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
CDK11B	984	broad.mit.edu	37	1	1572563	1572563	+	Splice_Site	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:1572563C>A	ENST00000407249.3	-	16	1580	c.1581G>T	c.(1579-1581)ggG>ggT	p.G527G	CDK11B_ENST00000317673.7_Splice_Site_p.G525G|CDK11B_ENST00000341832.6_Splice_Site_p.G480G|CDK11B_ENST00000340677.5_Splice_Site_p.G514G			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	537	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TCTTCACCTCCCCTGGGAGGG	0.642													4	33	---	---	---	---
PER3	8863	broad.mit.edu	37	1	7844947	7844947	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:7844947G>T	ENST00000377532.3	+	1	234	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	PER3_ENST00000377541.1_Missense_Mutation_p.G4W|PER3_ENST00000361923.2_Missense_Mutation_p.G4W			P56645	PER3_HUMAN	period circadian clock 3	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GATGCCCCGCGGGGAAGCTCC	0.667													4	17	---	---	---	---
TNFRSF8	943	broad.mit.edu	37	1	12157182	12157182	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:12157182C>A	ENST00000263932.2	+	3	398	c.176C>A	c.(175-177)cCa>cAa	p.P59Q	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	59					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCAGTGCCCACAGAGGCCT	0.572													5	110	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27058091	27058091	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:27058091C>A	ENST00000324856.7	+	3	2170	c.1799C>A	c.(1798-1800)cCg>cAg	p.P600Q	ARID1A_ENST00000457599.2_Missense_Mutation_p.P600Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.P217Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	600					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)		TTCCCTCCACCGCAGGTAAGA	0.577			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	162	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673327	32673327	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:32673327T>C	ENST00000537469.1	+	5	1332	c.1285T>C	c.(1285-1287)Tca>Cca	p.S429P	IQCC_ENST00000291358.6_Missense_Mutation_p.S349P	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	349										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTATGAGGACTCAAATATTAA	0.498													3	151	---	---	---	---
ZSCAN20	7579	broad.mit.edu	37	1	33960126	33960126	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:33960126C>A	ENST00000361328.3	+	8	2335	c.2182C>A	c.(2182-2184)Cat>Aat	p.H728N		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	728					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTTCATTGCCCATCAGCGAAT	0.463													6	155	---	---	---	---
KIAA0754	643314	broad.mit.edu	37	1	39879530	39879530	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:39879530C>A	ENST00000530275.1	+	1	3380	c.3185C>A	c.(3184-3186)cCg>cAg	p.P1062Q	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1062	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			CCCACTTCCCCGGCAGCTTCA	0.642													3	31	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103387099	103387099	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:103387099C>A	ENST00000358392.2	-	48	4036	c.3719G>T	c.(3718-3720)gGc>gTc	p.G1240V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1112V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1189V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1228V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1228	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTGAGGGCCTCTTGGGCC	0.368													5	225	---	---	---	---
SLC16A4	9122	broad.mit.edu	37	1	110921517	110921517	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:110921517C>A	ENST00000369779.4	-	6	1237	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	SLC16A4_ENST00000541986.1_Missense_Mutation_p.G268W|SLC16A4_ENST00000437429.2_Missense_Mutation_p.G220W|SLC16A4_ENST00000472422.2_Missense_Mutation_p.G282W|SLC16A4_ENST00000369781.4_Intron	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	330						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	ATGTCAATCCCCAGTGTTTTG	0.413													5	111	---	---	---	---
CD101	9398	broad.mit.edu	37	1	117552477	117552477	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:117552477C>T	ENST00000256652.4	+	2	107	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	CD101_ENST00000369470.1_Missense_Mutation_p.L17F	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	17					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						ACAAGCTAAGCTCAGCATTGG	0.443													28	39	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153965386	153965386	+	Silent	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:153965386G>T	ENST00000368559.3	-	40	5663	c.5592C>A	c.(5590-5592)ccC>ccA	p.P1864P	NUP210L_ENST00000271854.3_Silent_p.P1712P|NUP210L_ENST00000368553.1_Silent_p.P645P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1864				FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345).		integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGAAGTGAGGGGGAGAACTTG	0.423													8	418	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228482724	228482724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:228482724C>A	ENST00000570156.2	+	48	13000	c.12926C>A	c.(12925-12927)tCg>tAg	p.S4309*	OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S3880*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S3880*|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.S2727*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.S999*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.S999*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3352	Ig-like 44.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAGGACCTCGGCCACACTC	0.587													4	136	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232649979	232649979	+	Missense_Mutation	SNP	C	C	T	rs113255944		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:232649979C>T	ENST00000366630.1	-	2	1465	c.1107G>A	c.(1105-1107)atG>atA	p.M369I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M369I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	369					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGCCCGTAGGCATCTGAGTCT	0.507													6	139	---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54826279	54826279	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:54826279C>A	ENST00000333896.5	+	2	545	c.160C>A	c.(160-162)Cac>Aac	p.H54N	SPTBN1_ENST00000356805.4_Missense_Mutation_p.H67N	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	67	Actin-binding.|CH 1.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGTCAATTCCCACCTTGCCCG	0.537													6	134	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100203740	100203740	+	Splice_Site	SNP	A	A	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:100203740A>G	ENST00000409236.2	-	14	2579	c.2467T>C	c.(2467-2469)Tgt>Cgt	p.C823R	AFF3_ENST00000356421.2_Splice_Site_p.C848R|AFF3_ENST00000317233.4_Splice_Site_p.C823R|AFF3_ENST00000409579.1_Splice_Site_p.C848R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGTTGTCACACTGTATGGGA	0.493													66	95	---	---	---	---
TMEM177	80775	broad.mit.edu	37	2	120438841	120438841	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:120438841C>A	ENST00000424086.1	+	2	885	c.412C>A	c.(412-414)Cgg>Agg	p.R138R	TMEM177_ENST00000272521.6_Silent_p.R138R|TMEM177_ENST00000401466.1_Silent_p.R138R|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	138						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					AGCAGGCGCCCGGCTGAGAGC	0.602													5	177	---	---	---	---
MARS2	92935	broad.mit.edu	37	2	198571628	198571628	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:198571628C>A	ENST00000282276.6	+	1	1542	c.1499C>A	c.(1498-1500)cCa>cAa	p.P500Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	500					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGGGAGAGCCCAGTGGATGCT	0.542													6	189	---	---	---	---
PLEKHM3	389072	broad.mit.edu	37	2	208866226	208866226	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:208866226C>A	ENST00000457206.1	-	2	565	c.138G>T	c.(136-138)gtG>gtT	p.V46V	PLEKHM3_ENST00000427836.2_Silent_p.V46V|PLEKHM3_ENST00000389247.4_Silent_p.V46V			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	46					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCATGCCCCACCAGTTCAG	0.483													6	161	---	---	---	---
LRRFIP1	9208	broad.mit.edu	37	2	238671963	238671963	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:238671963G>A	ENST00000244815.5	+	10	1775	c.1535G>A	c.(1534-1536)aGt>aAt	p.S512N	LRRFIP1_ENST00000392000.4_Missense_Mutation_p.S536N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S480N	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	536	DNA-binding.				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		ACAGGTCCAAGTACAGTAGAC	0.473													50	70	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10301992	10301992	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:10301992G>T	ENST00000287652.4	+	3	1637	c.586G>T	c.(586-588)Ggg>Tgg	p.G196W	TATDN2_ENST00000448281.2_Missense_Mutation_p.G196W|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	196						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGGCATCCTGGGGAAATCGAT	0.542													5	78	---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37034262	37034262	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:37034262C>A	ENST00000322716.5	-	1	533	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	103						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CGGCAGAGCCCGAGGCCTGCA	0.667													5	145	---	---	---	---
LTF	4057	broad.mit.edu	37	3	46491405	46491405	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:46491405C>A	ENST00000231751.4	-	8	1291	c.996G>T	c.(994-996)agG>agT	p.R332S	LTF_ENST00000417439.1_Missense_Mutation_p.R332S|LTF_ENST00000426532.2_Missense_Mutation_p.R288S	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	332	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CAGAATCTATCCTCGGGGGCA	0.557													30	26	---	---	---	---
