCTCTCTGCCAGCA	0.517000													34	37					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122205857	122205857	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:122205857G>C	ENST00000263710.4	-	18	2125	c.1736C>G	c.(1735-1737)tCt>tGt	p.S579C	CLASP1_ENST00000409078.3_Missense_Mutation_p.S579C|CLASP1_ENST00000455322.2_Missense_Mutation_p.S579C|CLASP1_ENST00000541859.1_Missense_Mutation_p.S348C|CLASP1_ENST00000397587.3_Missense_Mutation_p.S579C|CLASP1_ENST00000545861.1_Missense_Mutation_p.S347C|CLASP1_ENST00000541377.1_Missense_Mutation_p.S579C	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	579	Ser-rich.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTCACCTCTAGATGTGGTACT	0.493000													12	59					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123252	81123252	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:81123252G>C	ENST00000339711.4	+	10	1867	c.636G>C	c.(634-636)caG>caC	p.Q212H	PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H|PRDM8_ENST00000504452.1_Missense_Mutation_p.Q212H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	212	Gly-rich.|Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcaaagaccagcagcagcagc	0.652000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	45					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200633163	200633163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:200633163G>A	ENST00000447706.2	-	3	1007	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	DDX59_ENST00000331314.6_Nonsense_Mutation_p.Q286*|DDX59_ENST00000367348.3_Nonsense_Mutation_p.Q286*			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	286	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTCTCTATCTGAATGGCTAAC	0.438000													21	38					0	0	1	0	0
EIF6	3692	broad.mit.edu	37	20	33871998	33871998	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:33871998G>A	ENST00000374443.3	-	2	342	c.293C>T	c.(292-294)tCa>tTa	p.S98L	EIF6_ENST00000462894.1_5'UTR|EIF6_ENST00000374436.3_Silent_p.I58I|EIF6_ENST00000374450.3_Silent_p.I58I	NM_181466.2	NP_852131.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	103					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGCGCCCGATGATGCGGCAGC	0.642000													38	64					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104778557	104778557	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:104778557C>G	ENST00000406091.3	+	3	490	c.490C>G	c.(490-492)Caa>Gaa	p.Q164E		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	195	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCAACCTGATCAAAAGGTTCT	0.428000										HNSCC(12;0.0054)			28	29					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168096985	168096985	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:168096985C>G	ENST00000519560.1	-	35	4558	c.4139G>C	c.(4138-4140)gGa>gCa	p.G1380A	SLIT3_ENST00000404867.3_Missense_Mutation_p.G1380A|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1387A	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1380	EGF-like 8.				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			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)			CACACATTTTCCATGGTGGCA	0.567000													15	27					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16990542	16990542	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:16990542C>G	ENST00000377833.4	-	35	5209	c.5144G>C	c.(5143-5145)aGa>aCa	p.R1715T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1715	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAGACGAATCTCAGCGTCAG	0.507000													5	28					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10800308	10800308	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:10800308G>T	ENST00000361367.2	+	25	3604	c.3178G>T	c.(3178-3180)Gat>Tat	p.D1060Y		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	1060	Ser-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAGTGATTCCGATGAGAACCA	0.532000													4	12					0.00909568	0.00915462	1	1	0
NOX4	50507	broad.mit.edu	37	11	89224388	89224388	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:89224388G>A	ENST00000263317.4	-	1	265	c.27C>T	c.(25-27)ctC>ctT	p.L9L	NOX4_ENST00000535633.1_5'UTR|NOX4_ENST00000393282.2_Silent_p.L9L|NOX4_ENST00000534731.1_Silent_p.L9L|NOX4_ENST00000531342.1_Silent_p.L9L|NOX4_ENST00000375979.3_Silent_p.L9L|NOX4_ENST00000542487.1_Intron|NOX4_ENST00000525196.1_Silent_p.L9L|NOX4_ENST00000527956.1_Intron|NOX4_ENST00000532825.1_Intron|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000424319.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	9					cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTTCGTTGGCGAGCCAGCTCC	0.662000													8	6					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186296753	186296753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:186296753C>A	ENST00000367478.4	-	40	6024	c.5728G>T	c.(5728-5730)Gaa>Taa	p.E1910*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GAGGTTTCTTCACTGTCTTCC	0.378000			T	NTRK1	papillary thyroid								17	30					7.21436e-19	7.6668e-19	1	1	0
PANK1	53354	broad.mit.edu	37	10	91371549	91371549	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:91371549G>A	ENST00000307534.4	-	2	1115	c.960C>T	c.(958-960)ttC>ttT	p.F320F	PANK1_ENST00000342512.3_Silent_p.F95F|PANK1_ENST00000322191.6_Silent_p.F95F|PANK1_ENST00000371774.2_Silent_p.F122F	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	320					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	CCATCTGAATGAACCTGTGCA	0.532000													31	22					0	0	1	0	0
C4orf51	646603	broad.mit.edu	37	4	146650345	146650345	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:146650345G>A	ENST00000438731.1	+	4	391	c.391G>A	c.(391-393)Gat>Aat	p.D131N		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	131										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						GGATTTTGGTGATTGTTTTCC	0.318000													10	29					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11341183	11341183	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:11341183G>C	ENST00000315872.6	-	23	3258	c.2810C>G	c.(2809-2811)tCt>tGt	p.S937C	ROCK2_ENST00000401753.1_Missense_Mutation_p.S694C	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	937					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTCCAAATCAGAATATTGTTC	0.413000													54	33					0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41749396	41749396	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:41749396C>T	ENST00000226382.2	-	2	758	c.399G>A	c.(397-399)ctG>ctA	p.L133L		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	133					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GGTCGATCTTCAGGGCCAGCT	0.657000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				18	37					0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78915520	78915520	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:78915520C>T	ENST00000453514.1	+	2	742	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	PAPD4_ENST00000428308.2_Nonsense_Mutation_p.Q17*|PAPD4_ENST00000296783.3_Nonsense_Mutation_p.Q17*|PAPD4_ENST00000423041.2_Nonsense_Mutation_p.Q17*|PAPD4_ENST00000504233.1_Nonsense_Mutation_p.Q17*	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	17					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TCCAAATCATCAACAACATAA	0.393000													56	74					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119909871	119909871	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:119909871G>C	ENST00000327554.2	+	3	708	c.243G>C	c.(241-243)aaG>aaC	p.K81N	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	81										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAAAGAAAAAGAAGCAACAAC	0.438000													33	91					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930774	46930774	+	Missense_Mutation	SNP	G	G	A	rs137878225		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:46930774G>A	ENST00000262738.3	-	1	2293	c.2294C>T	c.(2293-2295)tCc>tTc	p.S765F	CELSR1_ENST00000395964.1_Missense_Mutation_p.S765F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	765	Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTGCCGTCGGATGCTGTCAC	0.597000													5	18					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350123	89350123	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:89350123C>G	ENST00000301030.4	-	9	3287	c.2827G>C	c.(2827-2829)Gag>Cag	p.E943Q	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E943Q	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	943	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTGCGGACTCTCTCCTCTTC	0.582000													67	47					0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202700453	202700453	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:202700453G>A	ENST00000450471.2	+	8	904	c.818G>A	c.(817-819)gGa>gAa	p.G273E	CDK15_ENST00000374598.4_Missense_Mutation_p.G273E|CDK15_ENST00000410091.3_Missense_Mutation_p.G222E|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Missense_Mutation_p.G273E|CDK15_ENST00000260967.2_Missense_Mutation_p.G222E	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	273	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GCTTTGCTGGGAGCCACTGAA	0.512000													14	25					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36789841	36789841	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:36789841G>A	ENST00000361475.2	-	2	344	c.171C>T	c.(169-171)ctC>ctT	p.L57L	TGM2_ENST00000536701.1_Silent_p.L57L|TGM2_ENST00000536724.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	57					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACTGAAGGTGAGACTGTCTA	0.637000													17	7					0	0	1	0	0
TMEM66	51669	broad.mit.edu	37	8	29927506	29927506	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:29927506C>G	ENST00000256255.6	-	3	609	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	118						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TCAGAGGACTCATAGCCTTCA	0.388000													42	155					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25638069	25638069	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:25638069G>C	ENST00000330688.4	+	8	1730	c.1309G>C	c.(1309-1311)Gaa>Caa	p.E437Q	RARB_ENST00000404969.1_Missense_Mutation_p.E444Q|RARB_ENST00000437042.2_Missense_Mutation_p.E325Q|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.E325Q	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	444					embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAGCTCAGTGGAAAACAGTGG	0.463000													27	30					0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220083371	220083371	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:220083371C>A	ENST00000265316.3	-	1	341	c.25G>T	c.(25-27)Gag>Tag	p.E9*	ABCB6_ENST00000439002.2_Nonsense_Mutation_p.E9*	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	9					cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCGGCCTCGCAGTAGTTG	0.692000													7	8					1.12685e-05	1.15156e-05	1	1	0
KCNH6	81033	broad.mit.edu	37	17	61613111	61613111	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:61613111G>A	ENST00000583023.1	+	6	1194	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	KCNH6_ENST00000314672.5_Missense_Mutation_p.E395K|KCNH6_ENST00000581784.1_Missense_Mutation_p.E395K|KCNH6_ENST00000456941.2_Missense_Mutation_p.E395K|KCNH6_ENST00000580652.1_Missense_Mutation_p.E395K	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	395					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCGCTACTCTGAGTATGGGGC	0.617000													33	40					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209796434	209796434	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:209796434G>A	ENST00000391911.1	-	16	2838	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	LAMB3_ENST00000367030.3_Missense_Mutation_p.R817C|LAMB3_ENST00000356082.4_Missense_Mutation_p.R817C	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	817	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCCCTGCAGCGGGAGCCACAG	0.642000													32	35					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81188259	81188259	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:81188259G>C	ENST00000456523.3	+	1	467	c.281G>C	c.(280-282)aGa>aCa	p.R94T	FGF5_ENST00000312465.7_Missense_Mutation_p.R94T	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	94					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CTCTACTGCAGAGTGGGCATC	0.572000													22	45					0	0	1	0	0
C14orf93	60686	broad.mit.edu	37	14	23467812	23467812	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:23467812C>T	ENST00000299088.6	-	2	850	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.V141M|C14orf93_ENST00000397382.4_Missense_Mutation_p.V141M|C14orf93_ENST00000397377.1_De_novo_Start_InFrame|C14orf93_ENST00000397379.3_Missense_Mutation_p.V141M|C14orf93_ENST00000406429.2_Missense_Mutation_p.V141M	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	141						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TCCTCTTCCACGGCAGACAGA	0.632000													8	22					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148917644	148917644	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:148917644G>A	ENST00000264613.6	-	8	1618	c.1356C>T	c.(1354-1356)gtC>gtT	p.V452V		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	452	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTGCCCAAATGACAGGACCTG	0.423000													44	29					0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9868477	9868477	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:9868477C>G	ENST00000397902.2	-	6	1689	c.1276G>C	c.(1276-1278)Gaa>Caa	p.E426Q	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTCCCACATTCTTTGCATTCA	0.413000													49	41					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:149857978G>C	ENST00000369155.2	-	1	254	c.213C>G	c.(211-213)ttC>ttG	p.F71L		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.F71L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622000													9	192					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814261	60814261	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:60814261G>A	ENST00000544856.2	-	7	1343	c.965C>T	c.(964-966)tCg>tTg	p.S322L	RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S323L|MARCH10_ENST00000583600.1_Missense_Mutation_p.S361L|MARCH10_ENST00000311269.5_Missense_Mutation_p.S323L|RP11-156L14.1_ENST00000582564.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	323							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTGAGGGGTCGATGTCCCCCC	0.448000													124	194					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141035204	141035204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:141035204G>C	ENST00000239440.4	-	31	4159	c.4094C>G	c.(4093-4095)tCt>tGt	p.S1365C	ARAP3_ENST00000508305.1_Missense_Mutation_p.S1196C|ARAP3_ENST00000513878.1_Missense_Mutation_p.S1027C|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1365					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			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						CTGATTGGCAGAGAGGAGGGT	0.587000													4	27					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349019	89349019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:89349019G>A	ENST00000301030.4	-	9	4391	c.3931C>T	c.(3931-3933)Cga>Tga	p.R1311*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.R1311*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1311	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCTGCCCTCGGTCCGTGAAG	0.567000													24	51					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27540167	27540167	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:27540167G>C	ENST00000544915.1	+	6	688	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	ARNTL2_ENST00000395901.2_Missense_Mutation_p.E154Q|ARNTL2_ENST00000261178.5_Missense_Mutation_p.E143Q|ARNTL2_ENST00000542388.1_Missense_Mutation_p.E106Q|ARNTL2_ENST00000266503.5_Missense_Mutation_p.E191Q|ARNTL2_ENST00000311001.5_Missense_Mutation_p.E177Q|ARNTL2_ENST00000546179.1_Missense_Mutation_p.E154Q	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	191	Helix-loop-helix motif.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E191*(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CTAGACTGCAGAAGGCTTCTT	0.328000													26	61					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433551	40433551	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:40433551C>T	ENST00000221347.6	-	2	725	c.718G>A	c.(718-720)Gag>Aag	p.E240K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	240	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGCAGCTGCTCAACCACATGG	0.592000													18	36					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90995001	90995001	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:90995001C>G	ENST00000265433.3	-	2	274	c.120G>C	c.(118-120)tcG>tcC	p.S40S	NBN_ENST00000409330.1_5'UTR	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	40	FHA.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCGGCTGATCGACTGATCAT	0.373000								Homologous recombination					57	68					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19645469	19645469	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:19645469C>T	ENST00000457500.2	-	4	866	c.537G>A	c.(535-537)gaG>gaA	p.E179E	ALDH3A1_ENST00000494157.2_Silent_p.E106E|ALDH3A1_ENST00000395555.3_Silent_p.E179E|ALDH3A1_ENST00000444455.1_Silent_p.E179E|ALDH3A1_ENST00000225740.6_Silent_p.E179E	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	179					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGTCGAACCTCTCCTTGAGCA	0.597000													28	19					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214813278	214813278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:214813278C>T	ENST00000366955.3	+	12	1765	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	533					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAATACCTCTCAGGAAACCAT	0.378000													97	134					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72666921	72666921	+	Silent	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:72666921G>T	ENST00000261180.4	+	1	459	c.363G>T	c.(361-363)tcG>tcT	p.S121S	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	121					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			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						GGACCACGTCGGCCCAGCCGC	0.731000													3	11					0.004672	0.00471245	1	1	0
COPS8	10920	broad.mit.edu	37	2	238006377	238006377	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:238006377G>C	ENST00000354371.2	+	8	1275	c.622G>C	c.(622-624)Gaa>Caa	p.E208Q	COPS8_ENST00000392008.2_Missense_Mutation_p.E159Q|COPS8_ENST00000409629.1_Missense_Mutation_p.E205Q|COPS8_ENST00000409334.1_Missense_Mutation_p.E172Q	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	208					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		GGCTTTCCTTGAAAACTGATT	0.383000													10	18					0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2908379	2908379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:2908379G>C	ENST00000001008.4	+	5	827	c.640G>C	c.(640-642)Gga>Cga	p.G214R	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	214	PPIase FKBP-type 2.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CATGGAGAAAGGAGAACATTC	0.527000													22	24					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910426	139910426	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:139910426C>G	ENST00000265662.5	-	22	3452	c.3305G>C	c.(3304-3306)aGa>aCa	p.R1102T	ABCA2_ENST00000341511.6_Missense_Mutation_p.R1102T|ABCA2_ENST00000371605.3_Missense_Mutation_p.R1101T			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1101	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTCCATCTCTCTGCGGATCTC	0.657000													12	16					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198953595	198953595	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:198953595C>T	ENST00000428675.1	+	3	3127	c.2729C>T	c.(2728-2730)tCt>tTt	p.S910F	PLCL1_ENST00000437704.2_Missense_Mutation_p.S812F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	910					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)	GCAATCGTGTCTATTAAGGAA	0.463000													94	295					0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748396	68748396	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:68748396C>G	ENST00000309106.3	-	1	59	c.60G>C	c.(58-60)ggG>ggC	p.G20G		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	20						integral to membrane|plasma membrane	G-protein coupled receptor activity			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)			GCACTGTGCTCCCTCTGGAAT	0.552000													22	47					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676134	123676134	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:123676134C>T	ENST00000309154.2	-	1	961	c.924G>A	c.(922-924)ttG>ttA	p.L308L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCCTTTGTATCAAGGTCATGA	0.388000													48	45					0	0	1	0	0
IGLV1-36	28826	broad.mit.edu	37	22	22786696	22786696	+	RNA	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:22786696C>T	ENST00000390301.2	+	0	286																											CTGACCGATTCTCTGGCTCCA	0.532000													47	124					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21175999	21175999	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:21175999G>C	ENST00000602326.1	-	27	4230	c.3647C>G	c.(3646-3648)tCa>tGa	p.S1216*	EIF4G3_ENST00000264211.8_Nonsense_Mutation_p.S1210*|EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.S930*|EIF4G3_ENST00000537738.1_Nonsense_Mutation_p.S700*|EIF4G3_ENST00000536266.1_Nonsense_Mutation_p.S814*|EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.S1216*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.S1210*	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1210					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTCATGAGCTGACATTGCTGA	0.323000													10	39					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163802	161163802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:161163802C>T	ENST00000367996.5	-	5	1899	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4		Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGTGTGCCATCGGCCCAGGGC	0.657000													28	31					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28770898	28770898	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:28770898G>A	ENST00000225719.4	+	11	2528	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	CPD_ENST00000543464.2_Missense_Mutation_p.E571K	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	818	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TAGTGTTGCTGAGATTAATCA	0.453000													68	92					0	0	1	0	0
SIX5	147912	broad.mit.edu	37	19	46271455	46271455	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:46271455G>C	ENST00000317578.6	-	1	1029	c.648C>G	c.(646-648)ctC>ctG	p.L216L	AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	216						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		AGCAGGCCTTGAGCGCTGCGC	0.647000													4	13					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930610	46930610	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:46930610C>G	ENST00000262738.3	-	1	2457	c.2458G>C	c.(2458-2460)Gag>Cag	p.E820Q	CELSR1_ENST00000395964.1_Missense_Mutation_p.E820Q	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	820	Cadherin 6.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGGGCATTCTCTCCTGTGTCC	0.567000													15	28					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128065099	128065099	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:128065099G>C	ENST00000470056.1	+	3	1183	c.1023G>C	c.(1021-1023)ctG>ctC	p.L341L	GAPVD1_ENST00000297933.6_Silent_p.L341L|GAPVD1_ENST00000495955.1_Silent_p.L341L|GAPVD1_ENST00000312123.9_Silent_p.L341L|GAPVD1_ENST00000394105.2_Silent_p.L341L|GAPVD1_ENST00000394084.1_Silent_p.L341L|GAPVD1_ENST00000394083.2_Silent_p.L341L|GAPVD1_ENST00000265956.4_Silent_p.L341L|GAPVD1_ENST00000394104.2_Silent_p.L341L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	341	Ras-GAP.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GATTTAATCTGATGCAGGTAT	0.378000													15	44					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179185	87179185	+	Silent	SNP	A	A	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:87179185A>G	ENST00000265724.3	-	14	1953	c.1536T>C	c.(1534-1536)ttT>ttC	p.F512F	ABCB1_ENST00000543898.1_Silent_p.F448F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	512	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTTTCATGATAAAGTCATAGG	0.428000													31	84					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12421364	12421364	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:12421364C>G	ENST00000397026.2	+	4	561	c.178C>G	c.(178-180)Cca>Gca	p.P60A	PPARG_ENST00000287820.6_Missense_Mutation_p.P82A|PPARG_ENST00000397012.2_Missense_Mutation_p.P54A|PPARG_ENST00000397000.1_Missense_Mutation_p.P54A|PPARG_ENST00000397015.2_Missense_Mutation_p.P54A|PPARG_ENST00000539812.1_Missense_Mutation_p.P52A|PPARG_ENST00000309576.6_Missense_Mutation_p.P54A|PPARG_ENST00000397010.2_Missense_Mutation_p.P54A			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	82					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CGAAGACATTCCATTCACAAG	0.408000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						23	75					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124748039	124748039	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:124748039G>A	ENST00000262219.6	-	2	161	c.94C>T	c.(94-96)Ctc>Ttc	p.L32F	ANXA13_ENST00000419625.1_Intron	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	0					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GGGTGGCTGAGAGGCTGCACG	0.527000													30	55					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16485048	16485048	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:16485048C>T	ENST00000354981.2	-	10	1302	c.1145G>A	c.(1144-1146)aGa>aAa	p.R382K	KIF16B_ENST00000355755.3_Missense_Mutation_p.R382K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.R382K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	382					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CGTTTTCAGTCTGGCTATTTC	0.403000													82	117					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2648539	2648539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:2648539G>A	ENST00000324666.5	+	5	769	c.418G>A	c.(418-420)Gac>Aac	p.D140N	FAM193A_ENST00000382839.3_Missense_Mutation_p.D140N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D140N|FAM193A_ENST00000505311.1_Missense_Mutation_p.D140N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D140N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	140										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GAAGAGGATCGACGCCTATGT	0.617000													4	72					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264390	61264390	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:61264390C>T	ENST00000344731.5	+	8	1071	c.969C>T	c.(967-969)tcC>tcT	p.S323S	SERPINB13_ENST00000269489.5_Silent_p.S271S	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	323					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CGTCAGGCTCCGGGTTGTACG	0.582000													15	34					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996233	19996233	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:19996233G>A	ENST00000391403.2	-	1	1645	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	514						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GTGAGAGTCTGAGAGGACCTT	0.522000													33	78					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121441139	121441139	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:121441139G>C	ENST00000393667.3	-	6	728	c.618C>G	c.(616-618)ctC>ctG	p.L206L	GOLGB1_ENST00000340645.5_Silent_p.L206L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	206					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTGTCTGGCTGAGCTGGGCTT	0.438000													33	100					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10825596	10825596	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:10825596G>C	ENST00000526148.1	-	8	1062	c.552C>G	c.(550-552)gtC>gtG	p.V184V	EIF4G2_ENST00000396525.2_Splice_Site_p.V184V|EIF4G2_ENST00000339995.5_Splice_Site_p.V184V|EIF4G2_ENST00000525681.1_Splice_Site_p.V184V	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	184	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCTTATCATAGACTGAAAAAG	0.383000													15	28					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16863215	16863215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:16863215G>C	ENST00000355661.3	-	9	761	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.Q251E|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.Q251E|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	251	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.Q251*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGCTCGGCCTGAGAGCCCGCT	0.582000													12	29					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109771742	109771742	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:109771742G>A	ENST00000368952.4	-	8	1299	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	MICAL1_ENST00000358577.3_Intron|MICAL1_ENST00000358807.3_Missense_Mutation_p.R318W			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	318					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCCAGCAGCCGATTGGTGTCT	0.612000													15	4					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130241761	130241761	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:130241761G>A	ENST00000323301.4	+	12	1484	c.880G>A	c.(880-882)Gag>Aag	p.E294K	LRSAM1_ENST00000373324.4_Missense_Mutation_p.E294K|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E294K|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E294K	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	294					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CCAGAAGGATGAGATCCTTCA	0.617000													10	22					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127278	55127278	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:55127278C>T	ENST00000257290.5	+	3	397	c.66C>T	c.(64-66)ctC>ctT	p.L22L	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Silent_p.L22L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	22					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GCCTAATCCTCTGCCAGCTTT	0.468000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			68	43					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104900587	104900587	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:104900587C>T	ENST00000533400.1	-	6	702	c.667G>A	c.(667-669)Gag>Aag	p.E223K	CASP1_ENST00000598974.1_Missense_Mutation_p.E223K|CASP1_ENST00000436863.3_Missense_Mutation_p.E223K|CASP1_ENST00000446369.1_Missense_Mutation_p.E130K|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.E202K|CASP1_ENST00000593315.1_Missense_Mutation_p.E202K|CASP1_ENST00000534497.1_Missense_Mutation_p.E130K|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000526568.1_Missense_Mutation_p.E130K|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.E186K|CASP1_ENST00000528974.1_Missense_Mutation_p.E184K|CASP1_ENST00000594519.1_Missense_Mutation_p.E130K|CASP1_ENST00000525825.1_Missense_Mutation_p.E202K	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	223					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GTCTTGTGCTCTGGGCGGTGT	0.458000													55	57					0	0	1	0	0
NXNL2	158046	broad.mit.edu	37	9	91150544	91150544	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:91150544C>A	ENST00000375855.3	+	1	525	c.195C>A	c.(193-195)ttC>ttA	p.F65L	NXNL2_ENST00000375854.3_Missense_Mutation_p.F65L|NXNL2_ENST00000487646.2_3'UTR	NM_145283.2	NP_660326.2	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	65	Thioredoxin.									lung(3)	3						CCGCGCCCTTCGAAGTGGTCT	0.711000													7	7					2.7689e-08	2.86416e-08	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57769086	57769086	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:57769086C>G	ENST00000371030.2	+	1	3012	c.3012C>G	c.(3010-3012)atC>atG	p.I1004M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1004						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGGACAGCATCCTGGAGGACC	0.647000													16	28					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107939585	107939585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:107939585C>T	ENST00000328300.6	+	53	5297	c.5053C>T	c.(5053-5055)Caa>Taa	p.Q1685*	COL4A5_ENST00000361603.2_Nonsense_Mutation_p.Q1679*	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1679	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TAGCCGATGTCAAGTGTGCAT	0.358000									Alport syndrome with Diffuse Leiomyomatosis				22	4					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25451244	25451244	+	RNA	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:25451244G>C	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						GGTGAGCCCAGAGGAAGACCC	0.637000													5	13					0	0	1	0	0
ABI2	10152	broad.mit.edu	37	2	204260431	204260431	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:204260431G>A	ENST00000295851.5	+	7	1074	c.778G>A	c.(778-780)Gag>Aag	p.E260K	ABI2_ENST00000422511.2_Missense_Mutation_p.E260K|ABI2_ENST00000261017.5_Missense_Mutation_p.E254K|ABI2_ENST00000261018.7_Missense_Mutation_p.E46K|ABI2_ENST00000430418.1_Missense_Mutation_p.E205K|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.E254K|ABI2_ENST00000261016.6_Missense_Mutation_p.E209K|RAPH1_ENST00000457812.1_Intron	NM_001282925.1|NM_001282926.1	NP_001269854.1|NP_001269855.1	Q9NYB9	ABI2_HUMAN	abl-interactor 2		Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CAGCAGTCGAGAGAACAGTGG	0.478000													28	92					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50273588	50273588	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:50273588G>C	ENST00000338821.5	-	14	1659	c.1395C>G	c.(1393-1395)ctC>ctG	p.L465L	ATP9A_ENST00000402822.1_Silent_p.L344L|ATP9A_ENST00000311637.5_Silent_p.L329L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	465					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGTTGTGGCAGAGCGCGATGG	0.617000													22	32					0	0	1	0	0
LPAR6	10161	broad.mit.edu	37	13	48985612	48985612	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:48985612G>T	ENST00000378434.4	-	7	2572	c.948C>A	c.(946-948)ttC>ttA	p.F316L	LPAR6_ENST00000345941.2_Missense_Mutation_p.F316L|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	316						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GAACTTCAGAGAATCTGAAGT	0.338000													37	33					6.70999e-13	7.0504e-13	1	1	0
TBCD	6904	broad.mit.edu	37	17	80858593	80858593	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:80858593C>T	ENST00000355528.4	+	18	1846	c.1716C>T	c.(1714-1716)atC>atT	p.I572I	TBCD_ENST00000397466.2_Silent_p.I186I|TBCD_ENST00000539345.2_Silent_p.I572I	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	572					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCATGAAGATCAGCCACTGGG	0.453000													36	47					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464540	247464540	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:247464540C>T	ENST00000294753.4	-	9	1509	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.E385K	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	349					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GTCACTTCTTCATCCAGGCTG	0.602000													31	44					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084415	248084415	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:248084415C>T	ENST00000319968.4	+	1	96	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTGAGTATCGTTTTGACCT	0.483000													34	41					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45644831	45644831	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:45644831G>A	ENST00000327619.5	+	5	684	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	EYA2_ENST00000317304.6_Missense_Mutation_p.E104K|EYA2_ENST00000357410.3_Missense_Mutation_p.E104K	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	104					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CATCAAGACAGAAGACAGCTT	0.512000													70	77					0	0	1	0	0
DPP7	29952	broad.mit.edu	37	9	140008715	140008715	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:140008715G>C	ENST00000371579.2	-	3	305	c.301C>G	c.(301-303)Cta>Gta	p.L101V		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	101						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AAGACCAGTAGAGCCCCCCGC	0.756000													7	6					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128046305	128046305	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:128046305G>C	ENST00000493187.2	-	7	1229	c.766C>G	c.(766-768)Cag>Gag	p.Q256E	ERCC3_ENST00000285398.2_Missense_Mutation_p.Q320E			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	320	Asp/Glu-rich (acidic).				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTCTTCTCCTGATAGGGTCTG	0.502000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				72	237					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140972630	140972630	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:140972630G>A	ENST00000277549.5	+	36	5165	c.2596G>A	c.(2596-2598)Gag>Aag	p.E866K	CACNA1B_ENST00000371365.2_Missense_Mutation_p.E36K|CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1672K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1670K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1671K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1673K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1672K			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1672					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCCTGTGATGAGCAGGCCAA	0.587000													21	20					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651872	96651872	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:96651872A>G	ENST00000302103.5	+	3	1167	c.841A>G	c.(841-843)Att>Gtt	p.I281V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	281					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGAGAATTATATTCCAGCAGA	0.388000													43	11					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39723607	39723607	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:39723607C>A	ENST00000246662.4	-	7	1855	c.1790G>T	c.(1789-1791)gGa>gTa	p.G597V	KRT9_ENST00000588431.1_Missense_Mutation_p.G364V	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	597	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				gtagctgcctccactttcacc	0.567000													10	17					0.000673444	0.000681487	1	1	0
TMEM131	23505	broad.mit.edu	37	2	98428913	98428913	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:98428913C>G	ENST00000186436.5	-	17	2062	c.1834G>C	c.(1834-1836)Gaa>Caa	p.E612Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	612						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGGATTTTTCAAACTCTGGC	0.348000													21	23					0	0	1	0	0
RND1	27289	broad.mit.edu	37	12	49251878	49251878	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:49251878G>A	ENST00000309739.5	-	5	730	c.600C>T	c.(598-600)gtC>gtT	p.V200V		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	200					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						AGAGGCTTCGGACAGGGCTCT	0.522000													43	35					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80380631	80380631	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:80380631C>G	ENST00000265361.3	-	16	2226	c.1665G>C	c.(1663-1665)gtG>gtC	p.V555V	SEMA3C_ENST00000419255.2_Silent_p.V555V|SEMA3C_ENST00000544525.1_Silent_p.V573V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	555					immune response|response to drug	membrane	receptor activity	p.V555V(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTCCATGTCTCACATCTTGTC	0.393000													12	52					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123482009	123482009	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:123482009C>T	ENST00000280562.5	-	10	1540	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K	PITPNM2_ENST00000320201.4_Silent_p.K445K|PITPNM2_ENST00000542749.1_Silent_p.K445K|PITPNM2_ENST00000392428.1_Silent_p.K166K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	445					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CATCGCCCTTCTTGGAGCTGG	0.682000													40	46					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922915	43922915	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:43922915C>T	ENST00000329196.5	+	1	660	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	215						integral to membrane	aspartic-type endopeptidase activity										CCGGCTACAGCGGCGCCGTGC	0.622000													12	70					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26639144	26639144	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:26639144C>T	ENST00000381340.3	-	41	6120	c.5704G>A	c.(5704-5706)Gag>Aag	p.E1902K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1902					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		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)					GATTTTTCCTCAGTGTTTCCC	0.433000													103	100					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138203978	138203978	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:138203978C>T	ENST00000343526.4	+	4	891	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	TRIM24_ENST00000415680.2_Missense_Mutation_p.H226Y|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	226					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTGTCCTTTTCATAAAAAGGA	0.408000													19	48					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59377970	59377970	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:59377970G>T	ENST00000263847.1	-	2	934	c.455C>A	c.(454-456)tCc>tAc	p.S152Y		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	152	PH.				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ACCCCCATTGGAAATGATGAA	0.532000													17	58					0.00498961	0.00502737	1	1	0
