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
METTL25	84190	broad.mit.edu	37	12	82850504	82850504	+	Splice_Site	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:82850504A>T	ENST00000248306.3	+	9	1547		c.e9-1		METTL25_ENST00000547357.1_Splice_Site	NM_032230.2	NP_115606.2			methyltransferase like 25																		TTTGTTTTACAGTGATCGGCA	0.284000													4	6					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73964917	73964917	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:73964917G>T	ENST00000553558.1	-	14	2809	c.2488C>A	c.(2488-2490)Cgg>Agg	p.R830R	HEATR4_ENST00000560393.1_Silent_p.R783R|HEATR4_ENST00000334988.2_Silent_p.R830R	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCCCTGACCCGGTCCCCTTGA	0.542000													19	32					1.96292e-10	2.7082e-10	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238280540	238280540	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:238280540C>T	ENST00000295550.4	-	9	4572	c.4120G>A	c.(4120-4122)Gac>Aac	p.D1374N	COL6A3_ENST00000346358.4_Missense_Mutation_p.D1174N|COL6A3_ENST00000472056.1_Missense_Mutation_p.D767N|COL6A3_ENST00000392004.3_Missense_Mutation_p.D1168N|COL6A3_ENST00000347401.3_Missense_Mutation_p.D1173N|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1168N|COL6A3_ENST00000392003.2_Missense_Mutation_p.D967N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1168N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1374	Nonhelical region.|VWFA 7.				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)		TCCTCCTGGTCTGCGTTCCTG	0.612000													56	49					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135418831	135418831	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:135418831G>T	ENST00000338588.3	-	3	679	c.414C>A	c.(412-414)gcC>gcA	p.A138A	FAM180A_ENST00000415751.1_Silent_p.A138A	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	138						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CGTGGGACAGGGCTGTGCGGT	0.622000													36	68					6.53348e-20	1.10461e-19	1	1	0
RYR3	6263	broad.mit.edu	37	15	34105726	34105726	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:34105726G>T	ENST00000389232.4	+	74	10518	c.10448G>T	c.(10447-10449)cGg>cTg	p.R3483L	RYR3_ENST00000415757.3_Missense_Mutation_p.R3478L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3483					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAAAGCAACGGAAACGGGCA	0.512000													17	71					1.67942e-08	2.16428e-08	1	1	0
C20orf96	140680	broad.mit.edu	37	20	264623	264623	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:264623G>A	ENST00000360321.2	-	4	425	c.287C>T	c.(286-288)gCc>gTc	p.A96V	C20orf96_ENST00000400269.3_Missense_Mutation_p.A38V|C20orf96_ENST00000382369.5_Missense_Mutation_p.A61V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	96										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCAGATTTTGGCATGCATCTT	0.517000													34	56					0	0	1	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363079	22363079	+	RNA	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:22363079A>T	ENST00000390438.2	+	0	338																											TGAAGTACACATCAGCGGCCA	0.498000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	118					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012135	160012135	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:160012135T>G	ENST00000368089.3	-	2	414	c.188A>C	c.(187-189)cAg>cCg	p.Q63P		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	63						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTAGCGCCACTGCATGTCAAT	0.542000													35	65					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992864	28992864	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:28992864G>C	ENST00000359747.4	+	15	2515	c.2486G>C	c.(2485-2487)gGa>gCa	p.G829A	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G810A	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	810					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACCACGAGGGAGTCGGGTCT	0.413000													16	45					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045874	9045874	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:9045874G>T	ENST00000397910.4	-	5	35960	c.35757C>A	c.(35755-35757)aaC>aaA	p.N11919K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11921	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						AGGTTTCTGTGTTCCAGGAGG	0.498000													37	29					1.90571e-15	3.0127e-15	1	1	0
EPHB2	2048	broad.mit.edu	37	1	23238959	23238959	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:23238959C>A	ENST00000400191.3	+	15	2737	c.2719C>A	c.(2719-2721)Cgc>Agc	p.R907S	EPHB2_ENST00000374627.1_Missense_Mutation_p.R902S|EPHB2_ENST00000374630.3_Missense_Mutation_p.R907S|EPHB2_ENST00000374632.3_Missense_Mutation_p.R908S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	907					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCTGCTGGACCGCACGATCCC	0.622000													21	51					1.87028e-06	2.19933e-06	1	1	0