DAG1	1605	broad.mit.edu	37	3	49568992	49568992	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:49568992C>A	ENST00000545947.1	+	6	1770	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T	DAG1_ENST00000308775.2_Missense_Mutation_p.P350T|DAG1_ENST00000538711.1_Missense_Mutation_p.P350T|DAG1_ENST00000539901.1_Missense_Mutation_p.P350T|DAG1_ENST00000541308.1_Missense_Mutation_p.P350T|DAG1_ENST00000515359.2_Missense_Mutation_p.P350T	NM_001177634.2	NP_001171105	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	350	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATTGCTCCTCCAACAGAGAC	0.602													7	184	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107491592	107491592	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:107491592A>G	ENST00000415149.2	+	11	1351	c.1024A>G	c.(1024-1026)Atg>Gtg	p.M342V	BBX_ENST00000406780.1_Missense_Mutation_p.M342V|BBX_ENST00000325805.8_Missense_Mutation_p.M342V|BBX_ENST00000402543.1_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAAATTAAAATGGAGAAAAC	0.323													82	101	---	---	---	---
B4GALT4	8702	broad.mit.edu	37	3	118937533	118937533	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:118937533C>A	ENST00000467604.1	-	6	1152	c.761G>T	c.(760-762)tGg>tTg	p.W254L	B4GALT4_ENST00000483209.1_Missense_Mutation_p.W254L|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.W254L|B4GALT4_ENST00000393765.2_Missense_Mutation_p.W254L|B4GALT4_ENST00000460321.1_Intron			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	254					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TCCCCATCCCCAGTAGTTGTT	0.512													5	131	---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184922218	184922218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:184922218G>T	ENST00000231887.3	-	6	971	c.896C>A	c.(895-897)tCa>tAa	p.S299*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.S203*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	299	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	AACACCAACTGAGGAGACAGG	0.488													5	111	---	---	---	---
MAPK10	5602	broad.mit.edu	37	4	86938398	86938398	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr4:86938398G>T	ENST00000395169.3	-	14	1984	c.1264C>A	c.(1264-1266)Ctg>Atg	p.L422M	MAPK10_ENST00000395160.3_3'UTR|MAPK10_ENST00000395166.1_Missense_Mutation_p.L422M|MAPK10_ENST00000395157.3_Missense_Mutation_p.L315M|MAPK10_ENST00000449047.2_Missense_Mutation_p.L315M|MAPK10_ENST00000359221.3_Missense_Mutation_p.L460M|MAPK10_ENST00000361569.2_3'UTR	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	460					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)		CAACAACCCAGGGGTCCTGCC	0.577													6	134	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229692	140229692	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr5:140229692C>T	ENST00000378122.3	+	1	2336	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R538C|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGACGCGGG	0.667													105	129	---	---	---	---
RAB24	53917	broad.mit.edu	37	5	176730072	176730072	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr5:176730072C>A	ENST00000303270.6	-	1	639	c.37G>T	c.(37-39)Ggg>Tgg	p.G13W	RAB24_ENST00000303251.6_Missense_Mutation_p.G42W|RAB24_ENST00000393611.2_Missense_Mutation_p.G42W			Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	42					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGCGGCCCCGATGGTCTGC	0.622													4	54	---	---	---	---
CAGE1	285782	broad.mit.edu	37	6	7373784	7373784	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:7373784C>T	ENST00000502583.1	-	5	1832	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K	CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K|CAGE1_ENST00000512086.1_Missense_Mutation_p.R423K|CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	423										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGTCATGTACCTTTCCTGTAA	0.348													43	50	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30857097	30857097	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:30857097C>A	ENST00000324771.8	+	6	855	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	DDR1_ENST00000376568.3_Missense_Mutation_p.Q103K|DDR1_ENST00000454612.2_Missense_Mutation_p.Q103K|DDR1_ENST00000513240.1_Missense_Mutation_p.Q103K|DDR1_ENST00000452441.1_Missense_Mutation_p.Q103K|DDR1_ENST00000376570.4_Missense_Mutation_p.Q103K|DDR1_ENST00000376569.3_Missense_Mutation_p.Q103K|DDR1_ENST00000508312.1_Missense_Mutation_p.Q121K|DDR1_ENST00000376575.3_Missense_Mutation_p.Q103K|DDR1_ENST00000418800.2_Missense_Mutation_p.Q103K|DDR1_ENST00000376567.2_Missense_Mutation_p.Q103K|DDR1_ENST00000446312.1_Missense_Mutation_p.Q103K			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	103	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGTGGGCACCCAGGGACGGCA	0.672													5	130	---	---	---	---
CUL7	9820	broad.mit.edu	37	6	43006645	43006645	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:43006645C>A	ENST00000535468.1	-	23	4713	c.4627G>T	c.(4627-4629)Ggg>Tgg	p.G1543W	CUL7_ENST00000265348.3_Missense_Mutation_p.G1459W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1459					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTCTGGTTCCCAAACTGCAGC	0.637													6	80	---	---	---	---