PNPO	55163	broad.mit.edu	37	17	46024055	46024055	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:46024055C>G	ENST00000225573.4	+	7	798	c.693C>G	c.(691-693)gtC>gtG	p.V231V	RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000534893.1_Silent_p.V136V|PNPO_ENST00000544840.1_Silent_p.V213V|PNPO_ENST00000434554.2_Silent_p.V188V	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	231					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	ACCGGATAGTCTTTCGGCGGG	0.572000											OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	62					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765639	61765639	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:61765639G>A	ENST00000423902.2	+	31	6834	c.6355G>A	c.(6355-6357)Gac>Aac	p.D2119N	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2119					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CATCCTCAATGACCCTGAGTT	0.502000													18	18					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351126	89351126	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:89351126C>G	ENST00000301030.4	-	9	2284	c.1824G>C	c.(1822-1824)aaG>aaC	p.K608N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K608N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	608						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGAAGGGGCTCTTCTTCTCCG	0.542000													26	23					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54637572	54637572	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:54637572G>C	ENST00000230640.5	+	7	1008	c.754G>C	c.(754-756)Gat>Cat	p.D252H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D151H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	252	Helicase ATP-binding.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GGTTATATTTGATGAAATTCA	0.299000													24	36					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34015931	34015931	+	Silent	SNP	C	C	T	rs141501015		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:34015931C>T	ENST00000373381.4	-	56	8939	c.8763G>A	c.(8761-8763)ccG>ccA	p.P2921P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2896	Sushi 21.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCGGGGAGCCCGGATGGCCAC	0.552000													12	29					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824927	74824927	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:74824927G>C	ENST00000256362.4	+	2	1682	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	481					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGAGGCGGAAGAGGGGGCAGG	0.662000													21	27					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186302239	186302239	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:186302239G>C	ENST00000439351.1	+	10	1802	c.873G>C	c.(871-873)aaG>aaC	p.K291N	DNAJB11_ENST00000265028.3_Missense_Mutation_p.K291N			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	291					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CCCGGGATAAGATCACCAGGC	0.468000													8	21					0	0	1	0	0
RNF4	6047	broad.mit.edu	37	4	2502458	2502458	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:2502458C>G	ENST00000511600.1	+	4	1712	c.197C>G	c.(196-198)tCt>tGt	p.S66C	RNF4_ENST00000506706.1_Missense_Mutation_p.S66C|RNF4_ENST00000509258.1_Missense_Mutation_p.S66C|RNF4_ENST00000541204.1_Missense_Mutation_p.S66C|RNF4_ENST00000314289.8_Missense_Mutation_p.S66C|RNF4_ENST00000511843.1_3'UTR|RNF4_ENST00000511859.1_Missense_Mutation_p.S66C			P78317	RNF4_HUMAN	ring finger protein 4	66					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				CACAATGACTCTGTTGTGGTA	0.473000													7	20					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64361012	64361012	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:64361012G>C	ENST00000377574.1	+	3	1389	c.642G>C	c.(640-642)atG>atC	p.M214I	SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000336464.7_Intron|SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000473690.1_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	214					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CAGGCGTCATGATGAACACGG	0.627000													23	18					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57969881	57969881	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:57969881G>A	ENST00000455537.2	+	18	2309	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E590K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	679					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AACTGTGCATGAAGTGGCCCT	0.517000													92	55					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160181452	160181452	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:160181452C>T	ENST00000392783.2	-	36	6718	c.6223G>A	c.(6223-6225)Gaa>Aaa	p.E2075K	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E2041K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1975K|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E2039K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2075					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTTTCCATTTCAGTCAGAATC	0.284000													24	20					0	0	1	0	0
TSR1	55720	broad.mit.edu	37	17	2239366	2239366	+	Missense_Mutation	SNP	G	G	A	rs144223722		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:2239366G>A	ENST00000301364.5	-	2	1245	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	TSR1_ENST00000576112.2_Missense_Mutation_p.R56C	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)						ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGGCTGGCGCGATGCCTCTGG	0.552000													24	42					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45715872	45715872	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:45715872G>C	ENST00000273317.4	+	7	1883	c.1862G>C	c.(1861-1863)aGa>aCa	p.R621T		NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	621	LIM zinc-binding 3.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		TCCATGGACAGAGACTACCAC	0.562000													11	12					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50824128	50824128	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:50824128G>A	ENST00000395562.2	+	2	499	c.30G>A	c.(28-30)ctG>ctA	p.L10L	CHAT_ENST00000460699.1_Intron|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000337653.2_Intron|CHAT_ENST00000395559.2_Intron|CHAT_ENST00000351556.3_Intron|CHAT_ENST00000339797.1_Intron	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	0					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			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)	ATGAAGCACTGAGCACAGTAG	0.502000													30	34					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752153	76752153	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:76752153G>C	ENST00000575389.2	+	2	162	c.162G>C	c.(160-162)gaG>gaC	p.E54D	SALL3_ENST00000572928.1_3'UTR|SALL3_ENST00000537592.2_Missense_Mutation_p.E54D|SALL3_ENST00000536229.3_5'UTR			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCGTGTGCGAGAAATGCTGCG	0.692000													5	5					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3247911	3247911	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:3247911T>C	ENST00000302303.1	-	16	2400	c.2089A>G	c.(2089-2091)Agg>Ggg	p.R697G	RFX3_ENST00000358730.2_Missense_Mutation_p.R697G|RFX3_ENST00000382004.3_Intron	NM_002919.2	NP_002910.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	0					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		cagtccctcctggctctgagg	0.358000													40	12					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10014058	10014058	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:10014058C>T	ENST00000256190.8	-	12	1337	c.1200G>A	c.(1198-1200)gaG>gaA	p.E400E		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	400	dDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGAAATCATTCTCGACCAAAC	0.378000													19	22					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38064163	38064163	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:38064163C>T	ENST00000250448.2	-	1	76	c.15G>A	c.(13-15)gtG>gtA	p.V5V	FOXA1_ENST00000540786.1_Intron	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	5					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTTCCATCTTCACAGTTCCTA	0.682000													8	8					0	0	1	0	0
ZNF785	146540	broad.mit.edu	37	16	30594499	30594499	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:30594499G>A	ENST00000395216.2	-	3	759	c.600C>T	c.(598-600)ttC>ttT	p.F200F	ZNF785_ENST00000470110.1_Silent_p.F185F|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						GGCCGCAGGAGAAGGGCCGCT	0.672000													13	20					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032768	30032768	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:30032768G>A	ENST00000328224.6	-	2	2691	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	486						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGACCCCAATGAAGAGGAAGA	0.527000													13	33					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19473459	19473459	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:19473459G>A	ENST00000375267.2	-	52	7668	c.7665C>T	c.(7663-7665)ctC>ctT	p.L2555L	UBR4_ENST00000375217.2_Silent_p.L2555L|UBR4_ENST00000375226.2_Silent_p.L2566L|UBR4_ENST00000375254.3_Silent_p.L2555L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2555					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAGATGTGTTGAGACACTGCA	0.517000													112	94					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95950857	95950857	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:95950857C>T	ENST00000317620.9	+	15	2002	c.1869C>T	c.(1867-1869)ctC>ctT	p.L623L	PROM2_ENST00000403131.2_Silent_p.L623L|PROM2_ENST00000542147.1_Intron|PROM2_ENST00000317668.4_Silent_p.L623L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	623						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCGACTTCCTCGTTCAGGTCA	0.647000													6	0					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7137543	7137543	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:7137543C>A	ENST00000005340.5	-	1	321	c.39G>T	c.(37-39)gaG>gaT	p.E13D	DVL2_ENST00000575458.1_Missense_Mutation_p.E13D	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	13	DIX.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCACCTTCGTCTCCCCAACCC	0.667000													26	59					1.1804e-14	1.24449e-14	1	1	0
CAPN1	823	broad.mit.edu	37	11	64950979	64950979	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:64950979C>T	ENST00000527323.1	+	3	612	c.372C>T	c.(370-372)ctC>ctT	p.L124L	CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000279247.6_Silent_p.L124L|CAPN1_ENST00000533820.1_Silent_p.L124L|CAPN1_ENST00000533129.1_Silent_p.L124L|CAPN1_ENST00000524773.1_Silent_p.L124L			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	124	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TCGCCTCCCTCACTCTCAACG	0.647000													9	34					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42472672	42472672	+	Missense_Mutation	SNP	C	C	A	rs113909364	byFrequency	TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:42472672C>A	ENST00000318522.5	+	2	315	c.53C>A	c.(52-54)tCt>tAt	p.S18Y	EML4_ENST00000402711.2_Missense_Mutation_p.S18Y|EML4_ENST00000401738.3_Missense_Mutation_p.S18Y|EML4_ENST00000482660.1_3'UTR	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	18					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCAAGTACTTCTGATGTTCAA	0.358000			T	ALK	NSCLC								13	26					7.93312e-07	8.17884e-07	1	1	0
ACSBG2	81616	broad.mit.edu	37	19	6141583	6141583	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:6141583G>C	ENST00000586696.1	+	2	305	c.29G>C	c.(28-30)gGa>gCa	p.G10A	ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000588304.1_5'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.G10A|ACSBG2_ENST00000591403.1_Missense_Mutation_p.G10A			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	10					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTCAAGAAGGAGCTAAAGAT	0.433000													19	22					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471266	4471266	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:4471266C>G	ENST00000325719.4	+	1	742	c.697C>G	c.(697-699)Cag>Gag	p.Q233E		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q233*(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTGCCTCTCAGGAGGCCCG	0.478000													96	98					0	0	1	0	0
ERLEC1	27248	broad.mit.edu	37	2	54040179	54040179	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:54040179C>G	ENST00000185150.4	+	11	1326	c.1195C>G	c.(1195-1197)Cat>Gat	p.H399D	ERLEC1_ENST00000405123.3_Missense_Mutation_p.H399D|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.H345D	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	399	PRKCSH 2.				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TAGAGCTTATCATCTTCAAGA	0.383000													25	23					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69652651	69652651	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:69652651C>T	ENST00000435070.2	+	6	1086	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.R363C|CPSF6_ENST00000456847.3_Missense_Mutation_p.R253C	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	326	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CTTTCCACCTCGTCCACCCGG	0.672000													19	63					0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25101122	25101122	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:25101122T>C	ENST00000216341.4	-	4	648	c.542A>G	c.(541-543)tAc>tGc	p.Y181C	GZMB_ENST00000382540.1_Missense_Mutation_p.Y136C|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000415355.3_Missense_Mutation_p.Y169C|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.Y215C|RP11-104E19.1_ENST00000555300.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	181	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GGTACTGTCGTAATAATGGCG	0.493000													5	89					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135278067	135278067	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:135278067G>C	ENST00000334270.2	-	2	181	c.142C>G	c.(142-144)Caa>Gaa	p.Q48E		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	48	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTAGTTATTTGAGACTGTTCA	0.373000													23	46					0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57457840	57457840	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:57457840C>T	ENST00000287169.3	+	6	1953	c.591C>T	c.(589-591)ttC>ttT	p.F197F	ZDHHC5_ENST00000527985.1_Silent_p.F144F	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	197						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCTTATTCTTCATCCCTGTAG	0.527000													66	182					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7888305	7888305	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:7888305C>G	ENST00000332175.8	+	3	1435	c.398C>G	c.(397-399)tCt>tGt	p.S133C	PTPRM_ENST00000400060.4_Missense_Mutation_p.S133C|PTPRM_ENST00000580170.1_Missense_Mutation_p.S133C|PTPRM_ENST00000400053.4_Missense_Mutation_p.S71C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	133	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGGAATATATCTGGAGACCCA	0.428000													18	67					0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172821902	172821902	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:172821902G>C	ENST00000264108.4	+	5	389	c.353G>C	c.(352-354)gGa>gCa	p.G118A	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.G33A	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	118					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ATTCCACCTGGATTTTGCACA	0.343000													6	31					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75861111	75861111	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:75861111C>T	ENST00000377636.3	-	21	4060	c.3714G>A	c.(3712-3714)ttG>ttA	p.L1238L	TBC1D4_ENST00000377625.2_Silent_p.L1175L|TBC1D4_ENST00000425511.1_Silent_p.L402L|TBC1D4_ENST00000431480.2_Silent_p.L1230L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1238						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCTCTCTCGTCAAAAGATTTT	0.438000													132	52					0	0	1	0	0
PEX10	5192	broad.mit.edu	37	1	2341873	2341873	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:2341873C>G	ENST00000288774.3	-	2	157	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	PEX10_ENST00000447513.2_Missense_Mutation_p.E44Q|PEX10_ENST00000507596.1_Missense_Mutation_p.E44Q	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	44					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TTCCTCCACTCCAGCCACTTC	0.592000													13	21					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46527674	46527674	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:46527674G>C	ENST00000262741.5	-	6	1380	c.691C>G	c.(691-693)Cac>Gac	p.H231D	PIK3R3_ENST00000540385.1_Missense_Mutation_p.H277D|PIK3R3_ENST00000354242.4_Missense_Mutation_p.H231D|PIK3R3_ENST00000420542.1_Missense_Mutation_p.H231D|PIK3R3_ENST00000423209.1_Missense_Mutation_p.H231D|PIK3R3_ENST00000372006.1_Missense_Mutation_p.H231D|PIK3R3_ENST00000340332.6_Missense_Mutation_p.H195D	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	231					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TCTTGTGTGTGACACTGCTCT	0.378000													39	82					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129040003	129040003	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:129040003C>G	ENST00000274487.4	+	21	3358	c.3213C>G	c.(3211-3213)gtC>gtG	p.V1071V	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1071	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGAAGTGTGTCCTCTCTACCA	0.453000													58	80					0	0	1	0	0
HNRNPC	3183	broad.mit.edu	37	14	21681214	21681214	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:21681214G>A	ENST00000430246.2	-	5	3379	c.428C>T	c.(427-429)tCg>tTg	p.S143L	HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000556513.1_Missense_Mutation_p.S156L|HNRNPC_ENST00000555914.1_Missense_Mutation_p.S143L|HNRNPC_ENST00000557201.1_Missense_Mutation_p.S156L|HNRNPC_ENST00000556142.1_Missense_Mutation_p.S156L|HNRNPC_ENST00000554455.1_Missense_Mutation_p.S156L|HNRNPC_ENST00000554969.1_Missense_Mutation_p.S143L|HNRNPC_ENST00000556897.1_Missense_Mutation_p.S143L|HNRNPC_ENST00000556628.1_Missense_Mutation_p.S76L|HNRNPC_ENST00000449098.1_Missense_Mutation_p.S143L|HNRNPC_ENST00000420743.2_Missense_Mutation_p.S156L|HNRNPC_ENST00000555309.1_Missense_Mutation_p.S156L|HNRNPC_ENST00000336053.6_Missense_Mutation_p.S143L|HNRNPC_ENST00000553753.1_Missense_Mutation_p.S143L|HNRNPC_ENST00000553300.1_Missense_Mutation_p.S143L|HNRNPC_ENST00000320084.7_Missense_Mutation_p.S156L			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	156						catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CTGACGTTTCGAGGGCACTAC	0.478000													51	31					0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049907	36049907	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:36049907G>A	ENST00000379919.4	-	1	925	c.369C>T	c.(367-369)ctC>ctT	p.L123L	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	123					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TGCGCGCCGAGAGGTAGCCGG	0.602000													5	26					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9101036	9101036	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:9101036C>G	ENST00000457346.2	-	3	351	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	SCUBE2_ENST00000309263.3_Missense_Mutation_p.E93Q|SCUBE2_ENST00000450649.2_Missense_Mutation_p.E93Q|SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000520467.1_Missense_Mutation_p.E93Q			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	93	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CCATTGAGCTCATTTCCACAT	0.413000													42	51					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7888248	7888248	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:7888248T>C	ENST00000332175.8	+	3	1378	c.341T>C	c.(340-342)cTc>cCc	p.L114P	PTPRM_ENST00000400060.4_Missense_Mutation_p.L114P|PTPRM_ENST00000580170.1_Missense_Mutation_p.L114P|PTPRM_ENST00000400053.4_Missense_Mutation_p.L52P	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	114	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCGGGGTTACTCAATGTCTAC	0.473000													17	61					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137767147	137767147	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:137767147G>A	ENST00000314358.5	+	23	5304	c.5104G>A	c.(5104-5106)Gaa>Aaa	p.E1702K	KDM3B_ENST00000394866.1_Missense_Mutation_p.E1358K|KDM3B_ENST00000542866.1_Missense_Mutation_p.E734K	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1702	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAAAGTAGCAGAAGACTTTGT	0.388000													33	69					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27024343	27024343	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:27024343C>T	ENST00000382009.3	+	13	2518	c.2251C>T	c.(2251-2253)Ctg>Ttg	p.L751L	STIM2_ENST00000465503.1_Silent_p.L664L|STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000467011.1_3'UTR|STIM2_ENST00000467087.1_Silent_p.L656L|STIM2_ENST00000237364.5_Silent_p.L743L	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	656					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CTGTGTAGGTCTGACAGAAAC	0.488000													54	41					0	0	1	0	0
THAP5	168451	broad.mit.edu	37	7	108205229	108205229	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:108205229C>T	ENST00000415914.3	-	3	747	c.594G>A	c.(592-594)gaG>gaA	p.E198E	THAP5_ENST00000313516.5_Silent_p.E156E|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	198					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AATTTAGATTCTCAAAACATG	0.338000													44	30					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27075611	27075611	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:27075611G>C	ENST00000261191.7	-	8	1363	c.827C>G	c.(826-828)tCt>tGt	p.S276C	ASUN_ENST00000539625.1_Missense_Mutation_p.S175C	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	276					cell division|mitosis|regulation of mitotic cell cycle		protein binding	p.S276Y(1)									ATAATTGGCAGATGTGTTAGC	0.284000													49	45					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115111050	115111050	+	Missense_Mutation	SNP	G	G	C	rs143999171		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:115111050G>C	ENST00000452722.3	-	2	235	c.215C>G	c.(214-216)tCt>tGt	p.S72C	CADM1_ENST00000542447.2_Missense_Mutation_p.S72C|CADM1_ENST00000536727.1_Missense_Mutation_p.S72C|CADM1_ENST00000331581.6_Missense_Mutation_p.S72C|CADM1_ENST00000537058.1_Missense_Mutation_p.S72C|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CTGAATCACAGAGTCGTCACT	0.433000													14	48					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41996207	41996207	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:41996207C>G	ENST00000301831.4	-	2	507	c.45G>C	c.(43-45)aaG>aaC	p.K15N	ULK4_ENST00000414606.1_Missense_Mutation_p.K15N|ULK4_ENST00000420927.1_Missense_Mutation_p.K15N	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	15	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGACAACAGTCTTGCTTCCTC	0.418000													25	52					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215822036	215822036	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:215822036C>T	ENST00000366943.2	-	66	14802	c.14416G>A	c.(14416-14418)Gag>Aag	p.E4806K	USH2A_ENST00000307340.3_Missense_Mutation_p.E4806K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4806	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCAGGCCTCTACTCCAATA	0.542000										HNSCC(13;0.011)			26	34					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50394679	50394679	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:50394679C>T	ENST00000595948.1	-	8	1305	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	IL4I1_ENST00000341114.3_Missense_Mutation_p.E229K|IL4I1_ENST00000391826.2_Missense_Mutation_p.E207K	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	207						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GTGTGCCTTTCAAACTTCTTC	0.567000													22	93					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87782414	87782414	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:87782414G>A	ENST00000270583.5	-	5	429	c.371C>T	c.(370-372)gCg>gTg	p.A124V	KLHDC4_ENST00000353170.5_Splice_Site_p.A67V|KLHDC4_ENST00000347925.5_Splice_Site_p.A124V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	124										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CACTACCACCGCCTGTGAAAA	0.572000													35	75					0	0	1	0	0
NANP	140838	broad.mit.edu	37	20	25597178	25597178	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:25597178C>G	ENST00000304788.3	-	2	356	c.130G>C	c.(130-132)Gag>Cag	p.E44Q		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	44				IKLLQSKYHYKEEAEIICDKVQVK -> TSPPMALLWAGSV RPAPSCTLTSP (in Ref. 1; BAB85055).	N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						ATTTCAGCCTCTTCTTTATAA	0.328000													23	36					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17992812	17992812	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:17992812G>A	ENST00000222248.3	+	9	1449	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	368					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGTCACTGTAGAAGACCTCAT	0.587000													19	27					0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53459652	53459652	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:53459652C>G	ENST00000301463.4	-	11	1379	c.1293G>C	c.(1291-1293)gaG>gaC	p.E431D	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E468D	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	431										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTTTGACTTTCTCCCCGCAGC	0.562000											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	44					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052573	15052573	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:15052573G>C	ENST00000248072.3	+	1	273	c.273G>C	c.(271-273)atG>atC	p.M91I		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					AAAGCAAAATGATCACTTTTG	0.458000													28	23					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67645045	67645045	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:67645045G>T	ENST00000264010.4	+	3	754	c.310G>T	c.(310-312)Gag>Tag	p.E104*	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	104					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGTAAATATGGAGGAACAGCC	0.463000													27	37					7.26314e-15	7.66619e-15	1	1	0
ZZZ3	26009	broad.mit.edu	37	1	78045290	78045290	+	Silent	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:78045290G>T	ENST00000370801.3	-	10	2479	c.2004C>A	c.(2002-2004)atC>atA	p.I668I	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Silent_p.I174I	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	668	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GAGGGTATTTGATGAGTAGCT	0.363000													29	75					3.80469e-20	4.05718e-20	1	1	0
USP32	84669	broad.mit.edu	37	17	58282946	58282946	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:58282946G>A	ENST00000300896.4	-	26	3305	c.3111C>T	c.(3109-3111)ttC>ttT	p.F1037F	USP32_ENST00000592339.1_Silent_p.F707F	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1037					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.F1037F(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CATTGGGGATGAATATTGGTC	0.428000													45	64					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44099185	44099185	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:44099185C>G	ENST00000272286.2	+	7	1125	c.1035C>G	c.(1033-1035)ctC>ctG	p.L345L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	345					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCAGTCACTCGCAGCCCTGT	0.532000													26	31					0	0	1	0	0
BID	637	broad.mit.edu	37	22	18220888	18220888	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:18220888C>G	ENST00000317361.7	-	5	935	c.609G>C	c.(607-609)aaG>aaC	p.K203N	BID_ENST00000342111.5_3'UTR|BID_ENST00000399765.1_Missense_Mutation_p.K61N|BID_ENST00000399774.3_Missense_Mutation_p.K157N|BID_ENST00000551952.1_Missense_Mutation_p.K157N|BID_ENST00000399767.1_Missense_Mutation_p.K61N|BID_ENST00000473439.1_5'UTR	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	157					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	p.K203_A206delKKVA(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TGGCCACCTTCTTGGCCAGCA	0.567000													28	24					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150485787	150485787	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:150485787G>C	ENST00000369047.4	+	10	1592	c.1467G>C	c.(1465-1467)ctG>ctC	p.L489L	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Silent_p.L516L|ECM1_ENST00000346569.6_Silent_p.L364L	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	489					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	p.L489L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTGTTACCTGAGTCCTGGGG	0.498000													71	90					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48444122	48444122	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:48444122G>A	ENST00000324324.7	-	12	1435	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	MYEF2_ENST00000267836.6_Silent_p.L386L	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	386	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			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)		ATTGCTTCCAGACCACCAAAC	0.408000													19	66					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			31	19					0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155161870	155161870	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:155161870G>T	ENST00000368395.1	-	2	334	c.263C>A	c.(262-264)tCa>tAa	p.S88*	MUC1_ENST00000368396.4_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368393.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	868						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCTGAACCTGAAGCTGGTTC	0.657000			T	IGH@	B-NHL								36	34					1.26612e-14	1.33336e-14	1	1	0
FARP2	9855	broad.mit.edu	37	2	242371181	242371181	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:242371181G>C	ENST00000264042.3	+	9	1029	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	FARP2_ENST00000373287.4_Missense_Mutation_p.E287Q|FARP2_ENST00000545004.1_Missense_Mutation_p.E287Q	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	287	FERM.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACTTCATCCAGAGGTTCATGT	0.323000													29	48					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	46					0	0	1	0	0
PROK1	84432	broad.mit.edu	37	1	110993871	110993871	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:110993871C>T	ENST00000271331.3	+	1	50	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	11					angiogenesis|positive regulation of cell division	extracellular region	growth factor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAATCATGCTCCTCCTAGTAA	0.542000													21	31					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4699881	4699881	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:4699881C>T	ENST00000354582.6	+	13	1420	c.1070C>T	c.(1069-1071)tCt>tTt	p.S357F	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.S357F|ITPR1_ENST00000456211.2_Missense_Mutation_p.S342F|ITPR1_ENST00000357086.4_Missense_Mutation_p.S357F|ITPR1_ENST00000302640.8_Missense_Mutation_p.S342F|ITPR1_ENST00000443694.2_Missense_Mutation_p.S342F			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	357	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCCCTGGTCTCTGTGCCTGAA	0.498000													18	33					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100017485	100017485	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:100017485C>G	ENST00000398027.2	-	4	297	c.50G>C	c.(49-51)aGa>aCa	p.R17T	ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.R17T	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	17							zinc ion binding	p.R17I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAAAGATTCTCTTTGGTCC	0.458000													19	56					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185270299	185270299	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:185270299C>T	ENST00000367498.3	-	10	1547	c.925G>A	c.(925-927)Gat>Aat	p.D309N	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.D91N|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	309	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AATATACCATCCAGCACAGCC	0.383000													10	39					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81164155	81164155	+	RNA	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:81164155G>A	ENST00000533478.1	-	0	4007				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCCCCTGGTGAAGCTGTGCT	0.597000													10	14					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150337364	150337364	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:150337364C>T	ENST00000401000.4	+	1	239	c.174C>T	c.(172-174)atC>atT	p.I58I	RPRD2_ENST00000539519.1_Silent_p.I58I|RPRD2_ENST00000369067.3_Silent_p.I58I|RPRD2_ENST00000492220.1_Intron|RPRD2_ENST00000369068.4_Silent_p.I58I			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	58	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACAGTACTATCGTCTATCATT	0.488000													31	31					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52882231	52882231	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:52882231C>T	ENST00000330722.6	-	7	1373	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	435	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTTGGCCTTCTGCAGGGCAT	0.627000													53	88					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192225356	192225356	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:192225356G>A	ENST00000392318.3	+	8	809		c.e8-1		MYO1B_ENST00000304164.4_Splice_Site|MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB							myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CTTCTCTTTAGATCTTTTAGA	0.388000													62	57					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32915310	32915310	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:32915310G>A	ENST00000544455.1	+	11	7045	c.6818G>A	c.(6817-6819)aGa>aAa	p.R2273K	BRCA2_ENST00000380152.3_Missense_Mutation_p.R2273K	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2273					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGAAAAAGAAGAGGAGAGCCC	0.368000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			24	76					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225609849	225609849	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:225609849G>A	ENST00000338179.2	-	3	421	c.296C>T	c.(295-297)tCt>tTt	p.S99F	LBR_ENST00000272163.4_Missense_Mutation_p.S99F	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	99	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GTGGGAAGCAGAAGCAGATCG	0.532000													43	47					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64118968	64118968	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:64118968G>A	ENST00000356786.5	+	18	3023	c.2979G>A	c.(2977-2979)gaG>gaA	p.E993E	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.E145E	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	993					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGTGGCAGAGAAGGCAGCTT	0.677000													4	4					0	0	1	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41113344	41113344	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:41113344C>T	ENST00000421990.2	-	8	1063	c.718G>A	c.(718-720)Gac>Aac	p.D240N	PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.D179N|AARSD1_ENST00000416949.1_5'UTR|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.D149N|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.D240N|AARSD1_ENST00000427569.2_Missense_Mutation_p.D66N	NM_001136042.2	NP_001129514.2												p.D179N(1)									ACAGAGATGTCATTGATTGTA	0.522000													53	60					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98218581	98218581	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:98218581C>G	ENST00000430669.2	-	19	3670	c.3085G>C	c.(3085-3087)Gag>Cag	p.E1029Q	PTCH1_ENST00000421141.1_Missense_Mutation_p.E944Q|PTCH1_ENST00000429896.2_Missense_Mutation_p.E944Q|PTCH1_ENST00000331920.6_Missense_Mutation_p.E1095Q|PTCH1_ENST00000375274.2_Missense_Mutation_p.E1094Q|PTCH1_ENST00000437951.1_Missense_Mutation_p.E1029Q|PTCH1_ENST00000418258.1_Missense_Mutation_p.E944Q			Q13635	PTC1_HUMAN	patched 1	1095					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACGGTGAACTCCACTCCTATG	0.507000													36	23					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45500280	45500280	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:45500280G>A	ENST00000415258.1	+	7	793	c.652G>A	c.(652-654)Gag>Aag	p.E218K	LARS2_ENST00000414984.1_Missense_Mutation_p.E175K|LARS2_ENST00000265537.3_Missense_Mutation_p.E218K			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	218					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GCTTGCCAATGAGCAGGTGGA	0.433000													36	27					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84872178	84872178	+	Missense_Mutation	SNP	C	C	G	rs141769268	by1000genomes	TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:84872178C>G	ENST00000262424.5	+	2	301	c.77C>G	c.(76-78)cCc>cGc	p.P26R	CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.P26R|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.P26R|CRISPLD2_ENST00000569090.1_Missense_Mutation_p.P26R	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	26						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TACCTCCTGCCCAACGTCACT	0.602000													11	48					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140903796	140903796	+	Splice_Site	SNP	T	T	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:140903796T>A	ENST00000253811.6	-	27	3718	c.3578A>T	c.(3577-3579)gAg>gTg	p.E1193V	DIAPH1_ENST00000398557.4_Splice_Site_p.E1192V|DIAPH1_ENST00000398562.2_Splice_Site_p.E1168V|DIAPH1_ENST00000389057.5_Splice_Site_p.E1183V|DIAPH1_ENST00000389054.3_Splice_Site_p.E1189V|DIAPH1_ENST00000520569.1_Splice_Site_p.E1135V|DIAPH1_ENST00000518047.1_Splice_Site_p.E1180V|DIAPH1_ENST00000398566.3_Splice_Site_p.E1184V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1192					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCATCGCCCTCTGTTATAAA	0.498000													24	35					0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19713749	19713749	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:19713749C>T	ENST00000395544.4	-	14	1598	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_Missense_Mutation_p.D367N	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	367					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ACTGGCATATCACCTAAAGGA	0.343000													32	99					0	0	1	0	0
MFRP	83552	broad.mit.edu	37	11	119217081	119217081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:119217081C>A	ENST00000555262.1	-	2	217	c.58G>T	c.(58-60)Gag>Tag	p.E20*	MFRP_ENST00000360167.4_Nonsense_Mutation_p.E20*|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000529147.1_Intron|MFRP_ENST00000449574.2_Nonsense_Mutation_p.E20*|MFRP_ENST00000530681.1_Nonsense_Mutation_p.E20*	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		TTGCAGAACTCGGTCTGGAAG	0.597000													17	11					3.52763e-06	3.62887e-06	1	1	0
ABAT	18	broad.mit.edu	37	16	8862795	8862795	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:8862795G>C	ENST00000396600.2	+	11	1719	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	ABAT_ENST00000425191.2_Missense_Mutation_p.E261Q|ABAT_ENST00000567812.1_Missense_Mutation_p.E276Q|ABAT_ENST00000268251.8_Missense_Mutation_p.E261Q|ABAT_ENST00000569156.1_Missense_Mutation_p.E261Q	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	261					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GTTTGTGAAAGAGAACCAACA	0.552000													51	65					0	0	1	0	0