TENM3	55714	broad.mit.edu	37	4	183696210	183696210	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:183696210G>A	ENST00000511685.1	+	24	5331	c.5208G>A	c.(5206-5208)atG>atA	p.M1736I	TENM3_ENST00000406950.2_Missense_Mutation_p.M1736I					teneurin transmembrane protein 3																		AAAGAAACATGACTTTGCCTG	0.527000													15	37					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38679738	38679738	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:38679738G>A	ENST00000267377.2	+	3	1761	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	382					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CTTCCGTAATGGCACCTGCAC	0.652000													13	83					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35044956	35044956	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:35044956T>C	ENST00000290374.4	-	2	1165	c.689A>G	c.(688-690)gAg>gGg	p.E230G		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	230					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCGGTTACACTCATACAACCC	0.473000													10	30					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097712	43097712	+	Silent	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:43097712A>T	ENST00000244336.5	-	2	506	c.405T>A	c.(403-405)acT>acA	p.T135T	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	135	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TGAACTGGCCAGTTACTTCTT	0.507000													15	91					0	0	1	0	0
EXOSC2	23404	broad.mit.edu	37	9	133569301	133569301	+	Splice_Site	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:133569301G>C	ENST00000372358.5	+	1	193		c.e1+1		EXOSC2_ENST00000546165.1_Splice_Site|EXOSC2_ENST00000372352.3_Splice_Site|EXOSC2_ENST00000372351.3_Splice_Site			Q13868	EXOS2_HUMAN	exosome component 2						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)		GATTCATGCGGTACGTGGGGA	0.602000													16	39					0	0	1	0	0
TXNDC9	10190	broad.mit.edu	37	2	99936242	99936242	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:99936242G>A	ENST00000264255.3	-	5	839	c.584C>T	c.(583-585)cCa>cTa	p.P195L	C2orf15_ENST00000465095.1_Intron	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	195					cell redox homeostasis		protein binding			lung(1)	1						GTTCTGAAATGGTGGCTCCAT	0.294000													6	12					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49360085	49360085	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:49360085G>A	ENST00000301061.4	-	5	1311	c.963C>T	c.(961-963)gaC>gaT	p.D321D	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	321					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CCATAGTGGGGTCTCGCTCAC	0.632000													27	132					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2541198	2541198	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:2541198C>A	ENST00000288709.6	-	5	578	c.338G>T	c.(337-339)gGc>gTc	p.G113V	MMEL1_ENST00000502556.1_Missense_Mutation_p.G122V|MMEL1_ENST00000378412.3_Missense_Mutation_p.G122V	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	122					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCGCAGCCAGCCTCCGCATGC	0.607000													10	109					5.16669e-11	7.30014e-11	1	1	0
ZSWIM3	140831	broad.mit.edu	37	20	44507237	44507237	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:44507237G>T	ENST00000255152.2	+	2	2249	c.2040G>T	c.(2038-2040)aaG>aaT	p.K680N	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.K674N	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	680							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TCTGGGGAAAGCAAGAAGAAG	0.527000													54	107					3.4597e-24	6.12211e-24	1	1	0
DCDC2B	149069	broad.mit.edu	37	1	32678382	32678382	+	Silent	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:32678382C>G	ENST00000409358.1	+	6	702	c.702C>G	c.(700-702)ccC>ccG	p.P234P		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	234					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGTCTAGGCCCCACAGGCAGG	0.567000													27	101					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504354	16504354	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:16504354G>A	ENST00000304523.5	-	8	1357	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.A343V	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	345							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GTTCCCCAGCGCGGGTGAATT	0.532000													38	111					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519690	113519690	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:113519690C>G	ENST00000284601.3	-	4	1525	c.1457G>C	c.(1456-1458)cGa>cCa	p.R486P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	486					glycogen metabolic process	integral to membrane		p.R486Q(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAAATCTCTTCGTAAACATCC	0.363000													8	38					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963380	73963380	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:73963380A>G	ENST00000373468.1	-	3	1663	c.1012T>C	c.(1012-1014)Ttt>Ctt	p.F338L	KIAA2022_ENST00000055682.5_Missense_Mutation_p.F338L			Q5QGS0	K2022_HUMAN	KIAA2022	338					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACGCTGGGAAAAAAGTTGAAT	0.463000													9	41					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65008401	65008401	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:65008401C>A	ENST00000247207.6	+	1	1216	c.834C>A	c.