PRKAG2	51422	broad.mit.edu	37	7	151573651	151573651	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr7:151573651C>A	ENST00000287878.4	-	1	559	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W		NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	19					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CCGCCGCTCCCGCCGGGGCTG	0.587													5	90	---	---	---	---
SH2D4A	63898	broad.mit.edu	37	8	19190527	19190527	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr8:19190527G>T	ENST00000265807.3	+	3	654	c.243G>T	c.(241-243)atG>atT	p.M81I	SH2D4A_ENST00000518040.1_Missense_Mutation_p.M36I|SH2D4A_ENST00000519207.1_Missense_Mutation_p.M81I	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	81						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TATGGGTGATGGGCGAACACC	0.448													5	132	---	---	---	---
CPNE3	8895	broad.mit.edu	37	8	87549807	87549807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr8:87549807C>A	ENST00000521271.1	+	7	638	c.476C>A	c.(475-477)tCa>tAa	p.S159*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.S159*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	159	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTTGGAAAGTCAGACCCATAC	0.403													28	43	---	---	---	---
TP53INP1	94241	broad.mit.edu	37	8	95942872	95942872	+	Silent	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr8:95942872G>T	ENST00000342697.4	-	4	965	c.558C>A	c.(556-558)ccC>ccA	p.P186P	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_3'UTR|TP53INP1_ENST00000378776.4_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	186					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GAAAGCTCTTGGGTTGTTCCA	0.438													7	287	---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35555387	35555387	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr9:35555387C>A	ENST00000455600.1	+	3	2914	c.2345C>A	c.(2344-2346)cCc>cAc	p.P782H		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	782						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTACTCCCCCATCCGGAGT	0.662													8	209	---	---	---	---
WAC	51322	broad.mit.edu	37	10	28822945	28822945	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:28822945G>A	ENST00000354911.4	+	2	221	c.60G>A	c.(58-60)ggG>ggA	p.G20G	WAC_ENST00000347934.4_Silent_p.G20G|WAC_ENST00000375664.4_5'UTR|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000375646.1_5'UTR	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	20					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACCGGAGGGGGGACTCGCAGC	0.677													4	89	---	---	---	---
UNC5B	219699	broad.mit.edu	37	10	73047379	73047379	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:73047379C>T	ENST00000335350.6	+	6	1174	c.758C>T	c.(757-759)gCa>gTa	p.A253V	UNC5B_ENST00000373192.4_Missense_Mutation_p.A253V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	253	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TCCAGCTGGGCAGAGTGGTCA	0.667													42	68	---	---	---	---
SFR1	119392	broad.mit.edu	37	10	105883828	105883828	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:105883828G>T	ENST00000336358.5	+	2	1197	c.678G>T	c.(676-678)caG>caT	p.Q226H	SFR1_ENST00000369729.3_Missense_Mutation_p.Q151H|SFR1_ENST00000369727.3_Missense_Mutation_p.Q164H			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	164					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										AGCAGGTTCAGGAGAAAGAAG	0.363													4	40	---	---	---	---
HTRA1	5654	broad.mit.edu	37	10	124271537	124271537	+	Silent	SNP	A	A	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:124271537A>G	ENST00000368984.3	+	8	1358	c.1230A>G	c.(1228-1230)tcA>tcG	p.S410S		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	410	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACGTGATCTCAGGAGCGTATA	0.493													3	88	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62288981	62288981	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:62288981G>T	ENST00000378024.4	-	5	13182	c.12908C>A	c.(12907-12909)cCt>cAt	p.P4303H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4303					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTACATCAGGGGCATCGAT	0.522													8	360	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118516357	118516357	+	Silent	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:118516357C>T	ENST00000361417.2	+	17	3816	c.3405C>T	c.(3403-3405)gaC>gaT	p.D1135D	PHLDB1_ENST00000524713.1_Silent_p.D278D|PHLDB1_ENST00000527898.1_Silent_p.D186D|PHLDB1_ENST00000356063.5_Silent_p.D1088D|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1135										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCTCCCCTGACAACATGTCCA	0.642													34	54	---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130319507	130319507	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:130319507C>A	ENST00000299164.2	+	1	639	c.639C>A	c.(637-639)ttC>ttA	p.F213L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	213					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCAAGCGTTTCGTGTCTATCC	0.667													3	18	---	---	---	---