TALDO1	6888	broad.mit.edu	37	11	760226	760226	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:760226C>T	ENST00000319006.3	+	4	587	c.434C>T	c.(433-435)tCa>tTa	p.S145L	TALDO1_ENST00000528097.1_Missense_Mutation_p.S145L			P37837	TALDO_HUMAN	transaldolase 1	145					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		AAGCTGTCATCAACCTGGGAA	0.507000													29	29					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44112771	44112771	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:44112771C>T	ENST00000262726.7	-	9	1092	c.839G>A	c.(838-840)aGa>aAa	p.R280K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R128K|EFCAB6_ENST00000358439.4_Missense_Mutation_p.R174K|EFCAB6_ENST00000356087.4_Missense_Mutation_p.R174K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGAGTAGTTTCTCCAGATATC	0.378000													15	43					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180486653	180486653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:180486653G>A	ENST00000327705.9	+	11	1630	c.1399G>A	c.(1399-1401)Gac>Aac	p.D467N	BTNL9_ENST00000376842.3_Missense_Mutation_p.D468N	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	467	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAACGTGTCCGACGGCTCCCA	0.697000													27	25					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106500216	106500216	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:106500216G>C	ENST00000261402.2	-	2	1707	c.328C>G	c.(328-330)Ctc>Gtc	p.L110V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	110	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGATGGTTGAGAGATGACATG	0.373000													18	42					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79357216	79357216	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:79357216G>T	ENST00000370742.3	-	14	2066	c.2003C>A	c.(2002-2004)tCt>tAt	p.S668Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	668					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TACCTTTCTAGATAAAACACA	0.358000													9	27					1.76689e-08	1.83175e-08	1	1	0
IRAK3	11213	broad.mit.edu	37	12	66597517	66597517	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:66597517G>A	ENST00000261233.4	+	2	581	c.160G>A	c.(160-162)Gat>Aat	p.D54N	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	54	Death.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CAGCTGGCTGGATGTTCGTCA	0.363000													56	35					0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	96924	96924	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:96924G>C	ENST00000323434.8	-	6	1101	c.504C>G	c.(502-504)atC>atG	p.I168M	RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000331302.7_Missense_Mutation_p.I197M|RPH3AL_ENST00000536489.2_Missense_Mutation_p.I168M	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	197					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CCCACGTGTAGATGCGGCTGG	0.617000													48	27					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114186049	114186049	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:114186049G>C	ENST00000393081.1	+	19	2078	c.1771G>C	c.(1771-1773)Gat>Cat	p.D591H	ACSL5_ENST00000433418.1_Missense_Mutation_p.D591H|ACSL5_ENST00000354273.4_Missense_Mutation_p.D591H|ACSL5_ENST00000369410.3_Missense_Mutation_p.D373H|ACSL5_ENST00000356116.1_Missense_Mutation_p.D647H|ACSL5_ENST00000354655.4_Missense_Mutation_p.D591H	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	591					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TCCTGACACAGATGTACTTCC	0.468000													31	33					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825102	74825102	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:74825102C>T	ENST00000256362.4	+	2	1857	c.1616C>T	c.(1615-1617)tCt>tTt	p.S539F		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	539					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGTCACCTTCTGCCTTTTGG	0.657000													48	42					0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77472971	77472971	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:77472971G>C	ENST00000299543.7	+	7	1010		c.e7-1		CTDP1_ENST00000075430.7_Splice_Site	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1						positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TTCACTTGTAGAAATCTCTTT	0.338000													53	38					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73520223	73520223	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:73520223G>A	ENST00000418310.1	+	6	819	c.717G>A	c.(715-717)atG>atA	p.M239I	LIMK1_ENST00000538333.3_Missense_Mutation_p.M175I|LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000336180.2_Missense_Mutation_p.M209I			P53667	LIMK1_HUMAN	LIM domain kinase 1	209	PDZ.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CGGGCTGCATGAGCCCAGATG	0.597000													8	10					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19316746	19316746	+	Silent	SNP	T	T	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:19316746T>A	ENST00000380432.2	+	8	1041	c.1008T>A	c.(1006-1008)tcT>tcA	p.S336S	DENND4C_ENST00000602925.1_Silent_p.S572S|DENND4C_ENST00000434457.2_Silent_p.S572S			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	336	dDENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTATGGCGTCTATTTTAAAAG	0.418000													5	98					0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95084081	95084081	+	Missense_Mutation	SNP	A	A	G	rs141752089	byFrequency	TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:95084081A>G	ENST00000379982.3	+	4	968	c.460A>G	c.(460-462)Agc>Ggc	p.S154G		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	154	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AGACAGAGGGAGCTGTGTTAG	0.383000													28	52					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58604761	58604761	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:58604761G>C	ENST00000267485.7	-	2	1510	c.1316C>G	c.(1315-1317)tCt>tGt	p.S439C	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	439						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TACAGAGACAGAAACAGTGGT	0.383000													36	40					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200633201	200633201	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:200633201G>A	ENST00000447706.2	-	3	969	c.818C>T	c.(817-819)tCt>tTt	p.S273F	DDX59_ENST00000331314.6_Missense_Mutation_p.S273F|DDX59_ENST00000367348.3_Missense_Mutation_p.S273F			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	273	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AATGAGCGCAGATGGAGTTTT	0.403000													24	33					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30914523	30914523	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:30914523C>G	ENST00000597505.1	-	34	4914	c.4915G>C	c.(4915-4917)Gaa>Caa	p.E1639Q	DCDC1_ENST00000406071.2_Missense_Mutation_p.E377Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GATTCCATTTCTTGGATTTCA	0.393000													15	34					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15872926	15872926	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr21:15872926T>C	ENST00000285670.2	-	7	1070	c.896A>G	c.(895-897)aAa>aGa	p.K299R	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.K63R|SAMSN1_ENST00000400566.1_Missense_Mutation_p.K231R	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	231	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGCCTTTATTTTCTTGGGGGC	0.428000													34	71					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113539234	113539234	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:113539234T>C	ENST00000505019.1	-	6	2089	c.1964A>G	c.(1963-1965)tAc>tGc	p.Y655C	C4orf21_ENST00000445203.2_Missense_Mutation_p.Y624C|C4orf21_ENST00000309071.5_Missense_Mutation_p.Y655C	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	655								p.Y655F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTATCTCCGTATACAGCATC	0.318000													17	91					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	644422	644422	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:644422G>C	ENST00000264935.5	+	10	1638	c.1548G>C	c.(1546-1548)ttG>ttC	p.L516F	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	516					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGGATGATTTGAGACAACATT	0.388000													60	106					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47075134	47075134	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:47075134C>T	ENST00000290341.3	+	1	361	c.27C>T	c.(25-27)ctC>ctT	p.L9L	IGF2BP1_ENST00000431824.2_Silent_p.L9L|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	9	RRM 1.				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.L9L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCGGCAACCTCAACGAGAGCG	0.642000													21	37					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1986587	1986587	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:1986587G>A	ENST00000255608.4	-	9	1494	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	493						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGGCGCCCGTGGTGGGCGA	0.607000													18	31					0	0	1	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75898239	75898239	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:75898239G>A	ENST00000262207.4	+	2	485	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	6						extracellular region		p.R6Q(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGTACCGCGCGGGAGTGGCTC	0.463000													16	172					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93055752	93055752	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:93055752C>T	ENST00000359558.2	-	16	1742	c.1443G>A	c.(1441-1443)ctG>ctA	p.L481L	CALCR_ENST00000360249.4_Silent_p.L463L|CALCR_ENST00000421592.1_Silent_p.L463L|CALCR_ENST00000426151.1_Silent_p.L447L|CALCR_ENST00000394441.1_Silent_p.L447L	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	463					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GTTCATTCCTCAGCTCCTGAT	0.557000													75	78					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168187890	168187890	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:168187890C>G	ENST00000519560.1	-	16	2081	c.1662G>C	c.(1660-1662)aaG>aaC	p.K554N	SLIT3_ENST00000404867.3_Missense_Mutation_p.K554N|SLIT3_ENST00000332966.8_Missense_Mutation_p.K554N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	554					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			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)			TGGGCAACTTCTTGAAGATGC	0.517000													25	41					0	0	1	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937938	15937938	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:15937938G>C	ENST00000382333.1	-	3	612	c.318C>G	c.(316-318)ctC>ctG	p.L106L	FGFBP1_ENST00000259988.2_Silent_p.L106L	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	106					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TCTCATCCTTGAGCTTTAGGC	0.473000													46	38					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21619974	21619974	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:21619974C>T	ENST00000382592.4	-	2	597	c.192G>A	c.(190-192)atG>atA	p.M64I	LATS2_ENST00000542899.1_Missense_Mutation_p.M64I	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	64					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGGTGGCTCTCATCTGCTGCT	0.537000													13	34					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745773	37745773	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:37745773C>G	ENST00000539465.1	+	16	4337	c.3744C>G	c.(3742-3744)gtC>gtG	p.V1248V	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.V1248V			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1248						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGAGTGGGTCTGTTTTAATC	0.512000													34	8					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121151827	121151827	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:121151827A>C	ENST00000264233.5	-	29	7725	c.7597T>G	c.(7597-7599)Ttc>Gtc	p.F2533V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2533					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGGATGAAGAAGCCTCCTCTG	0.423000								DNA polymerases (catalytic subunits)					6	26					0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745143	23745143	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:23745143C>G	ENST00000357460.5	-	2	1458	c.1294G>C	c.(1294-1296)Gac>Cac	p.D432H	HOMEZ_ENST00000431326.2_Missense_Mutation_p.D434H|HOMEZ_ENST00000561013.1_Missense_Mutation_p.D434H	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	432	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATTGCTGGGTCTTGGAAACTA	0.542000													14	8					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23406133	23406133	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:23406133G>A	ENST00000216036.4	-	5	796	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	200							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GGTTGGCGCTGAGGAGCTTCT	0.612000													14	20					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124748037	124748037	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:124748037G>A	ENST00000262219.6	-	2	163	c.96C>T	c.(94-96)ctC>ctT	p.L32L	ANXA13_ENST00000419625.1_Intron	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	0					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGGGTGGCTGAGAGGCTGCA	0.532000													29	55					0	0	1	0	0
FEM1C	56929	broad.mit.edu	37	5	114860288	114860288	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:114860288C>G	ENST00000274457.3	-	3	2132	c.1571G>C	c.(1570-1572)aGa>aCa	p.R524T		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	524						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		ATCCGAGTCTCTGACGTTCAC	0.428000													35	121					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100402	3100402	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:3100402C>T	ENST00000336577.4	+	4	753	c.516C>T	c.(514-516)atC>atT	p.I172I	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	172					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						ACATCCTCATCGACTTTGCCC	0.647000													25	18					0	0	1	0	0
MTF2	22823	broad.mit.edu	37	1	93575839	93575839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:93575839C>T	ENST00000370298.4	+	2	347	c.58C>T	c.(58-60)Cga>Tga	p.R20*	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Intron|MTF2_ENST00000370303.4_Nonsense_Mutation_p.R20*|MTF2_ENST00000545708.1_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	20						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TCCTTTACGTCGAAACCAAAA	0.433000													13	51					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16594041	16594041	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:16594041G>C	ENST00000443444.2	+	1	467	c.327G>C	c.(325-327)aaG>aaC	p.K109N	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Missense_Mutation_p.K109N|CCDC144A_ENST00000360524.8_Missense_Mutation_p.K109N|CCDC144A_ENST00000340621.5_Missense_Mutation_p.K109N|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.K109N|CCDC144A_ENST00000399273.1_Missense_Mutation_p.K109N			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	109																	GCGTGGACAAGAGGGATAGGA	0.652000													78	81					0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140012199	140012199	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:140012199C>G	ENST00000302014.6	-	2	999	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	CD14_ENST00000401743.2_Missense_Mutation_p.E124Q	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	124					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	p.E124Q(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAGGTCCTCGAGCGTCAGT	0.632000													32	41					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42174242	42174242	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:42174242G>C	ENST00000520810.1	+	11	1131	c.945G>C	c.(943-945)ttG>ttC	p.L315F	IKBKB_ENST00000379708.3_Missense_Mutation_p.L92F|IKBKB_ENST00000520835.1_Missense_Mutation_p.L313F|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.L256F	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	315					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TTCATATCTTGAACATGGTCA	0.512000													14	19					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113674600	113674600	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:113674600C>G	ENST00000003302.4	-	22	2727		c.e22-1		USP28_ENST00000544967.1_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000260188.5_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						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			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)		CATGCCACTTCTGAAAAAGAA	0.313000													18	33					0	0	1	0	0
MIR3654	100500804	broad.mit.edu	37	11	62346211	62346211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:62346211C>T	ENST00000496634.2	-	5	1027	c.982G>A	c.(982-984)Gag>Aag	p.E328K	TUT1_ENST00000308436.7_Missense_Mutation_p.E366K|TUT1_ENST00000476907.1_Missense_Mutation_p.E328K																NS(1)	1						TTTGGGGTCTCTGCTAGTTCC	0.612000													20	28					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049697	9049697	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:9049697G>A	ENST00000397910.4	-	5	32137	c.31934C>T	c.(31933-31935)tCa>tTa	p.S10645L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10647	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCACTAGGTGAGATATTTGT	0.468000													29	29					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74077787	74077787	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:74077787G>C	ENST00000389156.4	-	13	1601	c.1511C>G	c.(1510-1512)tCt>tGt	p.S504C	FAM169A_ENST00000510496.1_Missense_Mutation_p.S444C|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	504										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CTTTTCATCAGATGTGCCTTC	0.378000													36	61					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093132	69093132	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:69093132C>T	ENST00000295379.1	-	2	1064	c.906G>A	c.(904-906)atG>atA	p.M302I		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	302					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TGTTTGATCTCATCTGCAACA	0.478000													20	17					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134994489	134994489	+	Missense_Mutation	SNP	G	G	C	rs146979495		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:134994489G>C	ENST00000535938.1	+	19	2698	c.2531G>C	c.(2530-2532)aGa>aCa	p.R844T	SAGE1_ENST00000324447.3_Missense_Mutation_p.R844T|SAGE1_ENST00000537770.1_Missense_Mutation_p.R468T|SAGE1_ENST00000370709.3_Missense_Mutation_p.R844T	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	844										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)					GATTATGAAAGAATTTTCATT	0.303000													22	59					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60849093	60849093	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:60849093G>A	ENST00000261523.5	-	3	342	c.254C>T	c.(253-255)tCa>tTa	p.S85L	RORA_ENST00000449337.2_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_Intron|RORA_ENST00000335670.6_Intron|RORA_ENST00000309157.4_Intron	NM_134260.2	NP_599022.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	85	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTCCTTTTGTGAATATGGTGG	0.393000													44	45					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129734741	129734741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:129734741C>T	ENST00000446488.3	-	26	3882	c.3779G>A	c.(3778-3780)cGc>cAc	p.R1260H	NFRKB_ENST00000304521.5_Missense_Mutation_p.R1260H|NFRKB_ENST00000524794.1_Missense_Mutation_p.R1285H|NFRKB_ENST00000524746.1_Missense_Mutation_p.R1260H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1260	Gln-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AGTCTGGATGCGCACCTGTTT	0.527000													30	26					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698750	187698750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:187698750C>A	ENST00000295131.2	-	6	790	c.751G>T	c.(751-753)Gaa>Taa	p.E251*		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	251					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCTATGCATTCGGTACACCTA	0.363000													23	14					1.96895e-08	2.03895e-08	1	1	0
CLLU1	574028	broad.mit.edu	37	12	92818616	92818616	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:92818616C>G	ENST00000378485.1	+	1	882	c.160C>G	c.(160-162)Caa>Gaa	p.Q54E	CLLU1_ENST00000472839.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1OS_ENST00000378487.2_Intron|CLLU1OS_ENST00000538965.1_Intron	NM_001025233.1	NP_001020404.1			chronic lymphocytic leukemia up-regulated 1											NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TTTATTTTCTCAAAACAACAG	0.294000													10	63					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63328394	63328394	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:63328394G>A	ENST00000228705.6	-	1	423	c.123C>T	c.(121-123)taC>taT	p.Y41Y		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	41							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CTGGCCGCCCGTAGGGGAAAC	0.692000													9	7					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27094308	27094308	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:27094308G>A	ENST00000324856.7	+	11	3387	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K	ARID1A_ENST00000374152.2_Missense_Mutation_p.E623K|ARID1A_ENST00000457599.2_Missense_Mutation_p.E1006K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1006					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E1006*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TACAACCAATGAGAAGATCAC	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	37					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802576	233802576	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:233802576C>T	ENST00000366621.3	+	2	759	c.591C>T	c.(589-591)ttC>ttT	p.F197F	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.F81F	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	197						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GCTTCTTCTTCATCCCGGCCG	0.537000													61	62					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270123	53270123	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:53270123G>A	ENST00000338230.3	-	3	1153	c.886C>T	c.(886-888)Cat>Tat	p.H296Y		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTCCAGTATGAATTCTACGA	0.363000													85	56					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21344765	21344765	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:21344765G>A	ENST00000215739.8	+	8	1101	c.742G>A	c.(742-744)Gga>Aga	p.G248R	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.G229R	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	248					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.G248R(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGCAAAGCGGAGCCAAAAT	0.562000													16	44					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29845311	29845311	+	Silent	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:29845311C>A	ENST00000357402.5	+	5	639	c.501C>A	c.(499-501)atC>atA	p.I167I	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Silent_p.I167I	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	167					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			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						AGGCCACCATCATCAGGCAGA	0.617000													26	24					3.01185e-09	3.13286e-09	1	1	0
RRNAD1	51093	broad.mit.edu	37	1	156703970	156703970	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:156703970G>C	ENST00000368216.4	+	6	1436	c.806G>C	c.(805-807)aGa>aCa	p.R269T	RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	269						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GCCTTGCTGAGACACTTCTCC	0.627000													8	32					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685954	125685954	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:125685954C>T	ENST00000371126.1	-	1	880	c.638G>A	c.(637-639)cGc>cAc	p.R213H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	213										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGTGCCGTCGCGGGAGCCGCT	0.657000													9	1					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226252	39226252	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:39226252G>A	ENST00000340369.3	-	2	4913	c.4685C>T	c.(4684-4686)tCt>tTt	p.S1562F	XIRP1_ENST00000421646.1_Missense_Mutation_p.S245F|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1562							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGAGGCTAGACATGGAGCT	0.572000													56	36					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152342373	152342373	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:152342373G>C	ENST00000397345.3	-	182	25681	c.25479C>G	c.(25477-25479)atC>atG	p.I8493M	NEB_ENST00000603639.1_Missense_Mutation_p.I8493M|NEB_ENST00000397336.2_Missense_Mutation_p.I468M|NEB_ENST00000509223.2_Missense_Mutation_p.I406M|NEB_ENST00000427231.2_Missense_Mutation_p.I8493M|NEB_ENST00000172853.10_Missense_Mutation_p.I6637M|NEB_ENST00000409198.1_Missense_Mutation_p.I6637M|NEB_ENST00000604864.1_Missense_Mutation_p.I8493M	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	6637					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAACATTTATGATGGCATCTC	0.478000													64	52					0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150322232	150322232	+	RNA	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:150322232C>T	ENST00000533735.1	-	0	644					NR_024045.1																						GCTTCATGCTCACAAGACATC	0.512000													20	9					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58115708	58115708	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:58115708G>A	ENST00000597864.1	+	0	348				ZNF530_ENST00000332854.6_Missense_Mutation_p.D32N			Q6P9A1	ZN530_HUMAN	zinc finger protein 530						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGCTCCTTGATGAGATGCA	0.502000													109	68					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3443819	3443819	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:3443819C>T	ENST00000382774.3	+	1	206	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	HGFAC_ENST00000511533.1_Missense_Mutation_p.R31W	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	31					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCTGCTGCCACGGGGGTTCCA	0.711000													9	24					0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108921648	108921648	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:108921648G>A	ENST00000326853.5	+	7	1009	c.556G>A	c.(556-558)Gac>Aac	p.D186N	SULT1C2_ENST00000251481.6_Missense_Mutation_p.D175N|SULT1C2_ENST00000409880.1_Missense_Mutation_p.D138N|SULT1C2_ENST00000437390.2_Missense_Mutation_p.D189N	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	175					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTCCTGGTTTGACCACGTGAA	0.448000													19	51					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101550736	101550736	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:101550736G>A	ENST00000284395.5	+	9	1462	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	LRRK1_ENST00000388948.3_Silent_p.L357L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	357					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCAAAAACTGACAGCTTCAA	0.378000													23	75					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53372390	53372390	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:53372390G>A	ENST00000229416.6	-	9	1455	c.972C>T	c.(970-972)atC>atT	p.I324I		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	324					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GGGATTTACTGATCCTATAGT	0.274000													24	7					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17115889	17115889	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:17115889G>A	ENST00000265970.7	-	27	4369	c.4370C>T	c.(4369-4371)tCa>tTa	p.S1457L	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.S1077L|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1457	PX.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GAAGACAAATGATGGTTCAAT	0.338000													15	18					0	0	1	0	0
SNAPC1	6617	broad.mit.edu	37	14	62229256	62229256	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:62229256C>T	ENST00000216294.4	+	1	182	c.78C>T	c.(76-78)ttC>ttT	p.F26F	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	26	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		GTGTACGCTTCGAGGACTTCA	0.632000													35	61					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533842	88533842	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:88533842C>T	ENST00000399271.1	+	4	624	c.504C>T	c.(502-504)ggC>ggT	p.G168G	DSPP_ENST00000282478.7_Silent_p.G168G|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	168					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GGGATGTTGGCGATGCAGGTC	0.433000													10	25					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28362244	28362244	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:28362244G>A	ENST00000261609.7	-	87	13437	c.13329C>T	c.(13327-13329)gtC>gtT	p.V4443V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4443					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCTGCCCAAAGACAGACTTGG	0.592000													13	22					0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11370222	11370222	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:11370222G>A	ENST00000435245.2	-	1	115	c.6C>T	c.(4-6)gtC>gtT	p.V2V	PRM2_ENST00000241808.4_Silent_p.V2V|RMI2_ENST00000572173.1_Intron			P04554	PRM2_HUMAN	protamine 2	2					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						CGCGGTATCGGACCATGGTGT	0.647000													6	12					0	0	1	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042095	59042095	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:59042095C>T	ENST00000371225.2	-	1	1071	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	245					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					TCCGCGCACGCGCAAGTCCAG	0.637000													4	15					0	0	1	0	0
SNX6	58533	broad.mit.edu	37	14	35050789	35050789	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:35050789G>A	ENST00000396526.3	-	9	960	c.464C>T	c.(463-465)tCa>tTa	p.S155L	SNX6_ENST00000362031.4_Missense_Mutation_p.S283L|SNX6_ENST00000396534.3_Missense_Mutation_p.S155L|SNX6_ENST00000355110.5_Missense_Mutation_p.S159L			Q9UNH7	SNX6_HUMAN	sorting nexin 6	271	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		GAACAGTTCTGAAACTTTGAG	0.303000													35	41					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47359017	47359017	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:47359017C>G	ENST00000399249.2	-	24	2581	c.2527G>C	c.(2527-2529)Gag>Cag	p.E843Q	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E842Q|MYBPC3_ENST00000545968.1_Missense_Mutation_p.E843Q			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	842	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACGCGCATCTCGTACACCACG	0.627000													11	33					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963928	148963928	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:148963928G>A	ENST00000434415.1	+	3	602	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	147					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GACCTTCGATGATGTGGCCGT	0.612000													73	81					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350519	89350519	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:89350519C>G	ENST00000301030.4	-	9	2891	c.2431G>C	c.(2431-2433)Gat>Cat	p.D811H	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D811H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	811	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAAGCAGAATCTTCCCTATAA	0.323000													13	20					0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23115857	23115857	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:23115857C>G	ENST00000397677.1	+	7	1503	c.855C>G	c.(853-855)ctC>ctG	p.L285L	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Silent_p.L285L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	285					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGAGGTCTCTCAAGGCCAAGC	0.572000													48	70					0	0	1	0	0
LOC148709	148709	broad.mit.edu	37	1	202842667	202842667	+	RNA	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:202842667G>C	ENST00000456105.2	+	0	619					NR_002929.2																						GGATGACATGGAGAAGATCTG	0.602000													14	28					0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50501537	50501537	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:50501537G>A	ENST00000301149.3	+	6	1032	c.800G>A	c.(799-801)gGa>gAa	p.G267E	GPD1_ENST00000547190.1_Intron|GPD1_ENST00000548814.1_Missense_Mutation_p.G244E	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	267					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	ACCTGCTATGGAGGGCGGAAC	0.597000													62	62					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93723915	93723915	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:93723915C>T	ENST00000265990.6	+	13	1794	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	496					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.L496F(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATTATGACTCTCCTTTCATC	0.333000													29	27					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66465449	66465449	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:66465449C>A	ENST00000383703.3	-	5	1145	c.542G>T	c.(541-543)gGa>gTa	p.G181V	LRIG1_ENST00000273261.3_Missense_Mutation_p.G181V			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	181						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ATCAAATGCTCCCAACTCCAG	0.493000													21	45					1.64113e-05	1.67529e-05	1	1	0
ATP6V1A	523	broad.mit.edu	37	3	113524363	113524363	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:113524363G>A	ENST00000273398.3	+	14	1860	c.1752G>A	c.(1750-1752)atG>atA	p.M584I	ATP6V1A_ENST00000461496.1_3'UTR|ATP6V1A_ENST00000538620.1_Missense_Mutation_p.M551I	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	584					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTTCCTCCATGAAATTCAAGG	0.373000													47	43					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91479229	91479229	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:91479229C>T	ENST00000416354.1	+	13	1560	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	KIF20B_ENST00000260753.4_Silent_p.V496V|KIF20B_ENST00000371728.3_Silent_p.V496V|KIF20B_ENST00000394289.2_Silent_p.V496V			Q96Q89	KI20B_HUMAN	kinesin family member 20B	496					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTGGACCTGTCAAATCTTCTC	0.308000													54	53					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2794815	2794815	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:2794815C>T	ENST00000307741.6	+	3	486	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	95					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CAAGGACATCCGGACAGCCAG	0.567000													94	86					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49934597	49934597	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:49934597G>C	ENST00000221485.3	-	10	1430	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	SLC17A7_ENST00000543531.1_Missense_Mutation_p.S408C|SLC17A7_ENST00000600601.1_Missense_Mutation_p.S353C	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	420					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GTTCTCACCAGAGATGGCGAA	0.617000													17	64					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184787855	184787855	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:184787855C>T	ENST00000367511.3	-	9	1283	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	364					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ACACGTACTTCACTGAATCCC	0.532000													122	129					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027278	9027278	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:9027278G>A	ENST00000383836.3	-	22	3652	c.3225C>T	c.(3223-3225)ggC>ggT	p.G1075G	SRGAP3_ENST00000360413.3_Silent_p.G1051G	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1075					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGCTGCCCACGCCCGAGCTGC	0.746000			T	RAF1	pilocytic astrocytoma								4	16					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45389471	45389471	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:45389471G>C	ENST00000252483.5	+	8	1342	c.1342G>C	c.(1342-1344)Gag>Cag	p.E448Q	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	448					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTCATGCACTGAGCAGGTAGG	0.597000													20	16					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48566063	48566063	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:48566063C>G	ENST00000537810.1	-	31	4102	c.3498G>C	c.(3496-3498)caG>caC	p.Q1166H	FRYL_ENST00000358350.4_Missense_Mutation_p.Q1166H|FRYL_ENST00000507711.1_Missense_Mutation_p.Q1166H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.Q1166H			O94915	FRYL_HUMAN	FRY-like	1166					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCAGGTTGCTCTGATCAGGGT	0.522000													10	49					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920760	155920760	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:155920760C>G	ENST00000462460.2	-	24	2952	c.2698G>C	c.(2698-2700)Gag>Cag	p.E900Q	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.E827Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.E854Q|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.E855Q|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.E856Q|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.E827Q			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTTCGAGCCTCTTCGGCCTCA	0.731000													13	12					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29356663	29356663	+	Missense_Mutation	SNP	G	G	C	rs138670709		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:29356663G>C	ENST00000320081.5	+	5	765	c.510G>C	c.(508-510)ttG>ttC	p.L170F	CLIP4_ENST00000404424.1_Missense_Mutation_p.L170F|CLIP4_ENST00000401617.2_Missense_Mutation_p.L63F|CLIP4_ENST00000401605.1_Missense_Mutation_p.L170F	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	170										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GAGTGATTTTGAAAACATCGA	0.343000													15	33					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57007392	57007392	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:57007392C>T	ENST00000200676.3	+	9	1030	c.900C>T	c.(898-900)ctC>ctT	p.L300L	CETP_ENST00000566128.1_Silent_p.L235L|CETP_ENST00000379780.2_Intron	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	300					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ATGGCCGCCTCATGCTCAGCC	0.597000													21	16					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37576126	37576126	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:37576126G>C	ENST00000300651.6	-	14	1364	c.1141C>G	c.(1141-1143)Cct>Gct	p.P381A	MED1_ENST00000394287.3_Missense_Mutation_p.P381A	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	381	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCTGGAAGAGGAGCATCCTTG	0.468000										HNSCC(31;0.082)			22	61					0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6150955	6150955	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:6150955C>G	ENST00000306177.5	+	2	349	c.191C>G	c.(190-192)tCg>tGg	p.S64W		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	64					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GTAGTTTATTCGAGTTCATCT	0.418000													4	6					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26177222	26177222	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:26177222C>G	ENST00000264712.3	-	4	2382	c.1803G>C	c.(1801-1803)gaG>gaC	p.E601D	KIF3C_ENST00000405914.1_Missense_Mutation_p.E601D	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	601					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCTGGATCTCCGCCTTCA	0.647000													8	20					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49179593	49179593	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:49179593C>G	ENST00000340334.7	-	15	1766	c.1398G>C	c.(1396-1398)ctG>ctC	p.L466L	FOLH1_ENST00000356696.3_Silent_p.L481L|FOLH1_ENST00000256999.2_Silent_p.L481L|FOLH1_ENST00000343844.4_Silent_p.L173L|FOLH1_ENST00000533034.1_Silent_p.L466L	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	481	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.L481L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CAGGGCTTTTCAGCTACACAA	0.353000													33	39					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62472829	62472829	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:62472829G>C	ENST00000433053.1	-	3	904	c.348C>G	c.(346-348)ttC>ttG	p.F116L	BSCL2_ENST00000403550.1_Missense_Mutation_p.F52L|BSCL2_ENST00000537604.1_Intron|BSCL2_ENST00000421906.1_Missense_Mutation_p.F52L|BSCL2_ENST00000407022.3_Missense_Mutation_p.F52L|BSCL2_ENST00000405837.1_Missense_Mutation_p.F116L|BSCL2_ENST00000278893.7_Missense_Mutation_p.F52L|BSCL2_ENST00000360796.5_Missense_Mutation_p.F116L|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	52					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AGGAATAGTAGAAGGAGCCAT	0.532000													5	15					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45496468	45496468	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr21:45496468G>T	ENST00000291574.4	+	10	1511	c.1336G>T	c.(1336-1338)Gaa>Taa	p.E446*		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	446					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAAACTGAAAGAAGCATTATC	0.378000													10	34					3.86212e-05	3.92958e-05	1	1	0