(832-834)agC>agA	p.S278R	HSPA2_ENST00000394709.1_Missense_Mutation_p.S278R	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	278					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCACCCTGAGCTCGTCCACGC	0.652000													19	59					5.03518e-11	7.12995e-11	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158592846	158592846	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:158592846C>A	ENST00000368148.3	-	43	6227	c.6047G>T	c.(6046-6048)cGc>cTc	p.R2016L	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R2013L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2016					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R2016H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGTTCCCAGCGCTTCAGCAG	0.478000													52	144					5.13769e-22	8.96836e-22	1	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107423250	107423250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:107423250C>A	ENST00000409382.3	-	6	2084	c.1474G>T	c.(1474-1476)Gtg>Ttg	p.V492L	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.V492L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	492					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGGCGCTGCACCAGGAGCTTC	0.627000													26	116					8.16721e-17	1.31861e-16	1	1	0
C3orf30	152405	broad.mit.edu	37	3	118865570	118865570	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:118865570C>A	ENST00000295622.1	+	1	574	c.534C>A	c.(532-534)acC>acA	p.T178T		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	178										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CCAGACAGACCGACCACAGAA	0.527000													15	83					1.05317e-09	1.41815e-09	1	1	0
ZBTB46	140685	broad.mit.edu	37	20	62407222	62407222	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:62407222C>A	ENST00000245663.4	-	3	1181	c.1031G>T	c.(1030-1032)gGa>gTa	p.G344V	ZBTB46_ENST00000302995.2_Missense_Mutation_p.G344V|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G344V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCTGGCTTCTCCTCCCAGGAG	0.667000													25	100					7.92952e-12	1.14291e-11	1	1	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390454	52390454	+	RNA	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:52390454G>C	ENST00000443374.1	+	0	1147																											TCGGCGGCCAGGTGCTTTTGT	0.423000													32	11					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10405245	10405245	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:10405245C>G	ENST00000221980.4	+	9	2222	c.2159C>G	c.(2158-2160)gCg>gGg	p.A720G		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	720	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGAGAGGACGCGGGCACTTAC	0.701000													24	43					0	0	1	0	0
TTC1	7265	broad.mit.edu	37	5	159492030	159492030	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:159492030G>A	ENST00000231238.5	+	8	947	c.837G>A	c.(835-837)tcG>tcA	p.S279S	TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Silent_p.S279S	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	279					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CTACCGGCTCGTACTCCATCA	0.393000													17	30					0	0	1	0	0
SLC25A39	51629	broad.mit.edu	37	17	42398482	42398482	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:42398482C>A	ENST00000225308.8	-	8	785	c.611G>T	c.(610-612)tGg>tTg	p.W204L	SLC25A39_ENST00000377095.5_Missense_Mutation_p.W212L|SLC25A39_ENST00000586016.1_Missense_Mutation_p.W80L|SLC25A39_ENST00000537904.2_Missense_Mutation_p.W189L|SLC25A39_ENST00000590194.1_Missense_Mutation_p.W204L	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	212					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGTGAGCGCCAGCCACCCTG	0.647000													11	39					0.00829132	0.00864656	1	1	0
ITGB6	3694	broad.mit.edu	37	2	160994645	160994645	+	Silent	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:160994645T>A	ENST00000283249.2	-	9	1410	c.1173A>T	c.(1171-1173)acA>acT	p.T391T	ITGB6_ENST00000409967.2_Silent_p.T391T|ITGB6_ENST00000428609.2_Silent_p.T349T|ITGB6_ENST00000409872.1_Silent_p.T391T			P18564	ITB6_HUMAN	integrin, beta 6	391					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TACAGATGGCTGTAAATGACA	0.433000													55	83					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156923986	156923986	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:156923986T>C	ENST00000257527.4	-	14	1588	c.1510A>G	c.(1510-1512)Acc>Gcc	p.T504A	ADAM19_ENST00000430702.2_Missense_Mutation_p.T237A|ADAM19_ENST00000517905.1_Missense_Mutation_p.T504A|ADAM19_ENST00000394020.1_Missense_Mutation_p.T506A	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	504	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCACAGGGGGTACCATCCATC	0.642000													10	12					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4799509	4799509	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:4799509C>T	ENST00000355280.6	+	29	3683	c.3487C>T	c.(3487-3489)Cgc>Tgc	p.R1163C	MINK1_ENST00000453408.3_Missense_Mutation_p.R1143C|MINK1_ENST00000347992.7_Missense_Mutation_p.R1134C	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1163	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCTCCCCCACCGCCCTCTGCT	0.642000											OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	63					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37841687	37841687	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:37841687G>T	ENST00000381967.4	+	6	625		c.e6-1		PGM2_ENST00000537241.1_Splice_Site|PGM2_ENST00000544359.1_Splice_Site	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2						glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GGGTCCTCTAGGTCTATTGGG	0.418000													19	47					1.33834e-09	1.78722e-09	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62292738	62292738	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:62292738G>A	ENST00000378024.4	-	5	9425	c.9151C>T	c.