LEPREL2	10536	broad.mit.edu	37	12	6943162	6943162	+	RNA	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:6943162G>T	ENST00000251761.8	+	0	1440				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						GGGCGGTGTTGGATGGGCTGC	0.587													5	125	---	---	---	---
HIGD1C	613227	broad.mit.edu	37	12	51347860	51347860	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:51347860C>A	ENST00000398455.3	+	1	156	c.79C>A	c.(79-81)Ccc>Acc	p.P27T		NM_001109619.1	NP_001103089.1	A8MV81	HIG1C_HUMAN	HIG1 hypoxia inducible domain family, member 1C	27	HIG1.					integral to membrane				lung(1)	1						TAGAGACTCCCCCTTTGTCCC	0.418													6	112	---	---	---	---
GRIP1	23426	broad.mit.edu	37	12	66935631	66935631	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:66935631C>A	ENST00000359742.4	-	3	476	c.236G>T	c.(235-237)aGa>aTa	p.R79I	GRIP1_ENST00000398016.3_Missense_Mutation_p.R79I|GRIP1_ENST00000286445.7_Missense_Mutation_p.R79I			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	79	PDZ 1.				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)		ATTAGATACTCTTGGCTTGCC	0.468													7	380	---	---	---	---
LGR5	8549	broad.mit.edu	37	12	71978504	71978504	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:71978504C>A	ENST00000266674.5	+	18	3025	c.2714C>A	c.(2713-2715)cCa>cAa	p.P905Q	LGR5_ENST00000536515.1_Missense_Mutation_p.P833Q|LGR5_ENST00000540815.2_Missense_Mutation_p.P881Q			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	905						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCATTTGTCCCATGTCTCTAA	0.428													5	163	---	---	---	---
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103492069	103492069	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr13:103492069A>C	ENST00000602836.1	+	9	1280	c.1280A>C	c.(1279-1281)cAa>cCa	p.Q427P	BIVM_ENST00000257336.1_Missense_Mutation_p.N456H|BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.N234H	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GAGTGAAGACAATATTTCCAA	0.458													3	132	---	---	---	---
MCF2L	23263	broad.mit.edu	37	13	113732744	113732744	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr13:113732744G>A	ENST00000397030.1	+	14	1864	c.1827G>A	c.(1825-1827)agG>agA	p.R609R	MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000375597.4_Silent_p.R574R|MCF2L_ENST00000442652.2_Silent_p.R606R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000423482.2_Silent_p.R574R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000375608.3_Silent_p.R606R|MCF2L_ENST00000375601.3_Silent_p.R580R|MCF2L_ENST00000535094.2_Silent_p.R576R			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	606					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCTACCGGAGGGCCAAGGTGA	0.682													11	20	---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31858176	31858176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:31858176C>A	ENST00000543095.2	-	7	992	c.808G>T	c.(808-810)Gag>Tag	p.E270*	HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.E270*|HEATR5A_ENST00000389961.3_Nonsense_Mutation_p.E264*|HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.E264*|HEATR5A_ENST00000439727.1_5'UTR	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	264							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGAACTTCCTCCAAAGATACT	0.403													4	52	---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66188637	66188637	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:66188637G>T	ENST00000360689.5	+	8	2707	c.980G>T	c.(979-981)tGg>tTg	p.W327L	FUT8_ENST00000394585.1_Missense_Mutation_p.W327L|FUT8_ENST00000557164.1_Missense_Mutation_p.W164L|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.W327L|FUT8_ENST00000358307.2_Missense_Mutation_p.W198L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	327					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCAGTGTGGTGGGTGTCTCAG	0.483													7	158	---	---	---	---
ACOT4	122970	broad.mit.edu	37	14	74060421	74060421	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:74060421C>A	ENST00000326303.4	+	2	727	c.473C>A	c.(472-474)cCa>cAa	p.P158Q		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	158					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GGACCCTTCCCAGGGATCATT	0.448													7	131	---	---	---	---
CLK3	1198	broad.mit.edu	37	15	74911652	74911652	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr15:74911652C>A	ENST00000395066.3	+	2	1020	c.559C>A	c.(559-561)Cga>Aga	p.R187R	CLK3_ENST00000348245.3_Silent_p.R39R|CLK3_ENST00000352989.5_Silent_p.R39R|CLK3_ENST00000345005.4_Silent_p.R39R	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	187	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						ATACCCGTCCCGAAGGGAGCC	0.592													4	121	---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100821478	100821478	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr15:100821478C>A	ENST00000268070.4	-	4	850	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	249	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCCTCGGCCCCGTGGTACTGC	0.652													4	109	---	---	---	---