BAI3	577	broad.mit.edu	37	6	69943264	69943264	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:69943264C>T	ENST00000370598.1	+	18	3384	c.2563C>T	c.(2563-2565)Cgt>Tgt	p.R855C	BAI3_ENST00000238918.8_Missense_Mutation_p.R61C	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	855	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)				CTTATGTGATCGTCTCTCTAC	0.473000													51	13					0	0	1	0	0
EIF4EBP2	1979	broad.mit.edu	37	10	72164229	72164229	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:72164229C>T	ENST00000373218.4	+	1	95	c.72C>T	c.(70-72)atC>atT	p.I24I		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	24					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding			large_intestine(1)	1						CCGTGGCCATCAGCGACGCCG	0.726000													4	6					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110420286	110420286	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:110420286G>C	ENST00000378402.5	+	18	1926	c.1822G>C	c.(1822-1824)Gat>Cat	p.D608H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	608					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGAGACTTTGATCTGCTTGG	0.299000										HNSCC(38;0.096)			14	21					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8862780	8862780	+	Missense_Mutation	SNP	G	G	A	rs150277326		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:8862780G>A	ENST00000396600.2	+	11	1704	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	ABAT_ENST00000425191.2_Missense_Mutation_p.E256K|ABAT_ENST00000567812.1_Missense_Mutation_p.E271K|ABAT_ENST00000268251.8_Missense_Mutation_p.E256K|ABAT_ENST00000569156.1_Missense_Mutation_p.E256K	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	256					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	p.E256K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ATACCCTCTGGAAGAGTTTGT	0.542000													58	77					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89943314	89943314	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:89943314G>C	ENST00000405460.2	+	17	3118		c.e17-1			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGATATTTCAGAACCTCGTGT	0.438000													9	13					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220156627	220156627	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:220156627G>C	ENST00000366923.3	-	22	3473	c.3204C>G	c.(3202-3204)atC>atG	p.I1068M		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1068	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CAAGTTTCTTGATCTCAGCAT	0.423000													35	50					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50302963	50302963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:50302963G>A	ENST00000330817.6	-	6	970	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GTGAGCTGCCGCCAAAAATAA	0.502000													4	79					0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159780240	159780240	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:159780240G>A	ENST00000264433.6	+	9	964	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	FNIP2_ENST00000379346.3_Missense_Mutation_p.E320K	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	297					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CTTGGCTGAAGAAACCTGTAG	0.408000													52	36					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103055170	103055170	+	Silent	SNP	T	T	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:103055170T>A	ENST00000262457.2	+	14	2816	c.2631T>A	c.(2629-2631)acT>acA	p.T877T	INVS_ENST00000262456.2_Intron|INVS_ENST00000541287.1_Silent_p.T781T	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	877					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CTAAGGAGACTGATCCAGCAC	0.522000													13	36					0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29280326	29280326	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:29280326G>A	ENST00000330889.3	+	8	1097	c.762G>A	c.(760-762)agG>agA	p.R254R	ADAP2_ENST00000580525.1_Silent_p.R260R	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	254					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCCTCACCAGGAACTACCTCA	0.512000													21	25					0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43928013	43928013	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:43928013G>C	ENST00000396879.1	-	10	1145	c.1033C>G	c.(1033-1035)Cag>Gag	p.Q345E	CATSPER2_ENST00000355438.2_Missense_Mutation_p.Q345E|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000321596.5_Missense_Mutation_p.Q345E|CATSPER2_ENST00000381761.1_Missense_Mutation_p.Q351E|CATSPER2_ENST00000354127.4_Missense_Mutation_p.Q345E	NM_001282309.1	NP_001269238.1	Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	345					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CTGATATTCTGAAAGTTAGTA	0.507000													6	14					0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36258847	36258847	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:36258847C>T	ENST00000544099.1	+	9	1163	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	C19orf55_ENST00000396908.4_Missense_Mutation_p.S367L			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	367										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCAAGGCCTCGCCGCCAGCC	0.711000													7	7					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178082552	178082552	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:178082552G>A	ENST00000411529.2	+	8	925	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.E314K|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.E314K	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	314	Gly-rich.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TGGTTACAATGAAGGAGGAAA	0.418000													17	64					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41537060	41537060	+	Nonsense_Mutation	SNP	C	C	G	rs144594889		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:41537060C>G	ENST00000263253.7	+	10	3106	c.1887C>G	c.(1885-1887)taC>taG	p.Y629*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	629	KIX.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGGCGGAATACTACCACCTTC	0.368000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				8	28					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101816871	101816871	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:101816871C>G	ENST00000370418.3	-	6	1161	c.910G>C	c.(910-912)Gag>Cag	p.E304Q		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	304	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AGCGTGATCTCAAAGCAGTTG	0.507000													38	146					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111705142	111705142	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:111705142T>A	ENST00000374595.4	-	19	2228	c.2149A>T	c.(2149-2151)Aga>Tga	p.R717*	CTNNAL1_ENST00000325551.4_Intron|CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000374594.1_Intron|FAM206A_ENST00000374624.3_Intron			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	0					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AATTAGTATCTGGTTTCACTC	0.299000													13	25					0	0	1	0	0
SLC25A34	284723	broad.mit.edu	37	1	16064426	16064426	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:16064426C>G	ENST00000294454.5	+	2	462	c.381C>G	c.(379-381)atC>atG	p.I127M	SLC25A34_ENST00000489568.1_3'UTR	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	127					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCATAGATCAAAACGCAGC	0.642000													24	14					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92706131	92706131	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:92706131C>G	ENST00000318445.6	+	10	2113	c.1899C>G	c.(1897-1899)ctC>ctG	p.L633L	SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Silent_p.L633L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	633					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CCATCGCGCTCAAATCCTTCG	0.557000													31	25					0	0	1	0	0
GEMIN2	8487	broad.mit.edu	37	14	39597544	39597544	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:39597544C>G	ENST00000308317.6	+	7	708	c.625C>G	c.(625-627)Cca>Gca	p.P209A	GEMIN2_ENST00000396249.2_Missense_Mutation_p.P209A|GEMIN2_ENST00000250379.8_Missense_Mutation_p.P194A	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	209					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										AGACTTTACTCCAGAATTGGT	0.368000													40	30					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55042022	55042022	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:55042022G>C	ENST00000330807.5	-	8	1294	c.1157C>G	c.(1156-1158)tCt>tGt	p.S386C	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.S373C|ALAS2_ENST00000335854.4_Missense_Mutation_p.S349C	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	386					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	AAGAGTTCCAGAGATGATGTC	0.502000													31	10					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17609189	17609189	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:17609189C>T	ENST00000226299.4	+	13	1811	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.R482C	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	513					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	p.R513C(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GTTCTTACTTCGTTTCAGTCA	0.393000													22	18					0	0	1	0	0
BLOC1S3	388552	broad.mit.edu	37	19	45682597	45682597	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:45682597G>C	ENST00000433642.2	+	2	139	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	BLOC1S3_ENST00000587722.1_Missense_Mutation_p.E15Q	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	15					cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding			ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GCGGAGGCCGGAGACGGTGGT	0.721000									Hermansky-Pudlak syndrome				6	18					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67645168	67645168	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:67645168G>C	ENST00000264010.4	+	3	877	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	145					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.E145*(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGTGTCTAAAGAGGGCCTTGC	0.483000													51	49					0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173881128	173881128	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:173881128C>T	ENST00000367698.3	-	3	551	c.433G>A	c.(433-435)Gag>Aag	p.E145K	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	145					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GATGTTTTCTCAGATATGGTG	0.433000													42	61					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42609732	42609732	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:42609732G>A	ENST00000359486.3	-	1	1716	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L	TCF20_ENST00000335626.4_Missense_Mutation_p.S527L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTGATCCTCTGAACTGCTGGA	0.542000													55	153					0	0	1	0	0
MTERF	7978	broad.mit.edu	37	7	91503921	91503921	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:91503921G>C	ENST00000419292.1	-	2	203	c.127C>G	c.(127-129)Cat>Gat	p.H43D	MTERF_ENST00000406735.2_Missense_Mutation_p.H43D|MTERF_ENST00000351870.3_Missense_Mutation_p.H63D			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	63					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TCTGTATTATGACACTTCACA	0.378000													12	42					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1635761	1635761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:1635761C>T	ENST00000409644.1	+	5	4300	c.4300C>T	c.(4300-4302)Cag>Tag	p.Q1434*	WDR81_ENST00000437219.2_Nonsense_Mutation_p.Q231*|WDR81_ENST00000419248.1_Nonsense_Mutation_p.Q207*|WDR81_ENST00000545662.1_Nonsense_Mutation_p.Q65*|WDR81_ENST00000446363.1_Nonsense_Mutation_p.Q73*|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Nonsense_Mutation_p.Q383*	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	207										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTCTTCTCTCAGCTGCATGA	0.637000													24	19					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	99988121	99988121	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:99988121G>A	ENST00000289371.6	+	9	1682	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B		Poly-Glu.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTTACAGAAGAAGAAGAAGA	0.323000													6	20					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36899334	36899334	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:36899334C>G	ENST00000301807.6	-	12	1994	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	TRANK1_ENST00000428977.2_Missense_Mutation_p.E33Q|TRANK1_ENST00000429976.2_Missense_Mutation_p.E583Q			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	583					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCTTTGCCCTCTTTGTTCTTC	0.512000													32	95					0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2909244	2909244	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:2909244G>A	ENST00000001008.4	+	7	989	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	268	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	AGAGAAGCTGGAACAGAGCAC	0.527000													22	27					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21534559	21534559	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:21534559G>A	ENST00000313654.9	+	75	10190	c.9949G>A	c.(9949-9951)Gaa>Aaa	p.E3317K	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.E1652K|LAMA3_ENST00000269217.6_Missense_Mutation_p.E1708K|LAMA3_ENST00000399516.3_Missense_Mutation_p.E3261K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3317	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTGTCACTGAAGCCTTGGA	0.468000													16	46					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67052440	67052440	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:67052440G>A	ENST00000308595.5	+	19	2067	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	593	PH.				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			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)	GTGGCGGGGCGAGGGCGAGGC	0.697000													3	14					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128313846	128313846	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:128313846C>G	ENST00000368227.3	-	20	3270	c.2904G>C	c.(2902-2904)caG>caC	p.Q968H	PTPRK_ENST00000368213.5_Missense_Mutation_p.Q957H|PTPRK_ENST00000368207.3_Missense_Mutation_p.Q983H|PTPRK_ENST00000368215.3_Missense_Mutation_p.Q950H|PTPRK_ENST00000368210.3_Missense_Mutation_p.Q969H|PTPRK_ENST00000532331.1_Missense_Mutation_p.Q973H|PTPRK_ENST00000368226.4_Missense_Mutation_p.Q951H			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	950	Tyrosine-protein phosphatase 1.				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		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)		GACTTGGTCTCTGGTAGCCCT	0.303000													38	12					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70164432	70164432	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:70164432C>G	ENST00000288050.4	+	7	1671	c.714C>G	c.(712-714)gtC>gtG	p.V238V	PDPR_ENST00000568530.1_Silent_p.V238V|PDPR_ENST00000398122.3_Silent_p.V138V	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	238					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGTATTTTGTCAACTGTGCTG	0.403000													13	48					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22048160	22048160	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:22048160C>T	ENST00000308271.9	-	13	2394	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	USP48_ENST00000529637.1_Silent_p.L581L|USP48_ENST00000374732.3_Silent_p.L121L|USP48_ENST00000400301.1_Silent_p.L582L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	582	DUSP 2.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			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)		CTGCTGCTTTCAGCAGATTAT	0.348000													15	19					0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115663332	115663332	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:115663332G>A	ENST00000369301.3	+	9	1753	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	514					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ACATTAGCAGGAACTGGAGAC	0.313000													41	121					0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2909647	2909647	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:2909647G>C	ENST00000001008.4	+	8	1123	c.936G>C	c.(934-936)caG>caC	p.Q312H	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	312	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	AGGAAGCACAGAAAGCACAGG	0.463000													22	11					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66081710	66081710	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:66081710C>G	ENST00000349533.6	+	15	2200	c.2015C>G	c.(2014-2016)tCa>tGa	p.S672*	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Nonsense_Mutation_p.S672*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.S672*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.S672*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.S672*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	672	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAAAATGACTCATTGTGCAGT	0.383000													16	31					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67316738	67316738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:67316738C>T	ENST00000360461.5	+	10	4021	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*	PLEKHG4_ENST00000379344.3_Nonsense_Mutation_p.Q496*|PLEKHG4_ENST00000427155.2_Nonsense_Mutation_p.Q496*|PLEKHG4_ENST00000450733.1_Nonsense_Mutation_p.Q415*	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	496					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AGGCTCTTTTCAGGAGCTGTA	0.572000													16	12					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34862378	34862378	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:34862378G>C	ENST00000431794.3	-	18	2236	c.1714C>G	c.(1714-1716)Cct>Gct	p.P572A	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	572	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGGTTAGTAGGAAACAGCCCC	0.592000													31	47					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72873955	72873955	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:72873955G>A	ENST00000339594.4	-	13	3681	c.3343C>T	c.(3343-3345)Ccc>Tcc	p.P1115S	BAZ1B_ENST00000404251.1_Missense_Mutation_p.P1115S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1115					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTGCTTGGGAGCCATGAAG	0.398000													20	54					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917953	65917953	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:65917953C>T	ENST00000261892.6	+	2	1822	c.1535C>T	c.(1534-1536)tCc>tTc	p.S512F	SLC24A1_ENST00000544319.2_Missense_Mutation_p.S512F|SLC24A1_ENST00000399033.4_Missense_Mutation_p.S512F|SLC24A1_ENST00000546330.1_Missense_Mutation_p.S512F|SLC24A1_ENST00000339868.6_Missense_Mutation_p.S512F|SLC24A1_ENST00000537259.1_Missense_Mutation_p.S512F	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	512					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCTTCACCTCCCTCATCGGT	0.552000													23	65					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3654096	3654096	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:3654096C>G	ENST00000356518.2	-	11	1279	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.E346D|ADAM33_ENST00000350009.2_Missense_Mutation_p.E346D	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	346	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGTGGCCGATCTCATGGGCCA	0.731000													3	4					0	0	1	0	0
WHAMM	123720	broad.mit.edu	37	15	83478699	83478699	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:83478699C>T	ENST00000286760.4	+	1	320	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	74						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						GCCGCCGTCTCCCCGTCCAGC	0.776000													3	2					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85546847	85546847	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:85546847A>T	ENST00000393217.2	+	21	4526	c.4465A>T	c.(4465-4467)Agt>Tgt	p.S1489C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1489										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAATTTACCAAGTAATCCAGC	0.289000													74	116					0	0	1	0	0
AMN	81693	broad.mit.edu	37	14	103395131	103395131	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:103395131C>G	ENST00000299155.5	+	5	365	c.332C>G	c.(331-333)tCc>tGc	p.S111C		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	111					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACCGCTTCTCCTGGCATGAC	0.682000													4	26					0	0	1	0	0
MTERF	7978	broad.mit.edu	37	7	91503429	91503429	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:91503429G>A	ENST00000419292.1	-	2	695	c.619C>T	c.(619-621)Cac>Tac	p.H207Y	MTERF_ENST00000406735.2_Missense_Mutation_p.H207Y|MTERF_ENST00000351870.3_Missense_Mutation_p.H227Y			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	227					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GGATCATTGTGACCCAATGAC	0.398000													21	42					0	0	1	0	0
PSMF1	9491	broad.mit.edu	37	20	1108111	1108111	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:1108111G>A	ENST00000335877.6	+	3	501	c.325G>A	c.(325-327)Gat>Aat	p.D109N	PSMF1_ENST00000333082.3_Missense_Mutation_p.D109N|PSMF1_ENST00000381898.4_Missense_Mutation_p.D21N|PSMF1_ENST00000438768.2_Missense_Mutation_p.D109N|PSMF1_ENST00000246015.4_Missense_Mutation_p.D109N	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	109					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|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	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCTGAACTTGGATGATTATAT	0.443000													55	94					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53495720	53495720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:53495720C>T	ENST00000262133.6	+	10	1551	c.1414C>T	c.(1414-1416)Cag>Tag	p.Q472*	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Nonsense_Mutation_p.Q256*	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	472	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AATATATTCTCAGCATTTCCA	0.328000													10	38					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20269457	20269457	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:20269457G>C	ENST00000245957.5	+	23	3077	c.3001G>C	c.(3001-3003)Gaa>Caa	p.E1001Q	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1001										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CAGTTCCAAAGAAATTGGCTT	0.498000													29	44					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118819474	118819474	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:118819474C>G	ENST00000378204.2	-	9	2671	c.1865G>C	c.(1864-1866)gGa>gCa	p.G622A		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	622					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AATAGCAGCTCCTGTCAACAC	0.468000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				21	77					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563285	140563285	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:140563285C>T	ENST00000361016.2	+	1	2306	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		384	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGATTTCCTCCATCCAGGAA	0.478000													32	46					0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37105153	37105153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:37105153G>A	ENST00000263918.4	-	10	1212	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	STRN_ENST00000379213.2_Missense_Mutation_p.P353S	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	402					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GAAGAAGGAGGAAATGTCAAT	0.423000													10	117					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32871363	32871363	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:32871363C>G	ENST00000382058.3	+	1	140	c.15C>G	c.(13-15)ccC>ccG	p.P5P	FBXO7_ENST00000266087.7_Intron|FBXO7_ENST00000397426.1_5'UTR	NM_001033024.1	NP_001028196.1	Q9Y3I1	FBX7_HUMAN	F-box protein 7	0					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCGGCCTCCCGGGGGCTCTG	0.662000													8	21					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121290428	121290428	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:121290428G>C	ENST00000297848.3	+	27	3562	c.3292G>C	c.(3292-3294)Gat>Cat	p.D1098H	COL14A1_ENST00000247781.3_Missense_Mutation_p.D1003H|COL14A1_ENST00000309791.4_Missense_Mutation_p.D1098H	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1098	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			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)			GACTCTTCTTGATGCAATTAA	0.358000													26	40					0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94180495	94180495	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:94180495G>A	ENST00000323929.3	-	15	1895	c.1673C>T	c.(1672-1674)tCt>tTt	p.S558F	MRE11A_ENST00000393241.4_Missense_Mutation_p.S558F|MRE11A_ENST00000323977.3_Missense_Mutation_p.S558F|MRE11A_ENST00000407439.3_Missense_Mutation_p.S561F	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	558					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GCTATCATCAGAGTCATTAGC	0.493000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				54	56					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53746277	53746277	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:53746277C>T	ENST00000306052.6	-	4	579	c.478G>A	c.(478-480)Gag>Aag	p.E160K	LRP8_ENST00000347547.2_Missense_Mutation_p.E160K|LRP8_ENST00000354412.3_Missense_Mutation_p.E160K|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.E160K	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	160	LDL-receptor class A 3.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CAGCCGGCCTCATCCGCTCCA	0.647000													8	30					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160697271	160697271	+	Missense_Mutation	SNP	G	G	C	rs147904044	byFrequency	TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:160697271G>C	ENST00000263636.4	-	25	3503	c.3476C>G	c.(3475-3477)tCt>tGt	p.S1159C	LY75_ENST00000554112.1_Missense_Mutation_p.S1159C|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S1159C|LY75_ENST00000553424.1_Missense_Mutation_p.S1159C|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S1159C	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CCATAAGGAAGAGTTGTGAAG	0.483000													12	51					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671445	31671445	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:31671445C>T	ENST00000375483.3	+	3	442	c.442C>T	c.(442-444)Cac>Tac	p.H148Y		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	148	Gly-rich.					cytoplasm|extracellular region	lipid binding										GGGCAGGCTTCACCGGCGAGA	0.642000													28	45					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137619132	137619132	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:137619132C>G	ENST00000371817.3	+	5	1089	c.675C>G	c.(673-675)ctC>ctG	p.L225L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	225	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCAGCTGCTCTTTGTCTCGG	0.567000													40	49					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38279349	38279349	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:38279349G>A	ENST00000447712.2	-	8	1988	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	FGFR1_ENST00000356207.5_Silent_p.L260L|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000532791.1_Silent_p.L349L|FGFR1_ENST00000425967.3_Silent_p.L380L|FGFR1_ENST00000397108.4_Silent_p.L347L|FGFR1_ENST00000326324.6_Silent_p.L258L|FGFR1_ENST00000335922.5_Silent_p.L341L|FGFR1_ENST00000397091.5_Silent_p.L347L|FGFR1_ENST00000397113.2_Silent_p.L347L|FGFR1_ENST00000397103.1_Intron	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	349	Ig-like C2-type 3.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	AGTGATGGGAGAGTCCGATAG	0.527000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						10	47					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131853249	131853249	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:131853249G>A	ENST00000359827.3	-	22	5062	c.4100C>T	c.(4099-4101)tCc>tTc	p.S1367F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1367F			Q9HCM2	PLXA4_HUMAN	plexin A4	1367						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCGGATGAAGGACAGCAGGAA	0.597000													17	22					0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77324701	77324701	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:77324701C>T	ENST00000558012.1	+	11	1293	c.804C>T	c.(802-804)ttC>ttT	p.F268F	PSTPIP1_ENST00000559295.1_Silent_p.F268F|PSTPIP1_ENST00000379595.3_Silent_p.F268F|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000267939.5_Silent_p.F267F	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	268					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TCGACAGTTTCATCCAGGCCA	0.667000													18	16					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110255781	110255781	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:110255781C>T	ENST00000369812.5	+	3	224	c.153C>T	c.(151-153)ttC>ttT	p.F51F	GSTM5_ENST00000256593.3_Silent_p.F51F|GSTM5_ENST00000369813.1_5'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	51	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	ATGAAAAATTCAAGCTGGGCC	0.562000													18	77					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8376056	8376056	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:8376056G>A	ENST00000332175.8	+	23	4182	c.3145G>A	c.(3145-3147)Gaa>Aaa	p.E1049K	PTPRM_ENST00000444013.1_Missense_Mutation_p.E836K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1063K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1062K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E987K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1049	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGGTGTGCATGAAATCCGAGA	0.527000													15	48					0	0	1	0	0
C19orf47	126526	broad.mit.edu	37	19	40828047	40828047	+	Silent	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:40828047C>A	ENST00000582783.1	-	9	1023	c.1011G>T	c.(1009-1011)cgG>cgT	p.R337R	C19orf47_ENST00000584868.1_5'UTR|C19orf47_ENST00000392035.2_Silent_p.R270R	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	337										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CAAGCCCAGACCGTGAGGAAA	0.632000													13	43					0.00010058	0.000102114	1	1	0
C1orf106	55765	broad.mit.edu	37	1	200878490	200878490	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:200878490G>C	ENST00000367342.4	+	8	1379	c.1179G>C	c.(1177-1179)gaG>gaC	p.E393D	C1orf106_ENST00000413687.2_Missense_Mutation_p.E308D	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	393										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCACCCCTGAGATACAGGGGA	0.637000													6	6					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	132973744	132973744	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:132973744G>T	ENST00000253861.4	+	3	374	c.345G>T	c.(343-345)tgG>tgT	p.W115C	EXOC4_ENST00000393161.2_Missense_Mutation_p.W115C|EXOC4_ENST00000539845.1_Missense_Mutation_p.W14C	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	115					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GGAAACTGTGGATTGAAGGAA	0.448000													17	42					3.99206e-14	4.19932e-14	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72992753	72992753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:72992753G>A	ENST00000268489.5	-	2	1964	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	431					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTGCCCTCTGAGGATTTGGT	0.612000													37	87					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117780580	117780580	+	Silent	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:117780580G>T	ENST00000528626.1	-	7	1018	c.945C>A	c.(943-945)atC>atA	p.I315I	TMPRSS13_ENST00000445164.2_Silent_p.I350I|TMPRSS13_ENST00000430170.2_Silent_p.I350I|TMPRSS13_ENST00000524993.1_Silent_p.I350I|TMPRSS13_ENST00000526090.1_Silent_p.I350I	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	345	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGCCTCCACAGATGTGGGTGG	0.632000													3	19					0.004672	0.00471245	1	1	0
PSG5	5673	broad.mit.edu	37	19	43683307	43683307	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:43683307C>T	ENST00000599812.1	-	3	528	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	PSG5_ENST00000366175.3_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	145					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTGGGAGTTTCCACTTTGCAG	0.507000													52	251					0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39591412	39591412	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:39591412C>T	ENST00000594229.1	+	5	636	c.602C>T	c.(601-603)tCt>tTt	p.S201F	PAPL_ENST00000331256.5_Silent_p.F242F			Q6ZNF0	PAPL_HUMAN		0						extracellular region	acid phosphatase activity|metal ion binding										TCATCTCCTTCTCCACCGAGG	0.607000													39	15					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109091082	109091082	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:109091082G>A	ENST00000261483.4	+	5	1812	c.760G>A	c.(760-762)Gat>Aat	p.D254N		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	254					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GGTTATGCCTGATGAAGCTAC	0.318000													39	67					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34092499	34092499	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:34092499C>G	ENST00000257209.4	+	5	626	c.504C>G	c.(502-504)atC>atG	p.I168M	FHOD3_ENST00000359247.4_Missense_Mutation_p.I168M|FHOD3_ENST00000445677.1_Missense_Mutation_p.I168M|FHOD3_ENST00000590592.1_Missense_Mutation_p.I168M	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	168	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGAACTACATCTTAAGGGGTA	0.478000													5	19					0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	722530	722530	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:722530G>C	ENST00000533256.1	+	14	1564	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.E397Q|EPS8L2_ENST00000530636.1_Missense_Mutation_p.E397Q|EPS8L2_ENST00000526198.1_Missense_Mutation_p.E413Q			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	397						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCACTGGGAGAGAGCTGGAT	0.697000													11	16					0	0	1	0	0
SNX2	6643	broad.mit.edu	37	5	122135419	122135419	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:122135419G>A	ENST00000379516.2	+	3	367	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_5'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	87				E -> A (in Ref. 3; AAQ02693).	cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GGACAGCCCTGAAAGGGAACC	0.433000													82	112					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121182722	121182722	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:121182722G>A	ENST00000392870.2	+	5	713	c.384G>A	c.(382-384)caG>caA	p.Q128Q	GRK5_ENST00000369108.3_Silent_p.Q23Q	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	128	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGGTCTCCCAGACGGAGGAGA	0.597000													33	140					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42611299	42611299	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:42611299G>A	ENST00000359486.3	-	1	149	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	TCF20_ENST00000335626.4_Missense_Mutation_p.R5W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTGCTCCCGAAAGGACTGC	0.507000													19	11					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71650277	71650277	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:71650277G>A	ENST00000409544.1	+	22	4263	c.3633G>A	c.(3631-3633)aaG>aaA	p.K1211K	ZNF638_ENST00000409407.1_Silent_p.K151K|ZNF638_ENST00000264447.4_Silent_p.K1211K|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1211	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			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						ACTTGGAGAAGAAAGGGGCAG	0.398000													20	58					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11957849	11957849	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:11957849G>A	ENST00000339865.5	+	16	2428		c.e16-1		USP47_ENST00000399455.2_Splice_Site|USP47_ENST00000539466.1_Splice_Site|USP47_ENST00000527733.1_Splice_Site	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47						base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CTTTCTTTTAGATGATGGATT	0.308000													15	19					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420733	49420733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:49420733C>A	ENST00000301067.7	-	48	15015	c.15016G>T	c.(15016-15018)Gag>Tag	p.E5006*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACTTCCCGCTCATCCTCCTGC	0.597000													11	52					6.40141e-05	6.50612e-05	1	1	0
BID	637	broad.mit.edu	37	22	18220834	18220834	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:18220834C>T	ENST00000317361.7	-	5	989	c.663G>A	c.(661-663)gtG>gtA	p.V221V	BID_ENST00000342111.5_3'UTR|BID_ENST00000399765.1_Silent_p.V79V|BID_ENST00000399774.3_Silent_p.V175V|BID_ENST00000551952.1_Silent_p.V175V|BID_ENST00000399767.1_Silent_p.V79V|BID_ENST00000473439.1_5'UTR	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	175					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TAATAAAATTCACTGTTGTGT	0.547000													27	29					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42680115	42680115	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:42680115C>T	ENST00000358131.5	+	4	816	c.608C>T	c.(607-609)cCg>cTg	p.P203L	TOX2_ENST00000423191.2_Missense_Mutation_p.P152L|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Missense_Mutation_p.P152L|TOX2_ENST00000341197.4_Missense_Mutation_p.P194L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCATCACCGCCGGGGAGCAAG	0.627000													19	14					0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102807825	102807825	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:102807825G>A	ENST00000262236.5	+	8	2106	c.1751G>A	c.(1750-1752)cGg>cAg	p.R584Q	ZNF839_ENST00000558850.1_Missense_Mutation_p.R582Q|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000442396.2_Missense_Mutation_p.R698Q|ZNF839_ENST00000559185.1_Missense_Mutation_p.R582Q	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	582						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCTCATCCCGGGATGTCAGT	0.592000													6	22					0	0	1	0	0
SLC46A1	113235	broad.mit.edu	37	17	26732448	26732448	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:26732448C>A	ENST00000440501.1	-	2	362	c.267G>T	c.(265-267)atG>atT	p.M89I	SLC46A1_ENST00000321666.5_Missense_Mutation_p.M89I|CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000584729.1_5'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	89					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	CGCCCACGTTCATGTAGAGGG	0.632000													8	4					0.000157383	0.00015961	1	1	0
ZFP42	132625	broad.mit.edu	37	4	188924537	188924537	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:188924537G>A	ENST00000326866.4	+	4	984	c.576G>A	c.(574-576)caG>caA	p.Q192Q	ZFP42_ENST00000509524.1_Silent_p.Q192Q	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	192					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CTTGTCCTCAGAGTGGATGCA	0.488000													65	46					0	0	1	0	0
NARF	26502	broad.mit.edu	37	17	80439087	80439087	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:80439087G>A	ENST00000309794.11	+	7	967	c.769G>A	c.(769-771)Ggt>Agt	p.G257S	NARF_ENST00000345415.7_Splice_Site_p.G209S|NARF_ENST00000390006.4_Splice_Site_p.G198S|NARF_ENST00000412079.2_Splice_Site_p.G129S|NARF_ENST00000457415.3_Splice_Site_p.G303S	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor							lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GTTAACATCAGGTGAGAGGTG	0.597000													21	38					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135835	46135835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:46135835C>T	ENST00000371383.2	-	3	425	c.165G>A	c.(163-165)atG>atA	p.M55I	ENPP5_ENST00000230565.3_Missense_Mutation_p.M55I			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	55						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CACCATATTTCATAATATAAT	0.363000													27	7					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156908267	156908267	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:156908267C>G	ENST00000368194.3	-	38	5174	c.4135G>C	c.(4135-4137)Gag>Cag	p.E1379Q	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.E1339Q|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.E755Q|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1339					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGCCACTCTCTGGTAGTGCA	0.562000													27	43					0	0	1	0	0
RHOJ	57381	broad.mit.edu	37	14	63749851	63749851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:63749851G>A	ENST00000316754.3	+	4	877	c.415G>A	c.(415-417)Gat>Aat	p.D139N	RHOJ_ENST00000555125.1_Missense_Mutation_p.D139N	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	139					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		TGATCTCCGTGATGACCCAAA	0.418000													24	34					0	0	1	0	0
PSMC2	5701	broad.mit.edu	37	7	103003799	103003799	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:103003799G>A	ENST00000435765.1	+	8	915	c.504G>A	c.(502-504)gaG>gaA	p.E168E	PSMC2_ENST00000292644.3_Silent_p.E168E|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Silent_p.E31E	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	168					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGGTGGAAGAGAAACCTGATG	0.393000													12	33					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282220	28282220	+	Missense_Mutation	SNP	C	C	T	rs138724868		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:28282220C>T	ENST00000373894.3	+	6	907	c.716C>T	c.(715-717)cCg>cTg	p.P239L	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.P239L|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.P191L|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	239					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	p.P239Q(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CACGTGCCCCCGGGGTTCTTT	0.542000													23	66					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66788114	66788114	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:66788114C>G	ENST00000359742.4	-	17	2243	c.2003G>C	c.(2002-2004)gGa>gCa	p.G668A	GRIP1_ENST00000542021.1_5'UTR|GRIP1_ENST00000286445.7_Missense_Mutation_p.G668A|GRIP1_ENST00000398016.3_Missense_Mutation_p.G616A			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	668					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			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)		AATAATTGCTCCGGAACTTTC	0.388000													80	53					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2420750	2420750	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:2420750C>T	ENST00000449969.1	+	9	1420	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L	PLCH2_ENST00000378486.3_Missense_Mutation_p.S447L|PLCH2_ENST00000419816.2_Missense_Mutation_p.S447L|PLCH2_ENST00000378488.3_Missense_Mutation_p.S447L|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	447	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GACCTGTCATCAGTGAGCAGT	0.557000													21	49					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57437642	57437642	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:57437642C>T	ENST00000442789.2	-	11	1177	c.890G>A	c.(889-891)aGa>aAa	p.R297K	MYO1A_ENST00000544473.1_Missense_Mutation_p.R135K|MYO1A_ENST00000300119.3_Missense_Mutation_p.R297K	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	297	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGCAGACCTCTCCCATCACG	0.537000													31	18					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100079428	100079428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:100079428G>A	ENST00000375202.2	+	23	2361	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.E476K|CCDC180_ENST00000395220.1_Missense_Mutation_p.E476K|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.E334K|CCDC180_ENST00000529487.1_Missense_Mutation_p.E337K					coiled-coil domain containing 180																		CCTGCAGCAGGAGCTGGACAG	0.612000													32	26					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103013249	103013249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:103013249C>T	ENST00000409599.1	+	12	1885	c.1529C>T	c.(1528-1530)tCa>tTa	p.S510L	IL18R1_ENST00000233957.1_Missense_Mutation_p.S510L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	510	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCTTATAACTCAAGGTTCTGG	0.418000													39	34					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112998152	112998152	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:112998152G>A	ENST00000495514.1	+	12	2574	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Missense_Mutation_p.V624M|BOC_ENST00000273395.4_Missense_Mutation_p.V625M			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	624	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTCAGTGTACGTGACCTGGAT	0.577000													8	46					0	0	1	0	0
THOC1	9984	broad.mit.edu	37	18	265362	265362	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:265362C>T	ENST00000261600.6	-	3	137	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	44					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTTTCATTTTCACTATTAAAA	0.303000													7	7					0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84066983	84066983	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:84066983G>A	ENST00000299709.3	-	3	479	c.480C>T	c.(478-480)gtC>gtT	p.V160V		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	160					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGGGCAGGATGACCAGCACGG	0.662000													50	46					0	0	1	0	0
TRGV9	6983	broad.mit.edu	37	7	38356716	38356716	+	RNA	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:38356716C>T	ENST00000444775.2	-	0	1636																											CTATCCACCTCAAATTTGCCT	0.473000													14	17					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986916	46986916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:46986916C>T	ENST00000306503.5	+	2	1419	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	SOCS5_ENST00000394861.2_Missense_Mutation_p.S416F	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	416	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TACCTCTTCTCTGTGAGCTTC	0.527000													23	59					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150390095	150390095	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:150390095C>G	ENST00000401000.4	+	2	294	c.229C>G	c.(229-231)Ctc>Gtc	p.L77V	RPRD2_ENST00000539519.1_Missense_Mutation_p.L77V|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369067.3_Missense_Mutation_p.L77V|RPRD2_ENST00000369068.4_Missense_Mutation_p.L77V			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	77	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCGTTTGAATCTCTTTTACCT	0.363000													95	114					0	0	1	0	0
HES1	3280	broad.mit.edu	37	3	193854434	193854434	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:193854434G>T	ENST00000232424.3	+	2	373	c.137G>T	c.(136-138)cGa>cTa	p.R46L		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	46					endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GAGAAAAGACGAAGAGCAAGA	0.408000													19	22					1.01871e-10	1.06559e-10	1	1	0
MAGED2	10916	broad.mit.edu	37	X	54841756	54841756	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:54841756G>A	ENST00000375068.1	+	12	1695	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	MAGED2_ENST00000347546.4_Missense_Mutation_p.E470K|MAGED2_ENST00000375058.1_Missense_Mutation_p.E488K|MAGED2_ENST00000218439.4_Missense_Mutation_p.E488K|MAGED2_ENST00000375060.1_Missense_Mutation_p.E403K|MAGED2_ENST00000396224.1_Missense_Mutation_p.E488K|MAGED2_ENST00000375062.4_Missense_Mutation_p.E403K|MAGED2_ENST00000375053.2_Missense_Mutation_p.E488K			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	488								p.E488*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ggctgcagctgaggctgcagc	0.557000													24	6					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28248147	28248147	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:28248147G>A	ENST00000344773.2	+	5	493	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	BRE_ENST00000361704.2_Missense_Mutation_p.E119K|BRE_ENST00000603461.1_3'UTR|BRE_ENST00000379624.1_Missense_Mutation_p.E119K|BRE_ENST00000379632.2_Missense_Mutation_p.E119K|BRE_ENST00000342045.2_Missense_Mutation_p.E119K	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	119	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TGTGGTGAAGGAACTTGTGCA	0.438000													33	62					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178080849	178080849	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:178080849G>C	ENST00000411529.2	+	4	471	c.420G>C	c.(418-420)caG>caC	p.Q140H	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.Q162H|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.Q162H	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	162	RRM 2.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						AAGACAGGCAGAGTGGAAAAA	0.318000													13	13					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143021	55143021	+	Silent	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:55143021C>A	ENST00000396331.1	+	5	498	c.141C>A	c.(139-141)ctC>ctA	p.L47L	LILRB1_ENST00000418536.2_Silent_p.L47L|LILRB1_ENST00000396321.2_Silent_p.L47L|LILRB1_ENST00000448689.1_Silent_p.L47L|LILRB1_ENST00000324602.7_Silent_p.L47L|LILRB1_ENST00000396327.3_Silent_p.L47L|LILRB1_ENST00000396315.1_Silent_p.L47L|LILRB1_ENST00000396332.4_Silent_p.L47L|LILRB1_ENST00000434867.2_Silent_p.L47L|LILRB1_ENST00000396317.1_Silent_p.L47L|LILRB1_ENST00000427581.2_Silent_p.L83L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	47	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTGTGACCCTCAGGTGTCAGG	0.562000										HNSCC(37;0.09)			55	42					9.55421e-19	1.01418e-18	1	1	0
HTT	3064	broad.mit.edu	37	4	3241693	3241693	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:3241693C>G	ENST00000355072.5	+	67	9481	c.9336C>G	c.(9334-9336)ttC>ttG	p.F3112L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3112					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCAGGGCCTTCCAGTCTGTGC	0.577000													5	5					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588464	153588464	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:153588464G>A	ENST00000422373.1	-	22	3947	c.3699C>T	c.(3697-3699)atC>atT	p.I1233I	FLNA_ENST00000360319.4_Silent_p.I1233I|FLNA_ENST00000369850.3_Silent_p.I1233I|FLNA_ENST00000344736.4_Silent_p.I1233I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1233					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			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)					CGCCGTACTTGATGGTGACGG	0.637000													40	4					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607432	53607432	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:53607432G>A	ENST00000425354.2	-	8	1353	c.866C>T	c.(865-867)tCc>tTc	p.S289F	RARG_ENST00000543726.1_Missense_Mutation_p.S267F|RARG_ENST00000338561.5_Missense_Mutation_p.S278F|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.S289F|RARG_ENST00000327550.3_Missense_Mutation_p.S217F	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	289	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CAGCCCGTCGGAGAAGGTCAT	0.622000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	38					0	0	1	0	0
DAZL	1618	broad.mit.edu	37	3	16633639	16633639	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:16633639C>T	ENST00000250863.8	-	10	1099	c.812G>A	c.(811-813)aGc>aAc	p.S271N	DAZL_ENST00000399444.2_Missense_Mutation_p.S251N	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	251					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						CGTTTGTATGCTTCGGTCCAC	0.348000													80	82					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179250	65179250	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:65179250C>T	ENST00000310045.7	-	2	4099	c.2626G>A	c.(2626-2628)Gaa>Aaa	p.E876K	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	866						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTGAGAATTTCAGCTCCTGAA	0.428000													97	84					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100447571	100447571	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:100447571G>A	ENST00000240851.4	+	4	624	c.284G>A	c.(283-285)aGa>aAa	p.R95K	TFG_ENST00000476228.1_Missense_Mutation_p.R95K|TFG_ENST00000418917.2_Missense_Mutation_p.R95K|TFG_ENST00000490574.1_Missense_Mutation_p.R95K	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	95					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GGCCAGCCAAGACCCCTTGAA	0.328000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								47	35					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70573104	70573104	+	Missense_Mutation	SNP	G	G	C	rs148171005		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:70573104G>C	ENST00000302516.5	+	8	1272	c.1061G>C	c.(1060-1062)gGa>gCa	p.G354A		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	354					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCAGAATTTGGAAACCAGTGA	0.468000													59	44					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7840070	7840070	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:7840070G>A	ENST00000380262.3	+	6	1688	c.763G>A	c.(763-765)Gag>Aag	p.E255K	CNTROB_ENST00000563694.1_Missense_Mutation_p.E255K|CNTROB_ENST00000380255.3_Missense_Mutation_p.E255K|CNTROB_ENST00000565740.1_Missense_Mutation_p.E255K	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	255					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGAGCGGACAGAGGTTCTCAG	0.537000													34	26					0	0	1	0	0
KIAA1586	57691	broad.mit.edu	37	6	56915593	56915593	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:56915593C>G	ENST00000370733.4	+	3	334	c.127C>G	c.(127-129)Ctt>Gtt	p.L43V	KIAA1586_ENST00000488682.1_3'UTR|KIAA1586_ENST00000545356.1_Intron	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	43							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAGACCTGTTCTTGAATACAT	0.348000													97	26					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122152513	122152513	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:122152513C>T	ENST00000344337.6	-	12	1421	c.1245G>A	c.(1243-1245)caG>caA	p.Q415Q	KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000609469.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	415	Binding to RAG1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CTTACTTGATCTGTTCAGCTG	0.373000													26	90					0	0	1	0	0
IGKV6D-21	28870	broad.mit.edu	37	2	90060486	90060486	+	RNA	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:90060486C>T	ENST00000436451.2	+	0	110																											GCTCTGGGTTCCAGGTGAGAA	0.428000													31	31					0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95410412	95410412	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:95410412G>C	ENST00000287996.3	-	6	709	c.433C>G	c.(433-435)Cct>Gct	p.P145A		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	145					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CTCGAGAAAGGAATAAACCCA	0.413000													6	24					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47843689	47843689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:47843689C>T	ENST00000378460.2	-	8	1175	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	NUP160_ENST00000530326.1_Missense_Mutation_p.E263K|NUP160_ENST00000528071.1_Missense_Mutation_p.E263K|NUP160_ENST00000528501.1_5'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	377					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CGATTACTCTCAGTGCTCACC	0.353000													8	18					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533733	88533733	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:88533733C>T	ENST00000399271.1	+	4	515	c.395C>T	c.(394-396)aCa>aTa	p.T132I	DSPP_ENST00000282478.7_Missense_Mutation_p.T132I|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	132					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAAAACATCACAGCAAATGGC	0.423000													12	23					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10129478	10129478	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:10129478G>C	ENST00000591589.1	+	3	583	c.394G>C	c.(394-396)Gac>Cac	p.D132H	RDH8_ENST00000171214.1_Missense_Mutation_p.D112H			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	112					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GAATGTCTTTGACACCAACTT	0.552000													52	35					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13229072	13229072	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:13229072C>T	ENST00000197268.8	+	11	1757	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	546						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GTGACGGCTTCAGAGGGTGAG	0.597000													8	38					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16486686	16486686	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:16486686C>T	ENST00000354981.2	-	8	1006	c.849G>A	c.(847-849)ggG>ggA	p.G283G	KIF16B_ENST00000355755.3_Silent_p.G283G|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.G283G	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	283	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAATGACGTTCCCCAGAGTCA	0.512000													35	45					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	A	G	rs121913485		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:1806099A>G	ENST00000340107.4	+	9	1380	c.1124A>G	c.(1123-1125)tAt>tGt	p.Y375C	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000481110.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.Y373C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	373			G -> C (in ACH).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.Y373C(395)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCAGTGTGTATGCAGGCATC	0.682000	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				82	54					0	0	1	0	0
LCAT	3931	broad.mit.edu	37	16	67976268	67976268	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:67976268G>A	ENST00000264005.5	-	5	775	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	249					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CTTCTCACCTGAGGCCAAGAC	0.612000											OREG0023892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	14					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594718	140594718	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:140594718G>A	ENST00000341948.4	+	1	1210	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		341	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			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)			TGATAGATGTGAACGACCATG	0.438000													98	142					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105282822	105282822	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:105282822G>C	ENST00000258538.3	-	4	996	c.869C>G	c.(868-870)tCt>tGt	p.S290C		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	290						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CTGCAGAAGAGATGCAATGAA	0.348000													78	63					0	0	1	0	0
RWDD2B	10069	broad.mit.edu	37	21	30380857	30380857	+	Silent	SNP	A	A	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr21:30380857A>C	ENST00000493196.1	-	2	253	c.153T>G	c.(151-153)ccT>ccG	p.P51P	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	51	RWD.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						CATTCTCACCAGGGAACATAC	0.453000													17	28					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160128840	160128840	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:160128840G>A	ENST00000368081.4	+	5	1045	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	192					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAATGTACAAGAGGTGGTGTT	0.498000													20	29					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111520	64111520	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:64111520G>A	ENST00000356786.5	+	14	1551	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	503					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGTGCTGGAGGAGGCTCCCCA	0.657000													11	36					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44845309	44845309	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr21:44845309G>A	ENST00000270162.6	-	3	383	c.251C>T	c.(250-252)cCa>cTa	p.P84L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	84	Protein kinase.				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			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						TATGATGTGTGGATGGTTCAG	0.368000													10	32					0	0	1	0	0
ADAT1	23536	broad.mit.edu	37	16	75646349	75646349	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:75646349G>A	ENST00000307921.3	-	7	980	c.835C>T	c.(835-837)Cac>Tac	p.H279Y		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	279	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CCCACCTGGTGAAACGCAGCA	0.567000													13	45					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71788914	71788914	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:71788914C>G	ENST00000258104.3	+	23	2472	c.2195C>G	c.(2194-2196)tCt>tGt	p.S732C	DYSF_ENST00000410020.3_Missense_Mutation_p.S750C|DYSF_ENST00000409762.1_Missense_Mutation_p.S749C|DYSF_ENST00000413539.2_Missense_Mutation_p.S763C|DYSF_ENST00000409582.3_Missense_Mutation_p.S749C|DYSF_ENST00000410041.1_Missense_Mutation_p.S750C|DYSF_ENST00000409744.1_Missense_Mutation_p.S719C|DYSF_ENST00000409651.1_Missense_Mutation_p.S764C|DYSF_ENST00000429174.2_Missense_Mutation_p.S732C|DYSF_ENST00000409366.1_Missense_Mutation_p.S733C|DYSF_ENST00000394120.2_Missense_Mutation_p.S733C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	732						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			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						GAGACACCCTCTGCCACCCAC	0.622000													12	39					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102521171	102521171	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:102521171G>A	ENST00000376131.4	-	3	422	c.327C>T	c.(325-327)ttC>ttT	p.F109F	FGF14_ENST00000468052.1_5'UTR|FGF14_ENST00000376143.4_Silent_p.F104F	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	104					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTATGAGGTTGAAGAGTGCTG	0.398000													112	25					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	101					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934320	113934320	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:113934320G>C	ENST00000335953.4	+	2	678	c.298G>C	c.(298-300)Gat>Cat	p.D100H	ZBTB16_ENST00000392996.2_Missense_Mutation_p.D100H	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	100					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GGAGGACCTGGATGACCTGCT	0.537000													18	32					0	0	1	0	0
LAT	27040	broad.mit.edu	37	16	28998180	28998180	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:28998180C>T	ENST00000395456.2	+	8	781	c.459C>T	c.(457-459)ctC>ctT	p.L153L	RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395461.3_Silent_p.L189L|LAT_ENST00000354453.4_Silent_p.L172L|LAT_ENST00000454369.2_Silent_p.L152L|LAT_ENST00000360872.5_Silent_p.L182L|LAT_ENST00000564277.1_Silent_p.L152L|LAT_ENST00000566177.1_Silent_p.L181L	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	182					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTCCTGCACTCAGCACCCCTG	0.547000													33	21					0	0	1	0	0
CD70	970	broad.mit.edu	37	19	6586263	6586263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:6586263G>A	ENST00000245903.3	-	3	499	c.350C>T	c.(349-351)tCc>tTc	p.S117F	CD70_ENST00000423145.3_Missense_Mutation_p.S117F	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	117					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						GGCCGTCGTGGAGGAGCAGAT	0.617000													6	25					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11852391	11852391	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:11852391G>A	ENST00000376592.1	-	9	1704	c.1576C>T	c.(1576-1578)Ctg>Ttg	p.L526L	MTHFR_ENST00000376590.3_Silent_p.L526L|MTHFR_ENST00000376585.1_Silent_p.L567L|MTHFR_ENST00000376583.3_Silent_p.L567L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	526					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|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)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	AGCACTTGCAGAAGTGCTTCC	0.572000													33	53					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105177032	105177032	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:105177032C>G	ENST00000257700.2	+	3	340	c.109C>G	c.(109-111)Ctt>Gtt	p.L37V		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	37					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTACAGTTCTTATTGGAAG	0.323000													17	39					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17533513	17533513	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:17533513T>A	ENST00000005226.7	-	16	1348	c.1349A>T	c.(1348-1350)tAc>tTc	p.Y450F	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	331					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTTCTCTTTGTAAAGCTTTTG	0.463000													41	41					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57085522	57085522	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:57085522G>A	ENST00000436936.1	+	24	3720	c.3495G>A	c.(3493-3495)ctG>ctA	p.L1165L	NLRC5_ENST00000262510.6_Silent_p.L1165L|NLRC5_ENST00000539144.1_Silent_p.L1165L|NLRC5_ENST00000308149.7_Silent_p.L1165L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1165					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCCCTCAGCTGAGCCTGCTGC	0.522000													185	136					0	0	1	0	0
TMEM87A	25963	broad.mit.edu	37	15	42564299	42564299	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:42564299C>G	ENST00000389834.4	-	2	431	c.167G>C	c.(166-168)gGa>gCa	p.G56A	TMEM87A_ENST00000448392.1_Intron|TMEM87A_ENST00000307216.6_Missense_Mutation_p.G56A|TMEM87A_ENST00000568432.1_5'UTR	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	56						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GAGGATCTTTCCAAAACTAAA	0.289000													25	27					0	0	1	0	0
PGPEP1	54858	broad.mit.edu	37	19	18468199	18468199	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:18468199G>C	ENST00000269919.6	+	4	306	c.211G>C	c.(211-213)Gtg>Ctg	p.V71L	PGPEP1_ENST00000604499.2_Missense_Mutation_p.V71L|PGPEP1_ENST00000597431.2_Intron|PGPEP1_ENST00000595066.1_Missense_Mutation_p.V71L|PGPEP1_ENST00000252813.5_5'UTR	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I								cysteine-type peptidase activity										GCAGCTGGTGGTGCATGTGGG	0.602000													12	12					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791183	110791183	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:110791183G>A	ENST00000327908.3	+	4	1493	c.729G>A	c.(727-729)ctG>ctA	p.L243L	LRIT3_ENST00000409621.2_Silent_p.L243L|LRIT3_ENST00000379920.3_Silent_p.L381L|LRIT3_ENST00000594814.1_Silent_p.L426L			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	381	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCACAACTCTGAGCACAAGCA	0.453000													14	33					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75406925	75406925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:75406925C>T	ENST00000297784.5	+	16	1888	c.1348C>T	c.(1348-1350)Ctt>Ttt	p.L450F	TMC1_ENST00000340019.3_Missense_Mutation_p.L450F|TMC1_ENST00000396237.3_Missense_Mutation_p.L450F	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	450					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTTTGCTCTTCTTTTAGGCAA	0.378000													29	106					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171700635	171700635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:171700635C>T	ENST00000358196.3	+	7	1269	c.719C>T	c.(718-720)tCa>tTa	p.S240L	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	240					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			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)	GTTGGATGGTCAAGTAAAGAT	0.373000													7	35					0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44104937	44104937	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:44104937G>A	ENST00000297283.3	-	1	249	c.192C>T	c.(190-192)atC>atT	p.I64I	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	64					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						AGAGGGTGCGGATGGCCCGCT	0.632000													19	40					0	0	1	0	0
ELOVL2	54898	broad.mit.edu	37	6	11005635	11005635	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:11005635G>A	ENST00000354666.3	-	3	308	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	75					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AGAGAAGTGTGATTCCAAGAT	0.423000													33	10					0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49308346	49308346	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:49308346G>A	ENST00000266984.5	+	3	687	c.460G>A	c.(460-462)Gag>Aag	p.E154K	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.E154K			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	154										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						CAAGGAGTTTGAGACAGAAAG	0.532000													21	31					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21344683	21344683	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:21344683G>A	ENST00000215739.8	+	8	1019	c.660G>A	c.(658-660)caG>caA	p.Q220Q	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.Q201Q	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	220					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGGTGGCCCAGAGTGGCGAGA	0.577000													22	52					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40670378	40670378	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr21:40670378G>C	ENST00000342449.3	-	5	407	c.329C>G	c.(328-330)tCt>tGt	p.S110C	BRWD1_ENST00000333229.2_Missense_Mutation_p.S110C|BRWD1_ENST00000380800.3_Missense_Mutation_p.S110C|BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000341322.4_Missense_Mutation_p.S110C	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACGTAGCAAAGACTGCCTTCC	0.368000													33	109					0	0	1	0	0
RARRES1	5918	broad.mit.edu	37	3	158422575	158422575	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:158422575C>G	ENST00000479756.1	-	4	703	c.677G>C	c.(676-678)aGa>aCa	p.R226T	RARRES1_ENST00000237696.5_Intron	NM_002888.2	NP_002879.2	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	0					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	TCAGGTTTTTCTTACCCACTG	0.408000													46	32					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78135224	78135224	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:78135224C>A	ENST00000264914.4	-	6	1704	c.1168G>T	c.(1168-1170)Gag>Tag	p.E390*	ARSB_ENST00000396151.3_Nonsense_Mutation_p.E390*|ARSB_ENST00000565165.1_Nonsense_Mutation_p.E390*	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	390					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TGCAGCAGCTCAATTCTGGGG	0.413000													20	35					2.27731e-05	2.32215e-05	1	1	0
PAPSS1	9061	broad.mit.edu	37	4	108552816	108552816	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:108552816C>T	ENST00000265174.4	-	11	1979	c.1707G>A	c.(1705-1707)aaG>aaA	p.K569K		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	569					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCATACGCTTCTTTTTCTTGT	0.423000													46	36					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117564398	117564398	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:117564398G>A	ENST00000256652.4	+	7	2279	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	CD101_ENST00000369470.1_Missense_Mutation_p.E741K	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	741	Ig-like C2-type 6.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACTGGGGATGAGTTTCACAC	0.413000													39	51					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655227	38655227	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:38655227G>C	ENST00000222345.6	+	15	4398	c.3889G>C	c.(3889-3891)Gag>Cag	p.E1297Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1297					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTGGAGCCAGAGCAAGACCC	0.622000													45	17					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769202	57769202	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:57769202C>T	ENST00000371030.2	+	1	3128	c.3128C>T	c.(3127-3129)tCa>tTa	p.S1043L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1043						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTGCCCATCTCAGCACCAGGG	0.627000													9	4					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8409808	8409808	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:8409808C>T	ENST00000360416.3	-	27	3353		c.e27-1		MYH10_ENST00000269243.4_Splice_Site|MYH10_ENST00000379980.4_Splice_Site|MYH10_ENST00000396239.1_Splice_Site	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle						actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTAAGCGTTCTTTAAGGTAA	0.433000													21	56					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2110747	2110747	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:2110747G>A	ENST00000355272.6	-	27	3340	c.3134C>T	c.(3133-3135)tCc>tTc	p.S1045F	AP3D1_ENST00000356926.4_Missense_Mutation_p.S942F|AP3D1_ENST00000345016.5_Missense_Mutation_p.S983F|AP3D1_ENST00000350812.6_Missense_Mutation_p.S814F	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	983					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCGTGGACGGAGGAGCCCTG	0.677000													9	15					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24546431	24546431	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:24546431C>T	ENST00000397016.2	+	16	1679	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	CPNE6_ENST00000537691.1_Silent_p.I511I|CPNE6_ENST00000216775.2_Silent_p.I456I	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	456	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCACTGCTATCGTGCGTGCCT	0.617000													15	31					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133953703	133953703	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:133953703C>G	ENST00000220616.4	+	26	5189	c.5149C>G	c.(5149-5151)Cta>Gta	p.L1717V	TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Missense_Mutation_p.L1660V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1717				L -> A (in Ref. 13; AA sequence).	hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGAGCCAATCTAACCGATGC	0.488000													12	80					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53432503	53432503	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:53432503C>T	ENST00000549216.1	-	2	218	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	ZNF816_ENST00000434371.2_Missense_Mutation_p.E119K|ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF321P_ENST00000391777.3_Missense_Mutation_p.E119K	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	119	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CTTTCCTCTTCTTGCCACTGA	0.413000													48	168					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16208825	16208825	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:16208825C>T	ENST00000399408.2	+	24	3487	c.3312C>T	c.(3310-3312)ttC>ttT	p.F1104F	ABCC1_ENST00000345148.5_Silent_p.F1094F|ABCC1_ENST00000346370.5_Silent_p.F1038F|ABCC1_ENST00000349029.5_Silent_p.F979F|ABCC1_ENST00000399410.3_Silent_p.F1094F|ABCC1_ENST00000351154.5_Silent_p.F1035F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1094	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCAAGATGTTCATGGGCTCCC	0.577000													8	25					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1267918	1267918	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:1267918G>A	ENST00000348261.5	+	32	5571		c.e32-1		CACNA1H_ENST00000358590.4_Splice_Site|CACNA1H_ENST00000565831.1_Splice_Site	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTCCCCGCAGAGTGCAGTGA	0.697000													6	4					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237872193	237872193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:237872193C>T	ENST00000366574.2	+	69	10254	c.9937C>T	c.(9937-9939)Cag>Tag	p.Q3313*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q3297*|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q3311*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3313					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.Q3311*(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)			AGTGAAACCTCAGCTCTTGAA	0.403000													4	15					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189297	38189297	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:38189297G>C	ENST00000355202.4	-	5	2330	c.1735C>G	c.(1735-1737)Cat>Gat	p.H579D	ZNF607_ENST00000395835.3_Missense_Mutation_p.H578D|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GTTCGGTCATGATATATGAGG	0.398000													29	17					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141458069	141458069	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:141458069C>G	ENST00000389484.3	-	41	7520	c.6549G>C	c.(6547-6549)ctG>ctC	p.L2183L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2183	EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCATGCCTCAGGCAAGTAA	0.393000										TSP Lung(27;0.18)			4	102					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220310180	220310180	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:220310180G>A	ENST00000366922.1	+	16	2091	c.1760G>A	c.(1759-1761)gGa>gAa	p.G587E	IARS2_ENST00000302637.5_Missense_Mutation_p.G659E			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	659					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TTTACCCTTGGAGAAAAGGGA	0.343000													13	24					0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20055052	20055052	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:20055052C>T	ENST00000276390.2	+	1	175	c.135C>T	c.(133-135)ctC>ctT	p.L45L		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	45					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		AGCCTCGCCTCAGTGAGTATC	0.642000													4	3					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172558426	172558426	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:172558426C>G	ENST00000367723.4	+	17	2762	c.2638C>G	c.(2638-2640)Ctt>Gtt	p.L880V	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000263688.3_Missense_Mutation_p.L729V|SUCO_ENST00000608151.1_Missense_Mutation_p.L881V	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		TTCTCAAACTCTTTCTCAGTC	0.393000													46	72					0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26975743	26975743	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:26975743C>T	ENST00000381527.3	+	12	1754	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	417					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			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)		GTGGACTTATCATGACCTCAG	0.438000													15	29					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81094891	81094891	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:81094891G>C	ENST00000378611.4	-	3	1178	c.1063C>G	c.(1063-1065)Ctc>Gtc	p.L355V	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Missense_Mutation_p.L355V	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	355										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GCCTTTGGGAGAACATGCTTT	0.502000													12	80					0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48548477	48548477	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:48548477G>T	ENST00000427954.2	+	12	1422	c.1379G>T	c.(1378-1380)aGa>aTa	p.R460I	ACSF2_ENST00000300441.4_Missense_Mutation_p.R435I|ACSF2_ENST00000541920.1_Missense_Mutation_p.R275I|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000502667.1_Missense_Mutation_p.R422I|ACSF2_ENST00000504392.1_Missense_Mutation_p.R392I			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	435					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGCGTGGGCAGAATTATGCCT	0.582000													19	24					3.8784e-16	4.10292e-16	1	1	0
ZNF445	353274	broad.mit.edu	37	3	44496902	44496902	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:44496902T>A	ENST00000425708.2	-	2	481	c.140A>T	c.(139-141)aAc>aTc	p.N47I	ZNF445_ENST00000396077.2_Missense_Mutation_p.N47I			P59923	ZN445_HUMAN	zinc finger protein 445	47					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GCCAGGGCGGTTGAGAGTCTG	0.587000													16	73					0	0	1	0	0