MPG	4350	broad.mit.edu	37	16	133168	133168	+	Missense_Mutation	SNP	C	C	A	rs139123111		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:133168C>A	ENST00000219431.4	+	4	664	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	MPG_ENST00000397817.1_Missense_Mutation_p.R128S	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	145					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GCAGACCCCCCGCAACCGAGG	0.602								Base excision repair (BER), DNA glycosylases					6	250	---	---	---	---
SYT17	51760	broad.mit.edu	37	16	19195180	19195180	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:19195180G>A	ENST00000562034.1	+	3	4277	c.479G>A	c.(478-480)cGc>cAc	p.R160H	SYT17_ENST00000568115.1_Missense_Mutation_p.R160H|SYT17_ENST00000355377.2_Missense_Mutation_p.R221H|SYT17_ENST00000562711.2_Missense_Mutation_p.R217H			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	221						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GATGGCTCGCGCCAGGACATG	0.612													7	221	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55363122	55363122	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:55363122G>T	ENST00000290552.7	+	5	2564	c.1232G>T	c.(1231-1233)gGa>gTa	p.G411V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	411						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AAAGCCTTTGGAAACCCCAAG	0.622													49	80	---	---	---	---
GALNS	2588	broad.mit.edu	37	16	88904133	88904133	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:88904133C>T	ENST00000268695.5	-	5	551	c.463G>A	c.(463-465)Gga>Aga	p.G155R	GALNS_ENST00000542788.1_Missense_Mutation_p.G80R	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	155			G -> E (in MPS4A).|G -> R (in MPS4A; severe form).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	TCATCAAATCCGTGCTTCAGG	0.572													49	64	---	---	---	---
SCIMP	388325	broad.mit.edu	37	17	5126630	5126630	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:5126630C>A	ENST00000574081.1	-	2	247	c.143G>T	c.(142-144)cGa>cTa	p.R48L	RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Intron|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.R48L|SCIMP_ENST00000399600.4_Intron	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN	SLP adaptor and CSK interacting membrane protein	48						integral to membrane											GCCATTACCTCGTCTAAGCTG	0.512													7	511	---	---	---	---
PIPOX	51268	broad.mit.edu	37	17	27380589	27380589	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:27380589C>A	ENST00000323372.4	+	4	962	c.636C>A	c.(634-636)ccC>ccA	p.P212P	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	212					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TCCTCCGTCCCCTGGGCATTG	0.557													5	68	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40849614	40849614	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:40849614C>A	ENST00000264638.4	+	22	3828	c.3611C>A	c.(3610-3612)cCa>cAa	p.P1204Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1204	Laminin G-like 4.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.P1204R(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TACAACACCCCAGGTTTCTCA	0.582													5	110	---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40939533	40939533	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:40939533C>A	ENST00000246914.5	+	7	1735	c.1714C>A	c.(1714-1716)Cgc>Agc	p.R572S	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	572					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTCCTTTTCCGCCACGCCAG	0.617													9	233	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696431	47696431	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:47696431C>G	ENST00000393331.3	-	7	862	c.392G>C	c.(391-393)tGg>tCg	p.W131S	SPOP_ENST00000504102.1_Missense_Mutation_p.W131S|SPOP_ENST00000393328.2_Missense_Mutation_p.W131S|SPOP_ENST00000503676.1_Missense_Mutation_p.W131S|SPOP_ENST00000347630.2_Missense_Mutation_p.W131S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGAATCCCCAGTCTTTGCC	0.453										Prostate(2;0.17)			77	106	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49054554	49054554	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:49054554C>A	ENST00000262013.7	-	27	3646	c.3438G>T	c.(3436-3438)gtG>gtT	p.V1146V	SPAG9_ENST00000505279.1_Silent_p.V1136V|SPAG9_ENST00000357122.4_Silent_p.V1132V|SPAG9_ENST00000510283.1_Silent_p.V989V	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1146					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTAATTCTCACAAAAGAGA	0.388													6	161	---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2114785	2114785	+	Silent	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:2114785G>T	ENST00000355272.6	-	21	2591	c.2385C>A	c.(2383-2385)ccC>ccA	p.P795P	AP3D1_ENST00000356926.4_Silent_p.P704P|AP3D1_ENST00000345016.5_Silent_p.P795P|AP3D1_ENST00000350812.6_Silent_p.P626P	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	795					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)		AGGGGTCGTTGGGGTCTTTGT	0.567													5	114	---	---	---	---