BMP8B	656	broad.mit.edu	37	1	40228835	40228835	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:40228835A>C	ENST00000372827.3	-	6	1363	c.988T>G	c.(988-990)Tgt>Ggt	p.C330G	PPIE_ENST00000356511.2_Intron|PPIE_ENST00000372830.1_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	330					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCCCCTCACAGTAATAGGCC	0.632000													19	85					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77407407	77407407	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:77407407C>G	ENST00000560626.2	-	7	4807	c.4332G>C	c.(4330-4332)caG>caC	p.Q1444H	PEAK1_ENST00000312493.4_Missense_Mutation_p.Q1444H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1444	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GATTCTCTTTCTGGGATGATG	0.493000													61	49					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128841364	128841364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:128841364C>T	ENST00000280333.6	+	21	2183	c.2074C>T	c.(2074-2076)Cag>Tag	p.Q692*		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	692					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TAGAAAATTTCAGCATTTTAA	0.289000													5	16					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151239818	151239818	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:151239818G>T	ENST00000368884.3	+	10	1213	c.1133G>T	c.(1132-1134)tGa>tTa	p.*378L	PSMD4_ENST00000368881.4_Nonstop_Mutation_p.*381L	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	0					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|DNA repair|G1/S transition of mitotic cell cycle|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|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	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)			GACAAGAAGTGAGACTGGAGG	0.507000													22	34					3.08376e-08	3.18633e-08	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42173411	42173411	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:42173411G>C	ENST00000320955.6	-	13	2706	c.2479C>G	c.(2479-2481)Cca>Gca	p.P827A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	827					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTTTCTCCTGGAGGGCTCAGG	0.657000													7	38					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79035150	79035150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:79035150C>G	ENST00000446378.2	+	2	10593	c.10562C>G	c.(10561-10563)tCt>tGt	p.S3521C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3521	Amphipathic helix H1.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTCCAATTTCTGCCACTGAC	0.403000													3	2					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132399690	132399690	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:132399690C>T	ENST00000321867.4	+	17	1787	c.1436C>T	c.(1435-1437)tCg>tTg	p.S479L		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	479					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCCAGCCCCTCGCCCCCTGCC	0.667000													3	7					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4116163	4116163	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:4116163G>A	ENST00000465828.1	-	10	1325	c.1040C>T	c.(1039-1041)tCa>tTa	p.S347L	C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000413766.2_Missense_Mutation_p.S210L|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.S347L|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000361538.2_Missense_Mutation_p.S347L|ECI2_ENST00000380118.3_Missense_Mutation_p.S377L			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	377					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						GCATTCATCTGATAGCCATCT	0.413000													35	12					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145008167	145008167	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:145008167G>A	ENST00000322810.4	-	12	1842	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L	PLEC_ENST00000345136.3_Splice_Site_p.S421L|PLEC_ENST00000527096.1_Splice_Site_p.S444L|PLEC_ENST00000357649.2_Splice_Site_p.S425L|PLEC_ENST00000354958.2_Splice_Site_p.S399L|PLEC_ENST00000356346.3_Splice_Site_p.S407L|PLEC_ENST00000354589.3_Splice_Site_p.S421L|PLEC_ENST00000398774.2_Splice_Site_p.S389L|PLEC_ENST00000436759.2_Splice_Site_p.S448L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	558	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCCCTCACCGACTGCAGCAG	0.701000													4	4					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86017661	86017661	+	Missense_Mutation	SNP	C	C	G	rs145994931		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:86017661C>G	ENST00000359452.4	+	6	693	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	215					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						AAACACCACTCTGCCAGCAAG	0.562000													6	26					0	0	1	0	0
METTL2A	339175	broad.mit.edu	37	17	60525101	60525101	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:60525101G>A	ENST00000311506.5	+	8	992	c.956G>A	c.(955-957)gGa>gAa	p.G319E		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	319							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AGAGGTGATGGAACCAGAGTT	0.418000													113	154					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11958017	11958017	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:11958017G>A	ENST00000339865.5	+	16	2596	c.1833G>A	c.(1831-1833)acG>acA	p.T611T	USP47_ENST00000399455.2_Silent_p.T699T|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Silent_p.T679T	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	699					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGTTGGAGACGAGAAAGCCTG	0.373000													33	40					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302379	123302379	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:123302379C>T	ENST00000458573.2	+	2	896	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	247						cytoskeleton	actin binding|tropomyosin binding										GACGTTCAGTCTGGCCAACAC	0.493000													10	18					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10541723	10541723	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:10541723C>G	ENST00000583535.1	-	27	3453	c.3366G>C	c.(3364-3366)gaG>gaC	p.E1122D	MYH3_ENST00000226209.7_Missense_Mutation_p.E1122D	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1122					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCGCCTCTATCTCCTCTTCCA	0.652000													13	9					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10916622	10916622	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:10916622G>A	ENST00000314646.5	+	13	1688	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K	DNM2_ENST00000408974.4_Silent_p.K508K|DNM2_ENST00000585892.1_Silent_p.K508K|DNM2_ENST00000355667.6_Silent_p.K508K|DNM2_ENST00000389253.4_Silent_p.K508K|DNM2_ENST00000359692.6_Silent_p.K508K			P50570	DYN2_HUMAN	dynamin 2	508					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGCTGAACAAGAAGAGAGCCA	0.597000			"""F, N, Splice, Mis, O"""		ETP ALL								16	25					0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23745923	23745923	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:23745923G>C	ENST00000357460.5	-	2	678	c.514C>G	c.(514-516)Ctt>Gtt	p.L172V	HOMEZ_ENST00000431326.2_Missense_Mutation_p.L174V|HOMEZ_ENST00000561013.1_Missense_Mutation_p.L174V	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	172	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGCTTGCTAAGAGTTGGAGGA	0.542000													27	92					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	76055517	76055517	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:76055517G>A	ENST00000377636.3	-	1	733	c.387C>T	c.(385-387)ttC>ttT	p.F129F	TBC1D4_ENST00000377625.2_Silent_p.F129F|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Silent_p.F129F	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	129	PID 1.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGTTGTGGATGAAGCGCGAGA	0.657000													104	41					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182823291	182823291	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:182823291C>G	ENST00000367549.3	+	6	714	c.604C>G	c.(604-606)Caa>Gaa	p.Q202E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	202	DRBM 2.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TAAGTACACCCAAGTGGGTCC	0.363000													39	40					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147127911	147127911	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:147127911C>T	ENST00000282928.4	+	1	741	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	4					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCTCCTGGACGCCGGCCCCC	0.726000													4	4					0	0	1	0	0
HOXC8	3224	broad.mit.edu	37	12	54403342	54403342	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:54403342G>A	ENST00000040584.4	+	1	511	c.274G>A	c.(274-276)Gag>Aag	p.E92K	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	92						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						CTATGGCTACGAGGCGCTCCC	0.582000													91	287					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5399035	5399035	+	Silent	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:5399035G>T	ENST00000399537.4	-	15	5175	c.4827C>A	c.(4825-4827)atC>atA	p.I1609I	TNRC18_ENST00000430969.1_Silent_p.I1609I			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1609							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCACCTGACTGATGAAGTCCG	0.547000													70	63					7.97268e-31	8.52126e-31	1	1	0
SCRIB	23513	broad.mit.edu	37	8	144896053	144896053	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:144896053G>A	ENST00000356994.2	-	3	297	c.291C>T	c.(289-291)atC>atT	p.I97I	SCRIB_ENST00000320476.3_Silent_p.I97I|SCRIB_ENST00000377533.3_Silent_p.I16I	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	97	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGCTCTCCGGGATCTCAGGGA	0.647000													18	19					0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59808941	59808941	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:59808941G>C	ENST00000288228.5	+	8	1071	c.884G>C	c.(883-885)aGa>aCa	p.R295T		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	295										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GATGGTCAGAGAACAAGGCAA	0.463000													11	12					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17824575	17824575	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:17824575C>T	ENST00000325083.8	+	21	3747	c.3308C>T	c.(3307-3309)tCg>tTg	p.S1103L	PCM1_ENST00000524226.1_Missense_Mutation_p.S1104L|PCM1_ENST00000519253.1_Missense_Mutation_p.S1103L	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1103					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTAGTGCATCGCACCCTCCT	0.398000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								8	5					0	0	1	0	0
CLUAP1	23059	broad.mit.edu	37	16	3554728	3554728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:3554728G>T	ENST00000571025.1	+	2	81	c.31G>T	c.(31-33)Gag>Tag	p.E11*	LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000341633.5_Nonsense_Mutation_p.E11*|CLUAP1_ENST00000576634.1_Nonsense_Mutation_p.E11*|CLUAP1_ENST00000417763.2_5'UTR			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	11						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AGATTTCACAGAGATGATGAG	0.378000													35	31					3.33393e-15	3.52293e-15	1	1	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273397	26273397	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:26273397C>G	ENST00000377733.2	+	1	254	c.194C>G	c.(193-195)tCc>tGc	p.S65C		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						ATTATGAACTCCTTCGTCAAC	0.567000													85	37					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47730912	47730912	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:47730912C>T	ENST00000254480.5	-	13	1347	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	410					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCATCCTGCTCATCTGCAAAA	0.393000													36	27					0	0	1	0	0
RPP25L	138716	broad.mit.edu	37	9	34610887	34610887	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:34610887G>A	ENST00000297613.4	-	2	687	c.407C>T	c.(406-408)cCa>cTa	p.P136L	RPP25L_ENST00000378959.4_Missense_Mutation_p.P136L	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN	ribonuclease P/MRP 25kDa subunit-like	136							nucleic acid binding										GGGTGCTCCTGGGGGTTGGTA	0.657000													10	32					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53992678	53992678	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:53992678C>A	ENST00000263634.3	-	2	166	c.32G>T	c.(31-33)tGc>tTc	p.C11F	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.C49F|ASB3_ENST00000406625.2_Missense_Mutation_p.C46F|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		46					intracellular signal transduction												AACTGTAGAGCACGTGTCCGC	0.433000													5	85					1	1	1	1	0
PPM1N	147699	broad.mit.edu	37	19	46002175	46002175	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:46002175G>A	ENST00000324688.4	+	1	311	c.211G>A	c.(211-213)Gag>Aag	p.E71K	PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000451287.2_Missense_Mutation_p.E149K|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000456399.2_Intron			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	149	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						GAGCGCCGACGAGCGCCTGCG	0.716000													5	4					0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41808097	41808097	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:41808097C>T	ENST00000379480.4	-	7	1017	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	MTRF1_ENST00000379477.1_Missense_Mutation_p.R306Q|MTRF1_ENST00000430347.2_Missense_Mutation_p.R319Q	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	306					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TCCTTTGGCTCGAAATGTATC	0.433000													22	55					0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168683488	168683488	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:168683488G>C	ENST00000367817.3	-	2	491	c.402C>G	c.(400-402)cgC>cgG	p.R134R		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	134	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TCTTGCTGTAGCGACAACAGT	0.567000													16	22					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285578	16285578	+	Silent	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:16285578C>A	ENST00000302182.3	+	2	749	c.357C>A	c.(355-357)ctC>ctA	p.L119L	UBB_ENST00000395839.1_Silent_p.L119L|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.L119L|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	119	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGCAGAGGCTCATCTTTGCAG	0.552000													27	78					3.73988e-18	3.96538e-18	1	1	0
OR52N5	390075	broad.mit.edu	37	11	5799507	5799507	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:5799507C>G	ENST00000317093.2	-	1	390	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E120*(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACCCCAGACTCCACACCTGTG	0.483000													14	18					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158603709	158603709	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:158603709G>C	ENST00000424310.2	-	5	911	c.552C>G	c.(550-552)ctC>ctG	p.L184L	RNF145_ENST00000521606.2_Silent_p.L201L|RNF145_ENST00000274542.2_Silent_p.L212L|RNF145_ENST00000519865.1_Silent_p.L184L|RNF145_ENST00000518802.1_Silent_p.L214L|RNF145_ENST00000520638.1_Silent_p.L198L	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	184						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAAGAAAATAGAGAACTTCCA	0.388000													11	21					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501147	195501147	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:195501147C>A	ENST00000463781.3	-	4	13432	c.12973G>T	c.(12973-12975)Gcc>Tcc	p.A4325S	MUC4_ENST00000475231.1_Missense_Mutation_p.A4325S|MUC4_ENST00000346145.4_Missense_Mutation_p.A89S|MUC4_ENST00000349607.4_Missense_Mutation_p.A38S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1082					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGTCCCCGGCGCCTGCCCCA	0.622000													4	37					1	1	1	1	0
CPNE2	221184	broad.mit.edu	37	16	57155090	57155090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:57155090G>A	ENST00000535318.2	+	9	1128	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	CPNE2_ENST00000565874.1_Missense_Mutation_p.R256Q|CPNE2_ENST00000290776.8_Missense_Mutation_p.R256Q|CPNE2_ENST00000537605.1_Missense_Mutation_p.R154Q			Q96FN4	CPNE2_HUMAN	copine II	256										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TGTGAGGCTCGAGACAGCGTC	0.612000													12	22					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	96743782	96743782	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:96743782C>G	ENST00000376705.2	+	1	690	c.666C>G	c.(664-666)atC>atG	p.I222M		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	222						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGCCGGCCATCATGGAGAAGA	0.647000													9	4					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66617712	66617712	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:66617712C>T	ENST00000393960.1	-	19	2978	c.2697G>A	c.(2695-2697)caG>caA	p.Q899Q	PC_ENST00000529047.1_Silent_p.Q19Q|PC_ENST00000393958.2_Silent_p.Q899Q|PC_ENST00000393955.2_Silent_p.Q899Q	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	899					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCCCAGCATCTGGTTGGCCT	0.632000													20	20					0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52627197	52627197	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:52627197C>G	ENST00000331817.5	+	1	300	c.117C>G	c.(115-117)ctC>ctG	p.L39L		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	39	Head.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GCAGCAGCCTCTACGGCCTCG	0.751000													3	13					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128064710	128064710	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:128064710G>A	ENST00000470056.1	+	3	794	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	GAPVD1_ENST00000297933.6_Missense_Mutation_p.E212K|GAPVD1_ENST00000495955.1_Missense_Mutation_p.E212K|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E212K|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E212K|GAPVD1_ENST00000394084.1_Missense_Mutation_p.E212K|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E212K|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E212K|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E212K			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	212	Ras-GAP.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGTTGAAGATGAAGATCACCT	0.408000													23	49					0	0	1	0	0
NR2F6	2063	broad.mit.edu	37	19	17351553	17351553	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:17351553G>A	ENST00000291442.3	-	2	1019	c.300C>T	c.(298-300)atC>atT	p.I100I	AC010646.3_ENST00000594059.1_5'UTR	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	100					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						GGTGCTGGTCGATCTGGCAGT	0.627000													25	52					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150886890	150886890	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:150886890G>A	ENST00000261800.5	-	22	12354	c.12342C>T	c.(12340-12342)ctC>ctT	p.L4114L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4114					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGGTTGGTTGAGGTTGTTGC	0.572000													45	62					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126206331	126206331	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:126206331G>A	ENST00000368357.3	+	9	1078	c.726G>A	c.(724-726)gtG>gtA	p.V242V	NCOA7_ENST00000392477.2_Silent_p.V242V|NCOA7_ENST00000229634.9_Silent_p.V138V	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	242					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TTATGATAGTGACTCCTAACA	0.448000													94	34					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71835934	71835934	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:71835934G>C	ENST00000377245.4	+	5	682	c.474G>C	c.(472-474)agG>agC	p.R158S	TJP2_ENST00000539225.1_Missense_Mutation_p.R189S|TJP2_ENST00000348208.4_Missense_Mutation_p.R158S|TJP2_ENST00000265384.7_Missense_Mutation_p.R158S|TJP2_ENST00000535702.1_Missense_Mutation_p.R162S|TJP2_ENST00000453658.2_Missense_Mutation_p.R135S	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	158					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACAGCGAGAGGAGCCGGCTGA	0.672000													3	11					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27094313	27094313	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:27094313G>A	ENST00000324856.7	+	11	3392	c.3021G>A	c.(3019-3021)aaG>aaA	p.K1007K	ARID1A_ENST00000374152.2_Silent_p.K624K|ARID1A_ENST00000457599.2_Silent_p.K1007K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1007					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAATGAGAAGATCACCAAGT	0.478000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	38					0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253827	32253827	+	Missense_Mutation	SNP	G	G	C	rs148141061		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr21:32253827G>C	ENST00000332378.4	-	1	47	c.17C>G	c.(16-18)tCc>tGc	p.S6C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	6						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ATTTCTTGTGGAGCAGTTGAA	0.522000													15	42					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216348756	216348756	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:216348756G>A	ENST00000366943.2	-	21	4851	c.4465C>T	c.(4465-4467)Cca>Tca	p.P1489S	USH2A_ENST00000307340.3_Missense_Mutation_p.P1489S|USH2A_ENST00000366942.3_Missense_Mutation_p.P1489S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1489					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTTCAGGTGGAAACCACCTA	0.433000										HNSCC(13;0.011)			16	32					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7888249	7888249	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:7888249C>T	ENST00000332175.8	+	3	1379	c.342C>T	c.(340-342)ctC>ctT	p.L114L	PTPRM_ENST00000400060.4_Silent_p.L114L|PTPRM_ENST00000580170.1_Silent_p.L114L|PTPRM_ENST00000400053.4_Silent_p.L52L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	114	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CGGGGTTACTCAATGTCTACG	0.473000													17	61					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38875828	38875828	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:38875828G>C	ENST00000359357.3	+	62	9048	c.8794G>C	c.(8794-8796)Gat>Cat	p.D2932H	DNAH8_ENST00000449981.2_Missense_Mutation_p.D3149H|DNAH8_ENST00000441566.1_Missense_Mutation_p.D2896H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCTACCTTTGATAATTTGTA	0.368000													21	5					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270156	53270156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:53270156G>A	ENST00000338230.3	-	3	1120	c.853C>T	c.(853-855)Cag>Tag	p.Q285*		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTTGATTGCTGATTAAAAGCT	0.368000													87	45					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	304506	304506	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:304506G>A	ENST00000399932.3	+	3	545	c.94G>A	c.(94-96)Gag>Aag	p.E32K	ITFG3_ENST00000301679.2_Missense_Mutation_p.E32K|ITFG3_ENST00000600536.1_Missense_Mutation_p.E32K|ITFG3_ENST00000450082.2_Missense_Mutation_p.E32K|ITFG3_ENST00000301678.3_Missense_Mutation_p.E32K|ITFG3_ENST00000442458.2_Missense_Mutation_p.E32K	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	32						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ATCAAAAAATGAGGATAACGT	0.493000											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	50	127					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112321061	112321061	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:112321061G>C	ENST00000315987.2	-	6	1994	c.1515C>G	c.(1513-1515)atC>atG	p.I505M	KCND3_ENST00000302127.4_Intron|KCND3_ENST00000369697.1_Intron	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	505						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTTATACCTTGATGGTGGAGG	0.418000													26	40					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189931136	189931136	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:189931136G>A	ENST00000374866.3	-	23	1817	c.1543C>T	c.(1543-1545)Cca>Tca	p.P515S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	515					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACTGGCCCTGGAGGACCAACT	0.468000													87	80					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	107013196	107013196	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:107013196G>C	ENST00000393603.2	-	8	1043	c.772C>G	c.(772-774)Caa>Gaa	p.Q258E	COG5_ENST00000347053.3_Missense_Mutation_p.Q258E|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.Q258E	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	258					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GTTCCGACTTGAGTTGGATTC	0.348000													14	28					0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18309555	18309555	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:18309555C>T	ENST00000222256.4	-	4	630	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	RAB3A_ENST00000464076.3_Missense_Mutation_p.R56Q	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	151					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCTAGCTGCCGGCCACGTTC	0.562000													15	20					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82377719	82377719	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:82377719G>C	ENST00000436139.2	-	4	650	c.524C>G	c.(523-525)tCc>tGc	p.S175C	RASGEF1B_ENST00000264400.2_Intron|RASGEF1B_ENST00000514889.1_Intron|RASGEF1B_ENST00000509081.1_Intron|RASGEF1B_ENST00000335927.7_Intron			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	0					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GGAAGCAGTGGAGATTAGGAT	0.483000													25	36					0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127271	150127271	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:150127271C>T	ENST00000361875.3	+	1	1150	c.134C>T	c.(133-135)tCc>tTc	p.S45F	TSC22D2_ENST00000361136.2_Missense_Mutation_p.S45F	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2								sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAGGACGTCTCCTCCGAGATT	0.602000													6	21					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626152	154626152	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:154626152A>G	ENST00000260010.6	+	1	3501	c.2093A>G	c.(2092-2094)aAa>aGa	p.K698R		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	698	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AAGAGCCACAAAACTGTCTTT	0.413000													20	83					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19349330	19349330	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:19349330C>G	ENST00000263208.5	-	16	2156	c.1900G>C	c.(1900-1902)Gag>Cag	p.E634Q	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Missense_Mutation_p.E590Q|HIRA_ENST00000546308.1_Missense_Mutation_p.E590Q	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	634	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GTCTCTACCTCAAGCTCAAGT	0.562000													24	73					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095259	81095259	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:81095259G>C	ENST00000378611.4	-	3	810	c.695C>G	c.(694-696)tCt>tGt	p.S232C	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Missense_Mutation_p.S232C	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	232										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CTGCAAGAAAGAGTTCTTACT	0.483000													28	85					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50774701	50774701	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:50774701G>A	ENST00000440075.2	+	25	3116	c.3069G>A	c.(3067-3069)gcG>gcA	p.A1023A	MYH14_ENST00000598205.1_Silent_p.A990A|MYH14_ENST00000596571.1_Silent_p.A982A|MYH14_ENST00000262269.8_Silent_p.A1023A|MYH14_ENST00000425460.1_Silent_p.A990A|MYH14_ENST00000376970.2_Silent_p.A1015A|MYH14_ENST00000601313.1_Silent_p.A1023A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	982					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGAGGGTGCGCGGCAGAAGC	0.557000													9	8					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67645864	67645864	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:67645864G>C	ENST00000264010.4	+	4	1236	c.792G>C	c.(790-792)aaG>aaC	p.K264N	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	264					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTGTAAAGAAGACATTCCAGT	0.373000													48	43					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17950473	17950473	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:17950473C>T	ENST00000458235.1	-	10	1354		c.e10-1		JAK3_ENST00000527670.1_Splice_Site|JAK3_ENST00000534444.1_Splice_Site|JAK3_ENST00000526008.1_Splice_Site	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3						B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CAAGGGGGTTCTGCAAAGAAG	0.517000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	3					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117307016	117307016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:117307016G>C	ENST00000003084.6	+	27	4429	c.4297G>C	c.(4297-4299)Gag>Cag	p.E1433Q	CFTR_ENST00000454343.1_Missense_Mutation_p.E1372Q	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1433	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACTGCTGAACGAGAGGAGCCT	0.542000									Cystic Fibrosis				7	30					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123179197	123179197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:123179197C>T	ENST00000371160.1	+	8	936	c.646C>T	c.(646-648)Cga>Tga	p.R216*	STAG2_ENST00000371144.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R147*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R216*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R216*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	216					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGAGCATTTCGACATACAAG	0.343000													7	87					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110783911	110783911	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:110783911C>G	ENST00000395494.2	+	18	3329	c.2766C>G	c.(2764-2766)gtC>gtG	p.V922V	ATP2A2_ENST00000539276.2_Silent_p.V949V|ATP2A2_ENST00000308664.6_Silent_p.V949V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	949					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCCTCTATGTCGAACCCTTGC	0.597000													54	58					0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	721669	721669	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:721669G>A	ENST00000533256.1	+	11	1248	c.873G>A	c.(871-873)aaG>aaA	p.K291K	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.K291K|EPS8L2_ENST00000530636.1_Silent_p.K291K|EPS8L2_ENST00000526198.1_Silent_p.K307K			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	291						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGGGAAGAAGAAGGGCAAGA	0.672000													15	10					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6127746	6127746	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:6127746G>C	ENST00000261405.5	-	28	5092	c.4838C>G	c.(4837-4839)tCt>tGt	p.S1613C		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1613	VWFA 2.		S -> P (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GATCTCATCAGAGGCAGGATT	0.607000													11	49					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284089	152284089	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:152284089C>T	ENST00000368799.1	-	3	3308	c.3273G>A	c.(3271-3273)caG>caA	p.Q1091Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1091	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCCCATCCTGTCCATGGC	0.572000									Ichthyosis				180	281					0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50595285	50595285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:50595285C>G	ENST00000380877.3	-	4	735	c.312G>C	c.(310-312)aaG>aaC	p.K104N	GABPB1_ENST00000396464.3_Missense_Mutation_p.K104N|GABPB1_ENST00000220429.8_Missense_Mutation_p.K104N|GABPB1_ENST00000543881.1_Missense_Mutation_p.K28N|GABPB1_ENST00000560825.1_Missense_Mutation_p.K104N|GABPB1_ENST00000429662.2_Missense_Mutation_p.K104N|GABPB1_ENST00000359031.4_Missense_Mutation_p.K104N	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	104					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						GAGCTGTCATCTTTAACATGT	0.338000													11	71					0	0	1	0	0
CLN5	1203	broad.mit.edu	37	13	77575057	77575057	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:77575057G>A	ENST00000377453.3	+	4	2469	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K		NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	344					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AATAACATATGAAGAAATCCC	0.289000													5	62					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044972	119044972	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:119044972G>A	ENST00000334464.5	-	5	1511	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	424	PDZ.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTGTTGATGTGATTTTCACAC	0.348000													9	29					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51746753	51746753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:51746753G>A	ENST00000395052.3	+	3	949	c.715G>A	c.(715-717)Gag>Aag	p.E239K	GRM2_ENST00000442933.2_Missense_Mutation_p.E239K|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	239					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGCCACCTCGGAGAAAGTGGG	0.637000													13	20					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168096931	168096931	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:168096931C>G	ENST00000519560.1	-	35	4612	c.4193G>C	c.(4192-4194)gGa>gCa	p.G1398A	SLIT3_ENST00000404867.3_Missense_Mutation_p.G1398A|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1405A	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1398	EGF-like 8.				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			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)			CAAGTCCCCTCCATAGCCCTC	0.547000													31	37					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16382932	16382932	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:16382932G>C	ENST00000375679.4	+	19	2056	c.1945G>C	c.(1945-1947)Gag>Cag	p.E649Q	CLCNKB_ENST00000375667.3_Missense_Mutation_p.E479Q	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CAACCTCTTTGAGCTGTTGAA	0.617000											OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	106					0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863212	64863212	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:64863212G>C	ENST00000313349.3	-	2	1091	c.794C>G	c.(793-795)tCa>tGa	p.S265*		NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	265					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GGCTGTCCCTGATGAGGAAGT	0.522000													24	27					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128716922	128716922	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:128716922G>C	ENST00000296464.4	+	3	576		c.e3-1		HSPA4L_ENST00000505726.1_Splice_Site|HSPA4L_ENST00000439123.2_Splice_Site|HSPA4L_ENST00000508776.1_Splice_Site	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ACTGCCAACAGATAGTCACGA	0.368000													27	24					0	0	1	0	0
EMC3	55831	broad.mit.edu	37	3	10028277	10028277	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:10028277G>A	ENST00000245046.2	-	1	527	c.69C>T	c.(67-69)atC>atT	p.I23I	EMC3_ENST00000429759.1_Silent_p.I23I	NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3																		CGAAGAAAGTGATGATAACGA	0.552000													22	45					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75498952	75498952	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:75498952G>T	ENST00000360639.2	+	2	883	c.563G>T	c.(562-564)gGc>gTc	p.G188V	C15orf39_ENST00000394987.4_Missense_Mutation_p.G188V|C15orf39_ENST00000567617.1_Missense_Mutation_p.G188V			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	188										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACTCTGGATGGCACCTTCTTG	0.617000													28	21					2.48779e-11	2.60813e-11	1	1	0
AARS	16	broad.mit.edu	37	16	70292973	70292973	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:70292973G>C	ENST00000261772.8	-	14	2045	c.1902C>G	c.(1900-1902)ctC>ctG	p.L634L	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	634					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	AGTCAAATCTGAGGCGGTCAG	0.522000													26	74					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377284	113377284	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:113377284C>G	ENST00000316407.4	-	7	3655	c.3245G>C	c.(3244-3246)aGa>aCa	p.R1082T	KIAA2018_ENST00000478658.1_Missense_Mutation_p.R1082T|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1082					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTCGGCCTGTCTACCGTTGAT	0.453000													56	41					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202531962	202531962	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:202531962C>T	ENST00000608999.1	+	20	2717	c.2564C>T	c.(2563-2565)tCa>tTa	p.S855L	PPP1R12B_ENST00000391959.3_Missense_Mutation_p.S81L|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.S81L|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S855L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GACCGGGCTTCAGCAAGAGCC	0.483000													29	102					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167812239	167812239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:167812239C>T	ENST00000265293.4	+	3	755	c.253C>T	c.(253-255)Cga>Tga	p.R85*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.R85*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	85	WW 2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGAGGATCCTCGAGTACAATG	0.527000													6	31					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48534633	48534633	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:48534633C>G	ENST00000340802.6	+	16	1757	c.1533C>G	c.(1531-1533)ttC>ttG	p.F511L	PFKM_ENST00000547587.1_Missense_Mutation_p.F440L|PFKM_ENST00000359794.5_Missense_Mutation_p.F440L|PFKM_ENST00000312352.7_Missense_Mutation_p.F440L|PFKM_ENST00000551804.1_Missense_Mutation_p.F409L|PFKM_ENST00000395233.2_Missense_Mutation_p.F409L	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	440					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGATGGTTTCGAGGGCCTGG	0.567000													33	38					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13223524	13223524	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:13223524C>T	ENST00000592062.1	-	8	1435	c.865G>A	c.(865-867)Gag>Aag	p.E289K	TRMT1_ENST00000357720.4_Missense_Mutation_p.E289K|TRMT1_ENST00000437766.1_Missense_Mutation_p.E289K|TRMT1_ENST00000221504.8_Missense_Mutation_p.E289K			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	289							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CTCACCATCTCGTGGCAGGCC	0.647000													14	47					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030380	95030380	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:95030380G>C	ENST00000557004.1	+	2	982	c.561G>C	c.(559-561)aaG>aaC	p.K187N	SERPINA4_ENST00000298841.5_Missense_Mutation_p.K187N|SERPINA4_ENST00000555095.1_Missense_Mutation_p.K187N|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	187					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACCACGTCAAGAAGGAAACTC	0.463000													43	93					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25333867	25333867	+	RNA	SNP	A	A	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:25333867A>G	ENST00000546682.1	+	0	586				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CTCCTTCGGAAGTTGTTGGAT	0.502000													30	20					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25343313	25343313	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:25343313C>G	ENST00000330560.3	+	11	1881	c.1404C>G	c.(1402-1404)ctC>ctG	p.L468L	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.L453L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	468					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTGCCGTTCTCAGTTCTCCTA	0.308000													72	84					0	0	1	0	0
NOP16	51491	broad.mit.edu	37	5	175812329	175812329	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:175812329C>G	ENST00000389158.5	-	4	722		c.e4-1		NOP16_ENST00000509257.1_Splice_Site|NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Splice_Site			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein							nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GCCTCCAGGTCTGGAGTGATG	0.527000													47	52					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12640040	12640040	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:12640040G>A	ENST00000228862.2	-	5	1244	c.613C>T	c.(613-615)Cat>Tat	p.H205Y	DUSP16_ENST00000545864.1_5'UTR|RP11-253I19.3_ENST00000544086.1_lincRNA|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	205					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CGCAGGAAATGAGACTCGGGG	0.423000													56	42					0	0	1	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74569327	74569327	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:74569327C>T	ENST00000225276.5	-	4	799	c.480G>A	c.(478-480)ctG>ctA	p.L160L	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	160					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GGGACCCATTCAGAATGCCTC	0.617000													7	9					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8930121	8930121	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:8930121G>A	ENST00000256707.3	-	14	1691	c.1510C>T	c.(1510-1512)Ctt>Ttt	p.L504F	KIDINS220_ENST00000427284.1_Missense_Mutation_p.L504F|KIDINS220_ENST00000418530.1_Missense_Mutation_p.L462F|KIDINS220_ENST00000473731.1_Missense_Mutation_p.L504F|KIDINS220_ENST00000319688.5_Missense_Mutation_p.L505F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	504	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCAGGGTAAGAAACACTATG	0.433000													20	67					0	0	1	0	0