CAMSAP3	57662	broad.mit.edu	37	19	7670124	7670124	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:7670124C>A	ENST00000446248.2	+	2	262	c.161C>A	c.(160-162)cCg>cAg	p.P54Q	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P54Q	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	54					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CACGTGCCCCCGGAGCTGTGG	0.622													6	291	---	---	---	---
UQCRFS1	7386	broad.mit.edu	37	19	29698722	29698722	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:29698722C>A	ENST00000304863.4	-	2	980	c.558G>T	c.(556-558)caG>caT	p.Q186H		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	186					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CTGCAGCTTCCTGCTCAATTT	0.438													7	313	---	---	---	---
U2AF1L4	199746	broad.mit.edu	37	19	36234735	36234735	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:36234735G>A	ENST00000412391.2	-	7	566	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F|AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Silent_p.S126S			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	185					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCCCATAGAGCTGCCTCTGG	0.572													7	13	---	---	---	---
SAMD4B	55095	broad.mit.edu	37	19	39866397	39866397	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:39866397C>A	ENST00000314471.6	+	7	1810	c.775C>A	c.(775-777)Cgg>Agg	p.R259R	SAMD4B_ENST00000596368.1_Silent_p.R259R|SAMD4B_ENST00000598913.1_Silent_p.R259R	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	259							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCTTGGGGCCCGGGCTGCTTT	0.647													6	208	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42840497	42840497	+	Splice_Site	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:42840497C>A	ENST00000334370.4	+	6	1878	c.1243C>A	c.(1243-1245)Cgg>Agg	p.R415R	MEGF8_ENST00000251268.6_Splice_Site_p.R415R	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	415						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCCACTGCCCGGTAAGTGAC	0.637													3	34	---	---	---	---
FOXA3	3171	broad.mit.edu	37	19	46375372	46375372	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:46375372C>A	ENST00000302177.2	+	2	306	c.109C>A	c.(109-111)Ctc>Atc	p.L37I		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	37					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CATGGCCCCCCTCAACTCCTA	0.642													6	118	---	---	---	---
C5AR1	728	broad.mit.edu	37	19	47823991	47823991	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:47823991C>A	ENST00000355085.3	+	2	979	c.957C>A	c.(955-957)ctC>ctA	p.L319L		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	319					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCAGCCTCCTCCGGAACGTGT	0.592													5	125	---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49107168	49107168	+	Splice_Site	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:49107168G>A	ENST00000263266.3	-	4	948	c.759C>T	c.(757-759)agC>agT	p.S253S		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	253										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCACGTGAAGCTGGGGGTCG	0.662													27	36	---	---	---	---
KLK4	9622	broad.mit.edu	37	19	51412631	51412631	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:51412631C>T	ENST00000324041.1	-	2	100	c.101G>A	c.(100-102)gGc>gAc	p.G34D		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	34	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCAGTCCTCGCCGTTTATGAT	0.647													158	180	---	---	---	---
KLK5	25818	broad.mit.edu	37	19	51453323	51453323	+	Silent	SNP	G	G	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:51453323G>A	ENST00000336334.3	-	3	475	c.123C>T	c.(121-123)acC>acT	p.T41T	KLK5_ENST00000593428.1_Silent_p.T41T|KLK5_ENST00000391809.2_Silent_p.T41T	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	41				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CAGAGGGCACGGTGTTAGAGG	0.622													17	20	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54755937	54755937	+	Missense_Mutation	SNP	C	C	A	rs144185169	byFrequency	TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:54755937C>A	ENST00000450632.1	-	12	1659	c.1582G>T	c.(1582-1584)Ggg>Tgg	p.G528W	LILRB5_ENST00000316219.5_Missense_Mutation_p.G536W|LILRB5_ENST00000449561.2_Missense_Mutation_p.G537W|LILRB5_ENST00000345866.6_Missense_Mutation_p.G437W			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	536					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCTCCACCCCGTCCTTGGGC	0.627													5	225	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56459478	56459478	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:56459478C>A	ENST00000291971.3	+	1	281	c.210C>A	c.(208-210)ccC>ccA	p.P70P	NLRP8_ENST00000590542.1_Silent_p.P70P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	70	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCACCATGCCCATCACCTGGG	0.542													4	42	---	---	---	---