TLDC2	140711	broad.mit.edu	37	20	35506446	35506446	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:35506446G>C	ENST00000217320.3	+	2	222	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	TLDC2_ENST00000602922.1_Missense_Mutation_p.E60Q	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		GAGTGCCTCAGAGATTCGGCA	0.607000													20	33					0	0	1	0	0
HMGB1	3146	broad.mit.edu	37	13	31035517	31035517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:31035517C>A	ENST00000405805.1	-	5	1565	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000399494.1_Nonsense_Mutation_p.E209*|HMGB1_ENST00000341423.5_Nonsense_Mutation_p.E209*|HMGB1_ENST00000339872.4_Nonsense_Mutation_p.E209*			P09429	HMGB1_HUMAN	high mobility group box 1	209	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		tcatcttcttcttcatcttca	0.388000													14	11					2.98393e-07	3.07976e-07	1	1	0
PALLD	23022	broad.mit.edu	37	4	169602523	169602523	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:169602523C>T	ENST00000261509.6	+	4	1339	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	PALLD_ENST00000333488.4_Silent_p.F253F|PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000505667.1_Silent_p.F376F|PALLD_ENST00000335742.7_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	376					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTTTAGCTTTCAAATCAAGAG	0.373000									Pancreatic Cancer, Familial Clustering of				34	26					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:26084094T>C	ENST00000478176.1	-	0	363					NR_003678.1																						aaaacataCATTCTTAGAATA	0.299000													3	20					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869716	22869716	+	Missense_Mutation	SNP	C	C	T	rs149065270		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:22869716C>T	ENST00000302097.3	-	2	491	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	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)		AGGATATTGACGGAAGTGGCC	0.468000													23	72					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56316355	56316355	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:56316355G>A	ENST00000309964.4	-	15	1501	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	CLOCK_ENST00000513440.1_Silent_p.L417L|CLOCK_ENST00000381322.1_Silent_p.L417L	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	417					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ATGCTTCCTTGAGACTGACTG	0.443000													17	53					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178081416	178081416	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:178081416G>A	ENST00000411529.2	+	6	641	c.590G>A	c.(589-591)gGa>gAa	p.G197E	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.G219E|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G219E	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	219	RRM 2.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						CGTGGAGGTGGATCTGGCAAT	0.463000													67	51					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929202	35929202	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:35929202C>A	ENST00000374694.1	-	1	1160	c.1156G>T	c.(1156-1158)Gtg>Ttg	p.V386L		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	386					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TCGTAGCGCACGTGCTGCTCC	0.761000													13	19					9.31168e-06	9.54729e-06	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40360985	40360985	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:40360985G>C	ENST00000221347.6	-	33	15430	c.15423C>G	c.(15421-15423)ctC>ctG	p.L5141L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5141	Cys-rich.|TIL 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGAGGCCGGAGAGAGCCGCAC	0.637000													7	34					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62636569	62636569	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:62636569C>G	ENST00000383710.4	-	5	1505	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	CADPS_ENST00000357948.3_Missense_Mutation_p.E386Q|CADPS_ENST00000490353.2_Missense_Mutation_p.E386Q|CADPS_ENST00000283269.9_Missense_Mutation_p.E386Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	386					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			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)		AGCTGGTTCTCACTCTCCTCG	0.517000													14	74					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22048228	22048228	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:22048228C>G	ENST00000308271.9	-	13	2326	c.1678G>C	c.(1678-1680)Gaa>Caa	p.E560Q	USP48_ENST00000529637.1_Missense_Mutation_p.E559Q|USP48_ENST00000374732.3_Missense_Mutation_p.E99Q|USP48_ENST00000400301.1_Missense_Mutation_p.E560Q	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	560					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			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)		CGACAACGTTCTACTACACAT	0.368000													24	31					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964646	32964646	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:32964646C>T	ENST00000321639.5	+	10	2678	c.2350C>T	c.(2350-2352)Ccc>Tcc	p.P784S		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	784						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCTGCCGCTGCCCACCGGCTT	0.701000													17	23					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36360780	36360780	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:36360780C>T	ENST00000373204.4	+	8	1143	c.930C>T	c.(928-930)ttC>ttT	p.F310F	AGO1_ENST00000373206.1_Silent_p.F235F	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CACAGTATTTCAAGCAGAAAT	0.498000													38	29					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574279	41574279	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:41574279G>A	ENST00000263253.7	+	31	7783	c.6564G>A	c.(6562-6564)atG>atA	p.M2188I	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2188	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GACAGCAAATGATGCAACAGC	0.557000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				12	44					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180965	142180965	+	RNA	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:142180965G>A	ENST00000390368.2	-	0	51																											GATGCTGCATGACGGAGGGGT	0.577000													39	22					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105927441	105927441	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:105927441C>T	ENST00000357060.3	-	22	2861	c.2746G>A	c.(2746-2748)Gaa>Aaa	p.E916K	WDR96_ENST00000428666.1_Missense_Mutation_p.E917K|WDR96_ENST00000278064.2_Missense_Mutation_p.E847K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	916										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCAGCTCTTCAACCGTGCGC	0.348000													42	41					0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41622708	41622708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:41622708C>A	ENST00000319349.5	-	3	386	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	ETV4_ENST00000545089.1_Nonsense_Mutation_p.E30*|ETV4_ENST00000591713.1_Nonsense_Mutation_p.E30*|ETV4_ENST00000545954.1_5'UTR|ETV4_ENST00000538265.1_5'UTR|ETV4_ENST00000393664.2_Nonsense_Mutation_p.E30*|RP11-392O1.4_ENST00000588996.1_RNA	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	30					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		ATCAGCGCTTCGCGCAAGCTC	0.647000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								6	11					5.18039e-06	5.31732e-06	1	1	0
SRFBP1	153443	broad.mit.edu	37	5	121311079	121311079	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:121311079G>A	ENST00000339397.4	+	3	267	c.195G>A	c.(193-195)atG>atA	p.M65I		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TCCATGCCATGAAGGTAAGGA	0.403000													34	51					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21448564	21448564	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:21448564G>A	ENST00000307378.6	-	11	1958	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S411F|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S281F|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S281F|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S413F	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	413					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AACAACTGAAGAATTTTCACA	0.308000													54	60					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26749849	26749849	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:26749849C>T	ENST00000381340.3	-	31	4637	c.4221G>A	c.(4219-4221)gtG>gtA	p.V1407V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1407					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		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)					TCACCACCCTCACTATGTCGT	0.468000													11	102					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69088046	69088046	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:69088046C>T	ENST00000543976.1	-	7	2197	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.E648K|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	648					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCTTCAAGTTCATCCATGTCT	0.368000													14	71					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238289736	238289736	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:238289736C>G	ENST00000295550.4	-	5	2171	c.1719G>C	c.(1717-1719)aaG>aaC	p.K573N	COL6A3_ENST00000347401.3_Missense_Mutation_p.K372N|COL6A3_ENST00000346358.4_Missense_Mutation_p.K573N|COL6A3_ENST00000392004.3_Missense_Mutation_p.K367N|COL6A3_ENST00000353578.4_Missense_Mutation_p.K367N|COL6A3_ENST00000472056.1_Missense_Mutation_p.K166N|COL6A3_ENST00000392003.2_Missense_Mutation_p.K166N|COL6A3_ENST00000409809.1_Missense_Mutation_p.K367N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	573	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCTGCTTCTCTTCAGCTCCT	0.567000													27	41					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17992862	17992862	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:17992862G>C	ENST00000222248.3	+	9	1499	c.1152G>C	c.(1150-1152)gtG>gtC	p.V384V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	384					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGAAACTCGTGATTATCTCCA	0.582000													23	29					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	86988997	86988997	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:86988997G>A	ENST00000395169.3	-	10	1520	c.800C>T	c.(799-801)gCg>gTg	p.A267V	MAPK10_ENST00000359221.3_Missense_Mutation_p.A305V|MAPK10_ENST00000395160.3_Missense_Mutation_p.A160V|MAPK10_ENST00000395157.3_Missense_Mutation_p.A160V|MAPK10_ENST00000361569.2_Missense_Mutation_p.A305V|MAPK10_ENST00000395161.2_Missense_Mutation_p.A305V|MAPK10_ENST00000395166.1_Missense_Mutation_p.A267V|MAPK10_ENST00000449047.2_Missense_Mutation_p.A160V	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	305	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GGTGAGTCCCGCATACTTGGG	0.463000													12	37					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4699874	4699874	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:4699874C>T	ENST00000354582.6	+	13	1413	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Silent_p.L355L|ITPR1_ENST00000456211.2_Silent_p.L340L|ITPR1_ENST00000357086.4_Silent_p.L355L|ITPR1_ENST00000302640.8_Silent_p.L340L|ITPR1_ENST00000443694.2_Silent_p.L340L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	355	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGTATACTCCCTGGTCTCTGT	0.502000													18	36					0	0	1	0	0
LYPLA2	11313	broad.mit.edu	37	1	24120416	24120416	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:24120416G>C	ENST00000374514.3	+	6	598	c.291G>C	c.(289-291)gaG>gaC	p.E97D	LYPLA2_ENST00000374503.3_Missense_Mutation_p.E97D|LYPLA2_ENST00000374501.1_Missense_Mutation_p.E30D|LYPLA2_ENST00000400061.1_Missense_Mutation_p.E97D|LYPLA2_ENST00000374505.2_Missense_Mutation_p.E97D|LYPLA2_ENST00000374502.3_Missense_Mutation_p.E97D|LYPLA2_ENST00000495365.1_Intron	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	97					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AGGCAGCAGAGAACAGTAAGA	0.602000													6	19					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520440	131520440	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:131520440G>C	ENST00000423981.1	+	2	905	c.795G>C	c.(793-795)ctG>ctC	p.L265L	AMER3_ENST00000321420.4_Silent_p.L265L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CTCTGGAGCTGAACGAGGGCC	0.672000													27	14					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96305578	96305578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:96305578C>T	ENST00000277165.6	+	11	2178	c.1984C>T	c.(1984-1986)Ctt>Ttt	p.L662F	FAM120A_ENST00000340893.4_Missense_Mutation_p.L662F|FAM120A_ENST00000333936.5_Missense_Mutation_p.L690F	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	662						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGTTGAAGCTCTTGCCTTCAG	0.517000													45	49					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47348848	47348848	+	RNA	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:47348848C>G	ENST00000505841.1	-	0	615					NR_002788.2																						ACTGACCTGTCCAACTGGATG	0.493000													37	101					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65251082	65251082	+	Silent	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:65251082C>A	ENST00000389722.3	-	18	3938	c.3885G>T	c.(3883-3885)ctG>ctT	p.L1295L	SPTB_ENST00000389721.5_Silent_p.L1295L|SPTB_ENST00000389720.3_Silent_p.L1295L|SPTB_ENST00000542895.1_Silent_p.L1295L|SPTB_ENST00000556626.1_Silent_p.L1295L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1295					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGAGATGTCAGCAGCTTGT	0.502000													79	69					2.26256e-52	2.43219e-52	1	1	0
HMX2	3167	broad.mit.edu	37	10	124909368	124909368	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:124909368C>G	ENST00000339992.3	+	2	808	c.551C>G	c.(550-552)tCc>tGc	p.S184C		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	184					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TGCCTCGCCTCCAGCCTGCAG	0.632000													8	9					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211481153	211481153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:211481153G>A	ENST00000233072.5	+	21	2771	c.2575G>A	c.(2575-2577)Gat>Aat	p.D859N	CPS1_ENST00000451903.2_Missense_Mutation_p.D408N|CPS1_ENST00000430249.2_Missense_Mutation_p.D865N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	859					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCAGGCCATTGATGACAACAT	0.358000													20	66					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749185	22749185	+	RNA	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:22749185C>T	ENST00000508166.1	+	0	655				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGTATCCCTCACTTTGGGAC	0.433000													18	85					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39776541	39776541	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:39776541G>A	ENST00000564288.1	+	26	3916	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K	MACF1_ENST00000317713.7_Missense_Mutation_p.E1052K|MACF1_ENST00000539005.1_Missense_Mutation_p.E1052K|MACF1_ENST00000545844.1_Missense_Mutation_p.E1052K|MACF1_ENST00000567887.1_Missense_Mutation_p.E1084K|MACF1_ENST00000361689.2_Missense_Mutation_p.E1052K|MACF1_ENST00000372915.3_Missense_Mutation_p.E1052K|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1052					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTACATTTCAGAGTTGAAGAA	0.473000													14	13					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791367	110791367	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:110791367G>C	ENST00000327908.3	+	4	1677	c.913G>C	c.(913-915)Gaa>Caa	p.E305Q	LRIT3_ENST00000409621.2_Missense_Mutation_p.E305Q|LRIT3_ENST00000379920.3_Missense_Mutation_p.E443Q|LRIT3_ENST00000594814.1_Missense_Mutation_p.E488Q			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	443						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGCCGCAATAGAAAACCTCAG	0.443000													14	49					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92818553	92818553	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:92818553C>G	ENST00000440868.1	-	8	1405	c.1355G>C	c.(1354-1356)cGa>cCa	p.R452P	HEPACAM2_ENST00000394468.2_3'UTR|HEPACAM2_ENST00000453812.2_3'UTR|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000341723.4_3'UTR			A8MVW5	HECA2_HUMAN	HEPACAM family member 2	0						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GAATTTCACTCGAATGTACTG	0.328000													11	30					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22256299	22256299	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:22256299C>T	ENST00000594947.1	+	3	303	c.159C>T	c.(157-159)atC>atT	p.I53I	ZNF257_ENST00000600162.1_Silent_p.I53I	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CAGACCTGATCACCTGTCTGG	0.423000													43	130					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22398124	22398124	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:22398124G>A	ENST00000263160.3	+	11	1756	c.1319G>A	c.(1318-1320)aGa>aAa	p.R440K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	440					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATCGCTCCAAGATATGCCAGT	0.383000													50	49					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832623	150832623	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:150832623G>A	ENST00000370357.4	+	11	1119	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	292						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGAGCCTGAGGTGAATCC	0.507000													48	3					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29435879	29435879	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:29435879G>C	ENST00000343067.4	+	18	2472	c.2345G>C	c.(2344-2346)gGa>gCa	p.G782A	EPB41_ENST00000347529.3_Missense_Mutation_p.G693A|EPB41_ENST00000349460.4_Missense_Mutation_p.G559A|EPB41_ENST00000460378.1_3'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.G749A|EPB41_ENST00000373800.3_Intron|EPB41_ENST00000373798.1_Missense_Mutation_p.G782A|EPB41_ENST00000398863.2_Missense_Mutation_p.G685A	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	782	Carboxyl-terminal (CTD).				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTGGACCCAGGAGTCTTGCTG	0.498000													13	14					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49427001	49427001	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr6:49427001A>G	ENST00000274813.3	-	2	306	c.179T>C	c.(178-180)aTa>aCa	p.I60T		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	60					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGCCATATTAGGTCTTC	0.483000													11	23					0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38126661	38126661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:38126661G>A	ENST00000351218.2	-	6	1338	c.781C>T	c.(781-783)Caa>Taa	p.Q261*	ZFP30_ENST00000514101.2_Nonsense_Mutation_p.Q261*|ZFP30_ENST00000392144.1_Nonsense_Mutation_p.Q261*|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAATCCTTTGATGGAGATTA	0.423000													62	26					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473277	52473277	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:52473277G>A	ENST00000219746.9	-	7	1875	c.1591C>T	c.(1591-1593)Cgg>Tgg	p.R531W	TOX3_ENST00000407228.3_Missense_Mutation_p.R526W	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	531	Gln-rich.				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.R531W(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GAGTGCTGCCGAGGAGAAGGC	0.602000													5	5					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33016908	33016908	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:33016908G>C	ENST00000357505.6	-	7	1825	c.1721C>G	c.(1720-1722)tCt>tGt	p.S574C	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.S589C|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.S574C	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTTGTATAAAGATGCAGAGCA	0.318000													10	18					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558426	140558426	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:140558426G>C	ENST00000239444.2	+	1	1056	c.811G>C	c.(811-813)Gac>Cac	p.D271H		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		271	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			CACGGATGTAGACACAGGAGT	0.438000													73	273					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14284383	14284383	+	RNA	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:14284383G>A	ENST00000310358.7	+	0	2657							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ACCCTGCCCAGAGACTGTGCA	0.557000													6	24					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100283850	100283850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:100283850C>T	ENST00000275732.5	-	8	2110	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	301										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCCATTTCTTCATCCTCATCG	0.627000													17	15					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43803856	43803856	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:43803856G>C	ENST00000372470.3	+	2	208	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	MPL_ENST00000413998.2_Missense_Mutation_p.E56Q	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	56					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGATGAGGAAGAGGCAGCGCC	0.562000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						12	36					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356266	42356266	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:42356266C>G	ENST00000554171.1	+	5	2870	c.438C>G	c.(436-438)gtC>gtG	p.V146V	LRFN5_ENST00000298119.4_Silent_p.V146V|LRFN5_ENST00000554120.1_Silent_p.V146V			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	146						integral to membrane				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)		TTGATGATGTCTTCGCCCTTG	0.388000										HNSCC(30;0.082)			23	46					0	0	1	0	0
PCGF3	10336	broad.mit.edu	37	4	728727	728727	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:728727G>C	ENST00000362003.5	+	5	512	c.117G>C	c.(115-117)agG>agC	p.R39S	PCGF3_ENST00000505655.2_Missense_Mutation_p.R39S|PCGF3_ENST00000521023.2_Missense_Mutation_p.R5S|PCGF3_ENST00000470161.2_Missense_Mutation_p.R39S	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CAGTCTGCAGGAGCTGCCTGG	0.607000													3	8					0	0	1	0	0
GSTO2	119391	broad.mit.edu	37	10	106059004	106059004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:106059004C>T	ENST00000369707.2	+	5	724	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	GSTO2_ENST00000450629.2_Nonsense_Mutation_p.Q198*|GSTO2_ENST00000338595.2_Nonsense_Mutation_p.Q232*|GSTO2_ENST00000429569.2_3'UTR	NM_001191014.1	NP_001177943.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2		GST C-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TCTCTATTTTCAGAACAACCC	0.517000													47	46					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67099825	67099825	+	Silent	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:67099825C>A	ENST00000237247.6	+	5	300	c.162C>A	c.(160-162)gcC>gcA	p.A54A	SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371037.4_Intron			Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	51					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GGCTCAGAGCCCTCTCGTTAA	0.512000													4	12					0.150653	0.15114	1	1	0
HSP90B1	7184	broad.mit.edu	37	12	104340666	104340666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:104340666G>A	ENST00000299767.5	+	16	2391	c.2209G>A	c.(2209-2211)Gat>Aat	p.D737N		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	737					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			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	AGCATATGGAGATAGAATAGA	0.423000													31	64					0	0	1	0	0
TACO1	51204	broad.mit.edu	37	17	61685197	61685197	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:61685197G>A	ENST00000258975.6	+	5	941	c.729G>A	c.(727-729)agG>agA	p.R243R		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	243					regulation of translation	mitochondrion				breast(2)|endometrium(1)|lung(1)	4						ACCAAGTGAGGAAGAAGCTGG	0.542000													57	91					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28098656	28098656	+	Silent	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:28098656C>A	ENST00000263181.6	-	10	1613	c.1323G>T	c.(1321-1323)ctG>ctT	p.L441L		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	441					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTTCCAACTTCAGATATTCTT	0.303000													27	106					2.12542e-12	2.23073e-12	1	1	0
YES1	7525	broad.mit.edu	37	18	743319	743319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:743319C>T	ENST00000584307.1	-	7	991	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	YES1_ENST00000577961.1_Missense_Mutation_p.R279Q|YES1_ENST00000314574.4_Missense_Mutation_p.R274Q			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	274					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CAAAGATTCTCGAGGGATTTC	0.433000													45	56					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545479	186545479	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:186545479G>A	ENST00000431808.1	-	14	1655	c.1092C>T	c.(1090-1092)aaC>aaT	p.N364N	SORBS2_ENST00000284776.7_Silent_p.N364N|SORBS2_ENST00000355634.5_Silent_p.N464N|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.N268N			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	364						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATTTCTGCGTTTTGCCGGG	0.517000													36	41					0	0	1	0	0
HES1	3280	broad.mit.edu	37	3	193854451	193854451	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:193854451G>A	ENST00000232424.3	+	2	390	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	52	Helix-loop-helix motif.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		AAGAATAAATGAAAGTCTGAG	0.388000													21	17					0	0	1	0	0
METTL2A	339175	broad.mit.edu	37	17	60526027	60526027	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:60526027G>A	ENST00000311506.5	+	9	1110	c.1074G>A	c.(1072-1074)ctG>ctA	p.L358L		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	358							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GAAAGCAACTGACAATGTACC	0.537000													64	123					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63916006	63916006	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:63916006C>T	ENST00000443617.2	-	73	13616	c.13529G>A	c.(13528-13530)cGa>cAa	p.R4510Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4510	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTCCACGCTCGGGAAGGCAG	0.488000													43	60					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67683403	67683403	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:67683403C>T	ENST00000334583.6	+	20	2128	c.1800C>T	c.(1798-1800)gtC>gtT	p.V600V	RLTPR_ENST00000545661.1_Silent_p.V564V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	600	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GTGCCAGCGTCCTACTCCGGG	0.627000													30	27					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101606734	101606734	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:101606734G>C	ENST00000335681.5	+	18	2129	c.1844G>C	c.(1843-1845)aGa>aCa	p.R615T	NPAS2_ENST00000542504.1_Missense_Mutation_p.R680T	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	615					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGCCAATGAGAAGCTCACAG	0.567000													23	70					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65265333	65265333	+	RNA	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:65265333G>A	ENST00000534336.1	+	0	101					NR_002819.2																						CAGCTCGCCTGAAGGCAGGTC	0.627000													47	36					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41003504	41003504	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:41003504T>A	ENST00000352632.3	+	7	863	c.777T>A	c.(775-777)gaT>gaA	p.D259E	SPTBN4_ENST00000598249.1_Missense_Mutation_p.D259E|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D259E|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D259E|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D259E			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	259	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCTGCTGGATCCTGAAGGTG	0.612000													39	24					0	0	1	0	0
HOXC8	3224	broad.mit.edu	37	12	54403170	54403170	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:54403170G>C	ENST00000040584.4	+	1	339	c.102G>C	c.(100-102)agG>agC	p.R34S	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	34						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						GCGTGGGCAGGAGCCATGCGC	0.637000													73	225					0	0	1	0	0
CYB5B	80777	broad.mit.edu	37	16	69481132	69481132	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:69481132C>T	ENST00000512062.1	+	2	413	c.242C>T	c.(241-243)tCt>tTt	p.S81F	CYB5B_ENST00000307892.8_Missense_Mutation_p.S85F|CYB5B_ENST00000515314.1_Missense_Mutation_p.S81F|CYB5B_ENST00000561792.1_Missense_Mutation_p.S81F			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	81	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				GGACACTCTTCTGATGCCAGA	0.433000													10	38					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346322	89346322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:89346322C>A	ENST00000301030.4	-	9	7088	c.6628G>T	c.(6628-6630)Gag>Tag	p.E2210*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.E2210*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2210	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTTTGGCTCCCCTGAGGGC	0.697000													9	5					2.74318e-10	2.86298e-10	1	1	0
FLG	2312	broad.mit.edu	37	1	152284295	152284295	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:152284295C>T	ENST00000368799.1	-	3	3102	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1023	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGCCTGTTCATGGGATGAC	0.577000									Ichthyosis				244	293					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949827	198949827	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:198949827C>T	ENST00000428675.1	+	2	1984	c.1586C>T	c.(1585-1587)tCa>tTa	p.S529L	PLCL1_ENST00000437704.2_Missense_Mutation_p.S431L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	529	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.S431L(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)	TACCTCCCATCACCAGAAAAA	0.408000													9	38					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44983591	44983591	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:44983591G>T	ENST00000221327.4	-	4	524	c.243C>A	c.(241-243)ttC>ttA	p.F81L	ZNF180_ENST00000592529.1_Missense_Mutation_p.F54L|ZNF180_ENST00000587047.1_Intron|ZNF180_ENST00000586637.1_Missense_Mutation_p.H91N|ZNF180_ENST00000391956.4_Missense_Mutation_p.F56L	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CCTCCCGTGTGAAGTCCACAG	0.493000													59	36					5.19286e-32	5.56293e-32	1	1	0
ZNF43	7594	broad.mit.edu	37	19	21992344	21992344	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:21992344C>A	ENST00000594012.1	-	7	991	c.477G>T	c.(475-477)aaG>aaT	p.K159N	ZNF43_ENST00000354959.4_Missense_Mutation_p.K165N|ZNF43_ENST00000595461.1_Missense_Mutation_p.K159N|ZNF43_ENST00000598381.1_Missense_Mutation_p.K159N	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGGCTTATCTTATGTCTGT	0.313000													15	21					6.72482e-11	7.04217e-11	1	1	0
BRDT	676	broad.mit.edu	37	1	92470738	92470738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:92470738G>A	ENST00000370389.2	+	18	3362	c.2438G>A	c.(2437-2439)gGa>gAa	p.G813E	BRDT_ENST00000399546.2_Missense_Mutation_p.G886E|BRDT_ENST00000362005.3_Missense_Mutation_p.G886E|BRDT_ENST00000394530.3_Missense_Mutation_p.G840E|BRDT_ENST00000402388.1_Missense_Mutation_p.G886E	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	886					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAGTGCTCTGGAGAAGAGCAG	0.373000													69	41					0	0	1	0	0
CTSF	8722	broad.mit.edu	37	11	66334977	66334977	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:66334977C>T	ENST00000310325.5	-	3	578	c.469G>A	c.(469-471)Gac>Aac	p.D157N	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	157					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTCTGTTGTCTGGATGGTTT	0.557000													31	37					0	0	1	0	0
SOX12	6666	broad.mit.edu	37	20	307448	307448	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr20:307448G>A	ENST00000342665.2	+	1	1210	c.880G>A	c.(880-882)Gag>Aag	p.E294K	RP5-1103G7.4_ENST00000442637.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.E294K	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	294					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTGCACCCCCGAGGTTACCGA	0.697000													18	22					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73649902	73649902	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:73649902G>A	ENST00000377687.4	+	4	1788	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N	KLF5_ENST00000539231.1_Missense_Mutation_p.D327N	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	418					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CGCGCGATCGGATGAGCTGAC	0.602000													19	53					0	0	1	0	0
FIGF	2277	broad.mit.edu	37	X	15376161	15376161	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:15376161G>C	ENST00000297904.3	-	3	885	c.456C>G	c.(454-456)atC>atG	p.I152M		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	152					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGTTCATACAGATAAGGCTCT	0.488000													72	5					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15809793	15809793	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:15809793G>A	ENST00000375910.3	+	5	416	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	131	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GGCTAACCCCGTCTCCCTCAC	0.607000													17	30					0	0	1	0	0
RBX1	9978	broad.mit.edu	37	22	41347432	41347432	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:41347432G>C	ENST00000216225.8	+	1	70	c.30G>C	c.(28-30)ccG>ccC	p.P10P	XPNPEP3_ENST00000544094.1_Intron	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	10					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						TGGATACCCCGAGCGGCACCA	0.637000													3	31					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33415118	33415118	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:33415118G>C	ENST00000484457.1	+	8	595	c.504G>C	c.(502-504)caG>caC	p.Q168H	FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000538181.1_Missense_Mutation_p.Q84H|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	168					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GGTGTGATCAGATCACGAAGG	0.527000													40	30					0	0	1	0	0
FEZ2	9637	broad.mit.edu	37	2	36787942	36787942	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:36787942C>T	ENST00000379245.4	-	6	1018	c.970G>A	c.(970-972)Ggt>Agt	p.G324S	FEZ2_ENST00000487919.1_5'UTR|FEZ2_ENST00000405912.3_Intron|FEZ2_ENST00000305852.7_Intron	NM_001042548.1	NP_001036013.1	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	301					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				TTCTCTCCACCTGAATTTCCA	0.438000													37	72					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25480014	25480014	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:25480014C>G	ENST00000381884.4	-	7	2347	c.2162G>C	c.(2161-2163)aGa>aCa	p.R721T	CENPJ_ENST00000545981.1_Missense_Mutation_p.R721T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	721					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GCCCCTCTCTCTATCCTCAGT	0.468000													29	61					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37941228	37941228	+	Missense_Mutation	SNP	C	C	T	rs140377627		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:37941228C>T	ENST00000373087.6	+	2	247	c.131C>T	c.(130-132)tCg>tTg	p.S44L		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	44					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGGAGGCCTCGGCCCTGGAA	0.627000													15	28					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65734819	65734819	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:65734819C>T	ENST00000312397.5	+	10	1370	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	426					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGCTGCCTCTCGGGGACCAGA	0.592000													72	64					0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2288914	2288914	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:2288914C>G	ENST00000378531.3	-	10	1166	c.993G>C	c.(991-993)ttG>ttC	p.L331F	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.L331F	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	331										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GGAGGGCACCCAAATGCAGCT	0.687000													23	35					0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74911640	74911640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:74911640C>T	ENST00000395066.3	+	2	1008	c.547C>T	c.(547-549)Cga>Tga	p.R183*	CLK3_ENST00000348245.3_Nonsense_Mutation_p.R35*|CLK3_ENST00000352989.5_Nonsense_Mutation_p.R35*|CLK3_ENST00000345005.4_Nonsense_Mutation_p.R35*	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	183	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGGAGACTGCGATACCCGTC	0.577000													43	36					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483349	17483349	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:17483349C>T	ENST00000302539.4	-	5	728	c.603G>A	c.(601-603)ccG>ccA	p.P201P	ABCC8_ENST00000389817.3_Silent_p.P201P	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	201					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCACCTCCCTCGGTGTCTTGA	0.577000													17	16					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41809958	41809958	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:41809958G>A	ENST00000392006.3	+	13	2227	c.2054G>A	c.(2053-2055)aGa>aAa	p.R685K	HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R585K|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R585K|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R685K|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R596K|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R585K|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R571K	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	685	Asn-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCAACAACAGAGGCAGCTAC	0.612000													25	57					0	0	1	0	0
TMEM258	746	broad.mit.edu	37	11	61558068	61558068	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:61558068C>T	ENST00000537328.1	-	2	61	c.10G>A	c.(10-12)Gag>Aag	p.E4K	TMEM258_ENST00000535042.1_5'UTR|TMEM258_ENST00000543510.1_5'UTR	NM_014206.3	NP_055021.1			transmembrane protein 258																		CTCATGGCCTCGAGCTCCTAG	0.537000													3	11					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29845300	29845300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:29845300C>T	ENST00000357402.5	+	5	628	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Nonsense_Mutation_p.Q164*	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	164					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			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						GGAGATCATTCAGGCCACCAT	0.617000													32	27					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42754689	42754689	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:42754689G>A	ENST00000310232.6	-	14	1921	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	613										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTGGGAGGCTGATGCCTTCCC	0.612000													17	63					0	0	1	0	0
HES1	3280	broad.mit.edu	37	3	193854477	193854477	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:193854477G>A	ENST00000232424.3	+	2	416	c.180G>A	c.(178-180)ctG>ctA	p.L60L		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	60	Helix-loop-helix motif.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TGAAAACACTGATTTTGGATG	0.383000													18	10					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178082526	178082526	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:178082526G>C	ENST00000411529.2	+	8	899	c.848G>C	c.(847-849)gGa>gCa	p.G283A	HNRNPA3_ENST00000392524.2_Missense_Mutation_p.G305A|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G305A	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	305	Gly-rich.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GGATATGGTGGAGGTGGAGGA	0.433000													20	84					0	0	1	0	0