ZNF549	256051	broad.mit.edu	37	19	58049137	58049137	+	Silent	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:58049137C>A	ENST00000376233.3	+	4	946	c.765C>A	c.(763-765)tcC>tcA	p.S255S	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Silent_p.S242S|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGGGAAATCCTTGAACTCTA	0.368													5	102	---	---	---	---
SIRPB1	10326	broad.mit.edu	37	20	1551529	1551529	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:1551529C>A	ENST00000381605.4	-	4	1070	c.1006G>T	c.(1006-1008)Ggg>Tgg	p.G336W	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	336	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCTTGCTGCCCATCATGCTCC	0.547													7	177	---	---	---	---
AHCY	191	broad.mit.edu	37	20	32878543	32878543	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:32878543T>C	ENST00000538132.1	-	6	1062	c.676A>G	c.(676-678)Atg>Gtg	p.M226V	AHCY_ENST00000217426.2_Missense_Mutation_p.M254V	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	254					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTACCCTCCATGGCAGCCTGC	0.632													86	102	---	---	---	---
GGT7	2686	broad.mit.edu	37	20	33448108	33448108	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:33448108C>A	ENST00000336431.5	-	5	736	c.692G>T	c.(691-693)gGg>gTg	p.G231V		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	231					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCCGGGAACCCCCACCAAGAG	0.642													5	81	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50776704	50776704	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:50776704G>T	ENST00000216923.4	-	5	1070	c.721C>A	c.(721-723)Cgc>Agc	p.R241S	ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371515.4_Missense_Mutation_p.R239S|ZFP64_ENST00000346617.4_Missense_Mutation_p.R187S|ZFP64_ENST00000361387.2_Missense_Mutation_p.R241S|ZFP64_ENST00000371518.2_Missense_Mutation_p.R241S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGAGTTGCGGCTGGCGTAG	0.577													6	154	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30331780	30331780	+	Splice_Site	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr21:30331780C>A	ENST00000389194.2	-	13	2736	c.2731G>T	c.(2731-2733)Gat>Tat	p.D911Y	LTN1_ENST00000361371.5_Splice_Site_p.D865Y	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	865							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AGGCTATTACCTGGCAAATGT	0.388													6	229	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33297008	33297008	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr21:33297008C>A	ENST00000270112.2	+	2	850	c.490C>A	c.(490-492)Cgc>Agc	p.R164S		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	164	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTCCGAAGCCCGCAGATACAT	0.597													4	135	---	---	---	---
MX1	4599	broad.mit.edu	37	21	42817984	42817984	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr21:42817984G>T	ENST00000398600.2	+	15	2214	c.1189G>T	c.(1189-1191)Ggg>Tgg	p.G397W	MX1_ENST00000398598.3_Missense_Mutation_p.G397W|MX1_ENST00000455164.2_Missense_Mutation_p.G397W|MX1_ENST00000288383.6_Missense_Mutation_p.G374W	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	397					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGAAACTGTAGGGGAGGAAGA	0.403													5	95	---	---	---	---
ARMCX2	9823	broad.mit.edu	37	X	100912074	100912074	+	Silent	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chrX:100912074G>T	ENST00000328766.5	-	5	954	c.501C>A	c.(499-501)ccC>ccA	p.P167P	ARMCX2_ENST00000356824.4_Silent_p.P167P|ARMCX2_ENST00000330154.2_Silent_p.P167P	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	167	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCGCTTCTCTGGGAGCTTCTG	0.647													4	68	---	---	---	---
RAB40A	142684	broad.mit.edu	37	X	102755042	102755042	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chrX:102755042G>T	ENST00000372633.1	-	1	2761	c.643C>A	c.(643-645)Ccc>Acc	p.P215T	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.P215T			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	215	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AAGGTACTGGGGAGCGGGAGC	0.597													5	92	---	---	---	---
SSB	6741	broad.mit.edu	37	2	170667531	170667531	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:170667531delC	ENST00000409333.1	+	10	1221	c.974delC	c.(973-975)tccfs	p.S325fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.S325fs|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	325					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CAACAAGAATCCCTAAACAAA	0.343													23	10	---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11076736	11076738	+	Splice_Site	DEL	TCT	TCT	-			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:11076736_11076738delTCT	ENST00000409790.1	+	10	1189_1191	c.959_961delTCT	c.(958-963)gtcttc>gtc	p.F321del	CLEC16A_ENST00000409552.3_Splice_Site_p.F319del	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	321										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTCCGCCAGGTCTTCTTAATTAT	0.448													18	36	---	---	---	---