MB	4151	broad.mit.edu	37	22	36003350	36003350	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:36003350C>T	ENST00000397326.2	-	3	657	c.459G>A	c.(457-459)caG>caA	p.Q153Q	MB_ENST00000401702.1_Silent_p.Q98Q|MB_ENST00000397328.1_Silent_p.Q153Q|MB_ENST00000359787.1_Silent_p.Q153Q|MB_ENST00000406324.1_Silent_p.Q153Q	NM_005368.2	NP_005359.1	P02144	MYG_HUMAN	myoglobin	153							heme binding|oxygen transporter activity			lung(1)	1						GGGCCTAGCCCTGGAAGCCCA	0.617000													4	45					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125848251	125848251	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:125848251G>C	ENST00000392693.3	-	18	3431	c.3304C>G	c.(3304-3306)Cag>Gag	p.Q1102E	CDON_ENST00000531738.1_Missense_Mutation_p.Q479E|CDON_ENST00000263577.7_Missense_Mutation_p.Q1102E	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1102					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			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)		GGGTCAATCTGAGGCACGGCC	0.453000													3	11					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245850930	245850930	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:245850930G>C	ENST00000366518.4	+	9	3606	c.3502G>C	c.(3502-3504)Gag>Cag	p.E1168Q	KIF26B_ENST00000407071.2_Missense_Mutation_p.E1549Q			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1549					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCGGCAGGAGGAGCCGGACAG	0.672000													5	8					0	0	1	0	0
HOXC8	3224	broad.mit.edu	37	12	54404977	54404977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:54404977G>A	ENST00000040584.4	+	2	778	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	181						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						ACGTCGGATTGAAGTCTCTCA	0.478000													23	100					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40942570	40942570	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:40942570G>C	ENST00000346991.5	+	19	6634	c.6244G>C	c.(6244-6246)Gaa>Caa	p.E2082Q	CASC5_ENST00000399668.2_Missense_Mutation_p.E2056Q			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2082	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAGAGCTGCAGAAAAAGGTAA	0.343000													26	17					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102249040	102249040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:102249040C>G	ENST00000335968.3	-	6	1102	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	296					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTAGTCTTTCAAAAGGTTGC	0.378000													27	51					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37125474	37125474	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:37125474C>T	ENST00000274258.7	-	46	8949	c.5362G>A	c.(5362-5364)Gac>Aac	p.D1788N	C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000508244.1_Missense_Mutation_p.D2890N|C5orf42_ENST00000425232.2_Missense_Mutation_p.D2890N			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2890										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTTCCTTGTCAGTTCTTTGT	0.348000													11	84					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24511624	24511624	+	Splice_Site	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:24511624C>T	ENST00000264463.4	-	6	1322		c.e6-1			NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGAATAGTGTCTGTAAAGTAT	0.423000										HNSCC(23;0.051)			6	20					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50862274	50862274	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:50862274G>A	ENST00000253719.2	-	8	1237	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	343					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CTACCTGGATGACGTAATCAT	0.557000													54	21					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113303265	113303265	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:113303265G>A	ENST00000389385.4	+	6	774	c.277G>A	c.(277-279)Gat>Aat	p.D93N	RPH3A_ENST00000543106.2_Missense_Mutation_p.D93N|RPH3A_ENST00000551052.1_Missense_Mutation_p.D89N|RPH3A_ENST00000415485.3_Missense_Mutation_p.D93N|RPH3A_ENST00000548866.1_Missense_Mutation_p.D44N|RPH3A_ENST00000447659.2_Missense_Mutation_p.D44N|RPH3A_ENST00000420983.2_Missense_Mutation_p.D93N	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	93	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CGTGGCTGGAGATGGGGTGAA	0.532000													27	59					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574314	41574314	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:41574314G>C	ENST00000263253.7	+	31	7818	c.6599G>C	c.(6598-6600)gGa>gCa	p.G2200A	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2200	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCAGGGCCAGGAATAGGCCCT	0.537000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				11	29					0	0	1	0	0
HOXC8	3224	broad.mit.edu	37	12	54403395	54403395	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:54403395G>A	ENST00000040584.4	+	1	564	c.327G>A	c.(325-327)gtG>gtA	p.V109V	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	109						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						CGAGCGTGGTGCAATATCCCG	0.542000													69	259					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219339480	219339480	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:219339480C>G	ENST00000258399.3	-	20	2584	c.2172G>C	c.(2170-2172)ctG>ctC	p.L724L	USP37_ENST00000454775.1_Silent_p.L724L|USP37_ENST00000418019.1_Silent_p.L724L|USP37_ENST00000415516.1_Silent_p.L630L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	724					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CTTCATGACTCAGAGATGGTG	0.418000													16	42					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7786167	7786167	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:7786167G>A	ENST00000358415.4	+	18	2498	c.2332G>A	c.(2332-2334)Gag>Aag	p.E778K	ITIH2_ENST00000379587.4_Missense_Mutation_p.E767K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	778					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AATCAGCACTGAGACCATCAC	0.433000													22	55					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160557	51160557	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:51160557G>A	ENST00000414786.2	+	21	4481	c.4254G>A	c.(4252-4254)ccG>ccA	p.P1418P	SHANK3_ENST00000445220.2_Silent_p.P1434P|SHANK3_ENST00000262795.3_Silent_p.P1448P			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1448										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TCAGGGACCCGCTGCTGAAGC	0.687000													7	9					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59134703	59134703	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:59134703C>T	ENST00000472487.1	-	13	1708	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	557					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TGGAAGGGATCAAACGAGCTG	0.303000													7	11					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44060605	44060605	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:44060605G>C	ENST00000344290.5	+	6	757	c.435G>C	c.(433-435)ctG>ctC	p.L145L	MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.L145L|MAPT_ENST00000262410.5_Silent_p.L145L|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000571987.1_Silent_p.L145L	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	145					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			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)				CCCCAGGTCTGAGCCACCAGC	0.652000													4	7					0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19263315	19263315	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:19263315C>G	ENST00000454498.2	-	10	2588	c.1575G>C	c.(1573-1575)caG>caC	p.Q525H	CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.Q525H|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.Q525H|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.Q525H|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.Q525H	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	525					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TACTTGTCTTCTGTTTCTGTT	0.483000													37	66					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51569549	51569549	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:51569549G>A	ENST00000522124.1	+	14	1591	c.930G>A	c.(928-930)ctG>ctA	p.L310L	SNTG1_ENST00000276467.5_Silent_p.L310L|SNTG1_ENST00000517473.1_Silent_p.L310L|SNTG1_ENST00000518864.1_Silent_p.L310L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	310	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.L310L(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCCTGGCCCTGAGGGGCTCAT	0.483000													70	84					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54614259	54614259	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:54614259C>T	ENST00000545554.1	+	13	4391	c.4391C>T	c.(4390-4392)tCt>tTt	p.S1464F	UNC13C_ENST00000260323.11_Missense_Mutation_p.S1464F|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1462F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1464					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			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)		ATACAGGTTTCTGCCTCAGAT	0.388000													4	10					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49935453	49935453	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:49935453G>A	ENST00000257981.6	+	3	611	c.351G>A	c.(349-351)aaG>aaA	p.K117K	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	117	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TACCCATAAAGAATGAGAAAG	0.542000													35	178					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77436963	77436963	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:77436963G>A	ENST00000322886.7	-	7	1240	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	E2F7_ENST00000416496.2_Silent_p.L335L	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	335					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTATGTCATAGAGGCGTCGTA	0.463000													40	80					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237837471	237837471	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:237837471C>T	ENST00000366574.2	+	59	8983	c.8666C>T	c.(8665-8667)gCa>gTa	p.A2889V	RYR2_ENST00000542537.1_Missense_Mutation_p.A2873V|RYR2_ENST00000360064.6_Missense_Mutation_p.A2887V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2889	4 X approximate repeats.|Calmodulin-binding (Potential).|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGAAAAAGCACAGGACATC	0.423000													8	38					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390274	52390274	+	RNA	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:52390274C>T	ENST00000443374.2	+	0	1463																											TTCTCTTCTTCAGAAAAAGAC	0.358000													6	5					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41797425	41797425	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:41797425C>A	ENST00000263800.6	-	15	2002	c.1906G>T	c.(1906-1908)Gaa>Taa	p.E636*	LTK_ENST00000561619.1_Nonsense_Mutation_p.E334*|LTK_ENST00000355166.5_Nonsense_Mutation_p.E575*|LTK_ENST00000453182.2_Nonsense_Mutation_p.E506*	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	636	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AAGTGATTTTCCTCCAGGTAG	0.602000										TSP Lung(18;0.14)			11	26					7.03913e-09	7.31379e-09	1	1	0
GRPEL1	80273	broad.mit.edu	37	4	7069742	7069742	+	Silent	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr4:7069742C>A	ENST00000264954.4	-	1	182	c.18G>T	c.(16-18)gtG>gtT	p.V6V		NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	6					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCGCCAACCTCACGCACTGAG	0.642000													3	12					0.115264	0.115761	1	1	0
TTF1	7270	broad.mit.edu	37	9	135278023	135278023	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:135278023G>C	ENST00000334270.2	-	2	225	c.186C>G	c.(184-186)ctC>ctG	p.L62L		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	62	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GAGAAGAAATGAGATGCTGGA	0.388000													23	60					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	82000021	82000021	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:82000021G>A	ENST00000336735.4	-	1	184	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SEL1L_ENST00000555824.1_Missense_Mutation_p.S23L	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	23	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ATACTGACCCGAGGACGCCGA	0.721000													10	3					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669199	53669199	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:53669199C>T	ENST00000600412.1	-	2	464	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	ZNF665_ENST00000396424.3_Missense_Mutation_p.E182K			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCCACATTCATCACATTTA	0.378000													60	81					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15349778	15349778	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:15349778C>T	ENST00000263377.2	-	19	4017	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1266					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGCGCATCCTCGTCCTCTCGG	0.701000			T	C15orf55	lethal midline carcinoma of young people								6	3					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123706366	123706366	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:123706366G>A	ENST00000606320.1	-	5	631	c.425C>T	c.(424-426)tCt>tTt	p.S142F	MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000302349.5_5'UTR|MPHOSPH9_ENST00000392425.3_5'UTR|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S112F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	0					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTTGTTTGAAGAATTTCCTTC	0.333000													23	16					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49847473	49847473	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:49847473C>A	ENST00000333486.3	-	14	1935	c.1777G>T	c.(1777-1779)Gat>Tat	p.D593Y		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	593					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TAGGGGGCATCCTCAGAAGCT	0.627000													15	31					2.32078e-09	2.41673e-09	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27097665	27097665	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:27097665C>A	ENST00000324856.7	+	12	3625	c.3254C>A	c.(3253-3255)tCa>tAa	p.S1085*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S702*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S1085*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1085	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGGGCACATCAAGCAGTGCT	0.478000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	30					1.12685e-05	1.15156e-05	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41967536	41967536	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:41967536C>T	ENST00000298919.7	+	10	2563	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	PDZRN4_ENST00000539469.2_Silent_p.I727I|PDZRN4_ENST00000402685.2_Silent_p.I985I			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	985							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAAGGAGATCAATATCATTG	0.483000													19	28					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046718	76046718	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:76046718C>A	ENST00000335749.4	+	3	2144	c.1575C>A	c.(1573-1575)gaC>gaA	p.D525E	TNRC6C_ENST00000541771.1_Missense_Mutation_p.D525E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.D525E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.D525E|TNRC6C_ENST00000588061.1_Missense_Mutation_p.D525E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.D525E	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	525	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTTGGGGAGACAGCAACAACA	0.557000													17	80					3.41278e-10	3.55784e-10	1	1	0
NAGPA	51172	broad.mit.edu	37	16	5083377	5083377	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:5083377C>G	ENST00000312251.3	-	2	458	c.439G>C	c.(439-441)Gag>Cag	p.E147Q	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Missense_Mutation_p.E147Q	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	147					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCAGGCACTCGCCCGAGTTC	0.736000													16	6					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53030677	53030677	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:53030677C>G	ENST00000378037.5	+	2	180	c.90C>G	c.(88-90)ctC>ctG	p.L30L	CKAP2_ENST00000378034.3_Silent_p.L30L|CKAP2_ENST00000258607.5_Silent_p.L30L|CKAP2_ENST00000490903.1_5'UTR	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	30					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GACAAAAACTCAAGGAACATC	0.323000													44	48					0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157816076	157816076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:157816076G>A	ENST00000389589.4	-	6	943	c.808C>T	c.(808-810)Cag>Tag	p.Q270*	SHOX2_ENST00000483851.2_Intron|SHOX2_ENST00000425436.3_Nonsense_Mutation_p.Q246*|SHOX2_ENST00000441443.2_Intron|SHOX2_ENST00000490689.2_Intron	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	246					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCCTGAACCTGAAAGGACAAG	0.597000													29	27					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48369760	48369760	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:48369760C>T	ENST00000380518.3	-	50	3747	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	COL2A1_ENST00000337299.6_Missense_Mutation_p.E1126K|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1195	Triple-helical region.		Missing (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGCCGGTTTCGCCTGATCGT	0.607000													54	43					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50103758	50103758	+	Silent	SNP	G	G	A	rs147895205	byFrequency	TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:50103758G>A	ENST00000443081.1	+	17	3289	c.2370G>A	c.(2368-2370)caG>caA	p.Q790Q	RBM6_ENST00000266022.4_Silent_p.Q922Q|RBM6_ENST00000539992.1_Silent_p.Q264Q|RBM6_ENST00000442092.1_Silent_p.Q400Q|RBM6_ENST00000422955.1_Silent_p.Q400Q|RBM6_ENST00000441115.1_3'UTR			P78332	RBM6_HUMAN	RNA binding motif protein 6	922					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGAGGAACAGACCCCTCCCC	0.532000													15	35					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27686828	27686828	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:27686828G>C	ENST00000493901.1	-	17	2325	c.2086C>G	c.(2086-2088)Ctt>Gtt	p.L696V	MAP3K6_ENST00000374040.3_Missense_Mutation_p.L688V|MAP3K6_ENST00000357582.2_Missense_Mutation_p.L696V	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	696	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGTCTGTGAAGAGCGATCTCT	0.597000													7	30					0	0	1	0	0
TRIM47	91107	broad.mit.edu	37	17	73870748	73870748	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:73870748G>A	ENST00000254816.2	-	6	1759	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	TRIM47_ENST00000587339.1_Missense_Mutation_p.S340F	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	578	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding	p.S578F(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGGGCCGGGAGGCCTTCAG	0.662000													29	27					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122395036	122395036	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:122395036C>G	ENST00000288912.4	+	11	2446	c.1592C>G	c.(1591-1593)tCt>tGt	p.S531C	WDR66_ENST00000397454.2_Missense_Mutation_p.S531C	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	531							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CACACCCTGTCTATTGTTAAC	0.393000													25	62					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20224232	20224232	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr13:20224232G>A	ENST00000361479.5	+	5	1476	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E470K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	470					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GAAAAGGGAAGAAATACCACT	0.328000													10	23					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30006426	30006426	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:30006426G>A	ENST00000279392.3	-	3	1129	c.299C>T	c.(298-300)tCg>tTg	p.S100L	HIRIP3_ENST00000566471.1_Intron|HIRIP3_ENST00000564026.1_Missense_Mutation_p.S100L	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	100					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GCACTAACCCGACTCTGAATT	0.547000													17	51					0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107393524	107393524	+	Silent	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:107393524G>T	ENST00000008527.5	-	7	1809	c.942C>A	c.(940-942)atC>atA	p.I314I		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	314	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCTGAACACAGATAGGGTTTC	0.458000													31	30					1.13719e-10	1.18819e-10	1	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1774591	1774591	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:1774591G>C	ENST00000250894.4	+	2	509	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E118Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	118					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCTGGAACAAGAGAAGAAAGA	0.517000													17	47					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18933781	18933781	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr21:18933781C>T	ENST00000284878.7	+	6	1568	c.820C>T	c.(820-822)Cat>Tat	p.H274Y	CXADR_ENST00000400169.1_Missense_Mutation_p.H274Y|CXADR_ENST00000400166.1_Intron|CXADR_ENST00000306618.10_Missense_Mutation_p.H233Y|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400165.1_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	274					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		AAAGGAAGTTCATCACGATAT	0.373000													15	17					0	0	1	0	0
DAZAP2	9802	broad.mit.edu	37	12	51636317	51636317	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:51636317C>T	ENST00000549555.1	+	4	589	c.505C>T	c.(505-507)Cat>Tat	p.H169Y	DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000412716.3_3'UTR|DAZAP2_ENST00000549732.2_3'UTR|DAZAP2_ENST00000449723.3_3'UTR|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000439799.2_3'UTR	NM_001136266.1	NP_001129738.1	Q15038	DAZP2_HUMAN	DAZ associated protein 2	0							WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CTGCTTTAGTCATATTAACCT	0.438000													14	31					0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	73997022	73997022	+	Silent	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:73997022G>C	ENST00000331597.4	-	7	987	c.942C>G	c.(940-942)ctC>ctG	p.L314L	P4HA3_ENST00000427714.2_Silent_p.L314L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	314						endoplasmic reticulum lumen	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			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GGATCTGGTAGAGAGTGGGCT	0.493000													22	52					0	0	1	0	0
CHAD	1101	broad.mit.edu	37	17	48545869	48545869	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr17:48545869G>C	ENST00000508540.1	-	1	458	c.306C>G	c.(304-306)atC>atG	p.I102M	ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.I102M|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	102					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGTACAAGTAGATAAGTTGCT	0.607000													24	37					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555314	182555314	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:182555314G>A	ENST00000367559.3	-	2	881	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	RNASEL_ENST00000539397.1_Missense_Mutation_p.L210F|RNASEL_ENST00000444138.1_Missense_Mutation_p.L210F	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	210					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GAGCTCAGGAGAGCATGGATC	0.502000													31	36					0	0	1	0	0
MMD2	221938	broad.mit.edu	37	7	4955668	4955668	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr7:4955668G>C	ENST00000404774.3	-	4	527	c.333C>G	c.(331-333)atC>atG	p.I111M	MMD2_ENST00000406755.1_Missense_Mutation_p.I111M|MMD2_ENST00000401401.3_Missense_Mutation_p.I111M	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	111						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TGAAGAAATAGATGACCATCC	0.552000													19	16					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809256	31809256	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:31809256G>C	ENST00000446923.2	+	7	1336	c.945G>C	c.(943-945)aaG>aaC	p.K315N	ZEB1_ENST00000320985.10_Missense_Mutation_p.K331N|ZEB1_ENST00000560721.2_Missense_Mutation_p.K311N|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.K332N|ZEB1_ENST00000542815.3_Missense_Mutation_p.K264N	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	331					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TACGGCAAAAGATAGAGAATA	0.433000													12	27					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197544164	197544164	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:197544164G>C	ENST00000438796.2	+	3	569	c.525G>C	c.(523-525)ttG>ttC	p.L175F	LRCH3_ENST00000334859.4_Missense_Mutation_p.L175F|LRCH3_ENST00000414675.2_Missense_Mutation_p.L175F|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000425562.2_Missense_Mutation_p.L175F			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	175						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TTAGACATTTGATGGAACTTG	0.343000													11	33					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182025730	182025730	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:182025730G>A	ENST00000339948.3	-	2	1623	c.1416C>T	c.(1414-1416)ggC>ggT	p.G472G		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGGGCCTCTCGCCAGTGTGGA	0.662000													3	21					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239059481	239059481	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:239059481G>C	ENST00000409223.1	+	8	1619	c.1512G>C	c.(1510-1512)gaG>gaC	p.E504D	KLHL30_ENST00000305959.4_Missense_Mutation_p.E486D			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	504										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCCTGCATGAGAATGGCGCGC	0.662000													3	7					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15350232	15350232	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr19:15350232C>T	ENST00000263377.2	-	17	3768	c.3547G>A	c.(3547-3549)Gag>Aag	p.E1183K		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1183					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTCTTCGGCTCCTGTTTCTGT	0.632000			T	C15orf55	lethal midline carcinoma of young people								45	37					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37234200	37234200	+	Silent	SNP	C	C	G	rs144736173		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:37234200C>G	ENST00000233099.5	-	29	4865	c.4770G>C	c.(4768-4770)ctG>ctC	p.L1590L	HEATR5B_ENST00000354531.2_Silent_p.L1590L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1590							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TACCTAAAATCAGATGCATTC	0.318000													36	30					0	0	1	0	0
PSMA4	5685	broad.mit.edu	37	15	78841248	78841248	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr15:78841248G>A	ENST00000044462.7	+	9	898	c.748G>A	c.(748-750)Gag>Aag	p.E250K	PSMA4_ENST00000560217.1_Missense_Mutation_p.E219K|PSMA4_ENST00000559082.1_Missense_Mutation_p.E250K|PSMA4_ENST00000558281.1_3'UTR|PSMA4_ENST00000558094.1_3'UTR|PSMA4_ENST00000558341.1_3'UTR|PSMA4_ENST00000413382.2_Missense_Mutation_p.E179K	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	250					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			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AGCTGAGCGTGAGAAGAAAGA	0.368000													22	12					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145578321	145578321	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:145578321C>T	ENST00000393045.2	+	2	374	c.284C>T	c.(283-285)cCc>cTc	p.P95L	PIAS3_ENST00000369298.1_Intron|PIAS3_ENST00000369299.3_Missense_Mutation_p.P86L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	95	Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTCTAGCTCCCATTCCCCCA	0.662000													34	57					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097698	167097698	+	Silent	SNP	G	G	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:167097698G>T	ENST00000361200.2	+	6	3496	c.3330G>T	c.(3328-3330)ggG>ggT	p.G1110G	DUSP27_ENST00000271385.5_Silent_p.G1110G|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.G1110G			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1110					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGAAGAAGGGAGGTTTGCAT	0.507000													5	17					5.18039e-06	5.31732e-06	1	1	0
DENND2C	163259	broad.mit.edu	37	1	115130050	115130050	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:115130050C>T	ENST00000393274.1	-	20	3338	c.2713G>A	c.(2713-2715)Gag>Aag	p.E905K	DENND2C_ENST00000393277.1_Missense_Mutation_p.E793K|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.E848K	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	905										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTCCGACTCAGGAATTGTT	0.463000													87	108					0	0	1	0	0
JOSD1	9929	broad.mit.edu	37	22	39083955	39083955	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr22:39083955C>T	ENST00000216039.5	-	4	1240	c.561G>A	c.(559-561)gtG>gtA	p.V187V		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	187	Josephin.						peptidase activity			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					CTTCTGGTACCACCAGCAGGA	0.473000													16	52					0	0	1	0	0
PRPF39	55015	broad.mit.edu	37	14	45581661	45581661	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:45581661G>C	ENST00000355765.6	+	11	1883	c.1713G>C	c.(1711-1713)caG>caC	p.Q571H		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	571					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CATTTTCTCAGAGAAAAGTGG	0.274000													8	15					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83813674	83813674	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:83813674G>A	ENST00000566620.1	+	12	2073	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	CDH13_ENST00000428848.3_Missense_Mutation_p.D556N|CDH13_ENST00000268613.10_Missense_Mutation_p.D642N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	595	Cadherin 5.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGTCTGTGATGATGCCAAAAA	0.473000													8	26					0	0	1	0	0
YPEL5	51646	broad.mit.edu	37	2	30379617	30379617	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:30379617C>G	ENST00000379520.3	+	4	604	c.100C>G	c.(100-102)Cgt>Ggt	p.R34G	YPEL5_ENST00000379519.3_Missense_Mutation_p.R34G|YPEL5_ENST00000402003.3_Missense_Mutation_p.R34G|YPEL5_ENST00000402708.1_Missense_Mutation_p.R34G|YPEL5_ENST00000261353.4_Missense_Mutation_p.R34G|YPEL5_ENST00000495673.1_3'UTR	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	34							peptide-methionine-(S)-S-oxide reductase activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					CATCTCCACTCGTTTCACAGG	0.443000													39	41					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39086787	39086787	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr9:39086787C>G	ENST00000297668.6	-	20	3353	c.3280G>C	c.(3280-3282)Gat>Cat	p.D1094H	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.D1006H|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.D1013H	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1094	Laminin G-like 4.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTTTAAAATCAAAGGTAAAT	0.343000													28	11					0	0	1	0	0
RMDN1	51115	broad.mit.edu	37	8	87498732	87498732	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:87498732G>C	ENST00000406452.3	-	4	635	c.476C>G	c.(475-477)tCa>tGa	p.S159*	RMDN1_ENST00000519966.1_Nonsense_Mutation_p.S159*|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Nonsense_Mutation_p.S115*|RMDN1_ENST00000430676.2_Nonsense_Mutation_p.S159*	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1																		TGCAAAACTTGATTCATTTTT	0.358000													47	48					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14861786	14861786	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:14861786G>A	ENST00000285046.5	+	1	1318	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	FGD5_ENST00000543601.1_Missense_Mutation_p.G162E	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	403			G -> R (in dbSNP:rs7636593).		actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.G162A(1)|p.G403A(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTACAGGGTGGAGCGGCCGAG	0.632000													13	29					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801354	39801354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:39801354G>A	ENST00000564288.1	+	37	9871	c.9094G>A	c.(9094-9096)Gaa>Aaa	p.E3032K	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E3069K|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.E3037K|MACF1_ENST00000289893.4_Missense_Mutation_p.E1472K|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3037					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCTGATACAGAAATGGGATT	0.378000													20	46					0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177681976	177681976	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:177681976C>T	ENST00000390654.3	-	16	1291	c.934G>A	c.(934-936)Gat>Aat	p.D312N	COL23A1_ENST00000407622.1_Silent_p.*310*	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	312	Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		ATCCTGCCATCATAGTCGATC	0.507000													89	118					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14508126	14508126	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr5:14508126C>G	ENST00000344204.4	+	57	8913	c.8889C>G	c.(8887-8889)atC>atG	p.I2963M	TRIO_ENST00000344135.5_Missense_Mutation_p.I462M|TRIO_ENST00000537187.1_Missense_Mutation_p.I2787M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2963	Protein kinase.				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			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)					CCCCTGAAATCATCCTCGGGA	0.532000													38	36					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121476721	121476721	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:121476721G>A	ENST00000257570.5	-	1	324	c.54C>T	c.(52-54)ttC>ttT	p.F18F	OASL_ENST00000339275.5_Silent_p.F18F	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	18					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTGAGCCACGAAGGAGTCCA	0.602000													9	10					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196751249	196751249	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:196751249C>T	ENST00000296350.5	-	4	525	c.412G>A	c.(412-414)Gtg>Atg	p.V138M	MFI2_ENST00000296351.4_Missense_Mutation_p.V138M	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	138	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TTCCAGCCCACTGTGCGATTG	0.617000													35	33					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266718	48266718	+	Silent	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr11:48266718G>A	ENST00000302329.3	+	1	111	c.63G>A	c.(61-63)gtG>gtA	p.V21V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTTGCTTTGTGATATTTCTGT	0.453000													13	63					0	0	1	0	0
NICN1	84276	broad.mit.edu	37	3	49466643	49466643	+	Silent	SNP	C	C	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:49466643C>T	ENST00000273598.3	-	1	116	c.30G>A	c.(28-30)gtG>gtA	p.V10V	NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Silent_p.V10V	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	10						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGGAGCCTTTCACATGGCAAG	0.662000													27	17					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044967	119044967	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:119044967G>A	ENST00000334464.5	-	5	1516	c.1277C>T	c.(1276-1278)tCa>tTa	p.S426L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	426	PDZ.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TTGCAGTGTTGATGTGATTTT	0.358000													10	30					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114711348	114711348	+	Silent	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr10:114711348C>G	ENST00000545257.1	+	3	870	c.363C>G	c.(361-363)ctC>ctG	p.L121L	TCF7L2_ENST00000536810.1_Silent_p.L121L|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000538897.1_Silent_p.L121L|TCF7L2_ENST00000349937.2_Silent_p.L121L|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000369397.4_Silent_p.L121L|TCF7L2_ENST00000355717.4_Silent_p.L121L|TCF7L2_ENST00000352065.5_Silent_p.L121L|TCF7L2_ENST00000543371.1_Silent_p.L121L|TCF7L2_ENST00000369395.1_Silent_p.L121L|TCF7L2_ENST00000534894.1_Silent_p.L121L|TCF7L2_ENST00000355995.4_Silent_p.L121L			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	121				NGSL -> KRSV (in Ref. 2; CAB97212/ CAB97213).	anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACGGATCGCTCTCGCCCACCG	0.736000			T	VTI1A	colorectal								3	7					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201533504	201533504	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:201533504C>G	ENST00000374700.2	+	33	4017	c.3776C>G	c.(3775-3777)tCa>tGa	p.S1259*	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1259					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCTCAAAACTCAAATACTCTT	0.423000													15	43					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34083158	34083158	+	Missense_Mutation	SNP	C	C	G	rs147615570		TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr1:34083158C>G	ENST00000373381.4	-	38	6063	c.5887G>C	c.(5887-5889)Gag>Cag	p.E1963Q	CSMD2_ENST00000373388.2_Missense_Mutation_p.E62Q|CSMD2_ENST00000373380.1_Missense_Mutation_p.E836Q|CSMD2_ENST00000373377.1_Missense_Mutation_p.E62Q	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1923	Sushi 11.					integral to membrane|plasma membrane	protein binding	p.E1923*(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)				AAGTAGCGCTCGCCAGTCTTC	0.572000													4	18					0	0	1	0	0
BOLL	66037	broad.mit.edu	37	2	198641782	198641782	+	Splice_Site	DEL	C	C	-			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr2:198641782delC	ENST00000321801.7	-	4	883		c.e4+1		BOLL_ENST00000430004.1_Splice_Site|BOLL_ENST00000433157.1_Splice_Site|BOLL_ENST00000282278.8_Intron|BOLL_ENST00000392296.4_Splice_Site	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein						cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						AAAGATCATACCTCTTGTAAA	0.259													29	49	---	---	---	---					
GRIP2	80852	broad.mit.edu	37	3	14547144	14547146	+	RNA	DEL	TCC	TCC	-			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr3:14547144_14547146delTCC	ENST00000273083.3	-	0	2614_2616							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CTCCCAATCATCCTCCTCCTCCT	0.660													5	8	---	---	---	---					
MFHAS1	9258	broad.mit.edu	37	8	8747917	8747918	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr8:8747917_8747918insT	ENST00000276282.6	-	1	3237_3238	c.2651_2652insA	c.(2650-2652)tatfs	p.Y884fs		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	884										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AAGGAAAGCTATATTCAATCTG	0.480													19	78	---	---	---	---					
SCN8A	6334	broad.mit.edu	37	12	52200092	52200092	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr12:52200092delA	ENST00000354534.6	+	27	5000	c.4822delA	c.(4822-4824)aaafs	p.K1608fs	SCN8A_ENST00000545061.1_Frame_Shift_Del_p.K1567fs	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TATAATTGAGAAATACTTTGT	0.438													80	183	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	33015625	33015627	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr14:33015625_33015627delACA	ENST00000280979.4	+	4	1936_1938	c.1766_1768delACA	c.(1765-1770)gacaac>gac	p.N590del	AKAP6_ENST00000557272.1_In_Frame_Del_p.N590del|AKAP6_ENST00000557354.1_In_Frame_Del_p.N590del	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	590					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTTGGCTCAGACAACATCATGTC	0.458													16	49	---	---	---	---					
LOC102723841	102723841	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358													4	8	---	---	---	---					
LPIN2	9663	broad.mit.edu	37	18	2931255	2931255	+	Splice_Site	DEL	T	T	-			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chr18:2931255delT	ENST00000261596.4	-	9	1693	c.1455delA	c.(1453-1455)aaa>aa	p.K485fs		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	485					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CCAACGTACCTTTTGAAATTT	0.473													7	16	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123210252	123210262	+	Frame_Shift_Del	DEL	TTGTAAGCTAA	TTGTAAGCTAA	-			TCGA-DK-AA71-01A-31D-A391-08	TCGA-DK-AA71-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5736e7c2-cd94-4854-81e7-dc109b15e64a	0106edf8-edff-4fec-89b9-5ff5120d0e50	g.chrX:123210252_123210262delTTGTAAGCTAA	ENST00000371160.1	+	26	2894_2904	c.2604_2614delTTGTAAGCTAA	c.(2602-2616)ttttgtaagctaattfs	p.CKLI869fs	STAG2_ENST00000371145.3_Frame_Shift_Del_p.CKLI869fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.CKLI800fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.CKLI869fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.CKLI869fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.CKLI869fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	869					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.C869R(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTGCAGCATTTTGTAAGCTAATTGTATATAC	0.355													12	8	---	---	---	---