(9151-9153)Ctt>Ttt	p.L3051F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3051					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)				GAGACATCAAGGTCAGCCTTG	0.488000													59	122					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109895530	109895530	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:109895530C>G	ENST00000399132.1	-	8	1015	c.485G>C	c.(484-486)gGa>gCa	p.G162A	COL25A1_ENST00000399126.1_Missense_Mutation_p.G162A|COL25A1_ENST00000399127.1_Missense_Mutation_p.G162A	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	162	Collagen-like 1.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TACCCTAGGTCCCTGATCACC	0.373000													13	25					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6712896	6712896	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:6712896C>G	ENST00000377577.5	-	6	746	c.623G>C	c.(622-624)tGg>tCg	p.W208S	DNAJC11_ENST00000349363.6_Missense_Mutation_p.W170S|DNAJC11_ENST00000542246.1_Missense_Mutation_p.W170S|DNAJC11_ENST00000294401.7_Missense_Mutation_p.W208S|DNAJC11_ENST00000377573.5_Missense_Mutation_p.W118S	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	208					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTCTCCCCATCCCTTTGC	0.478000													7	89					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61602215	61602215	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:61602215G>T	ENST00000238508.3	+	8	992	c.933G>T	c.(931-933)atG>atT	p.M311I	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GTATGGGGATGAGTGATGCCT	0.428000													8	23					5.18039e-06	6.00963e-06	1	1	0
AAR2	25980	broad.mit.edu	37	20	34843629	34843629	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:34843629G>A	ENST00000373932.3	+	4	1463	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	AAR2_ENST00000320849.4_Missense_Mutation_p.V373M|AAR2_ENST00000397286.3_Intron	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		CTGTGCCCCGGTGGTGGTGGA	0.622000													50	94					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178861443	178861443	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:178861443G>T	ENST00000367635.3	+	15	1663		c.e15+1		RALGPS2_ENST00000477383.1_Intron|RALGPS2_ENST00000324778.4_Splice_Site|RALGPS2_ENST00000367634.2_Intron	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2						small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGGCCAGCAGGTACAATTCCC	0.453000													17	43					2.23348e-06	2.60978e-06	1	1	0
ZNF235	9310	broad.mit.edu	37	19	44791599	44791599	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:44791599T>A	ENST00000291182.4	-	5	2091	c.1989A>T	c.(1987-1989)gaA>gaT	p.E663D	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TCCAACTGAATTCTTTCCCAC	0.488000													22	74					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11502192	11502192	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:11502192C>A	ENST00000262442.3	+	1	445	c.377C>A	c.(376-378)cCc>cAc	p.P126H	DNAH9_ENST00000454412.2_Missense_Mutation_p.P126H|DNAH9_ENST00000579828.1_Missense_Mutation_p.P126H|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	126	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGGACCTGCCCGCGGCACCT	0.706000													6	3					0.0215528	0.0221186	1	1	0
TNR	7143	broad.mit.edu	37	1	175372437	175372437	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:175372437C>A	ENST00000367674.1	-	4	1523	c.815G>T	c.(814-816)gGg>gTg	p.G272V	TNR_ENST00000263525.2_Missense_Mutation_p.G272V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	272	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTCCCCTTCCCCGAACAGTC	0.637000													25	73					7.87624e-14	1.19534e-13	1	1	0
CDH11	1009	broad.mit.edu	37	16	65032573	65032573	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:65032573G>T	ENST00000394156.3	-	4	868	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	CDH11_ENST00000566827.1_Missense_Mutation_p.L13M|CDH11_ENST00000268603.4_Missense_Mutation_p.L139M			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	139	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGTGGCTCCAGTGGCCGATTG	0.547000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			6	72					0.248553	0.249326	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112203	248112203	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248112203G>T	ENST00000357191.3	+	1	44	c.44G>T	c.(43-45)gGg>gTg	p.G15V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATCTTATTGGGGCTGTTTCCA	0.373000													17	105					2.48551e-13	3.6939e-13	1	1	0
CRYGC	1420	broad.mit.edu	37	2	208994275	208994275	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:208994275G>T	ENST00000282141.3	-	2	179	c.142C>A	c.(142-144)Cgt>Agt	p.R48S		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	48	Beta/gamma crystallin 'Greek key' 2.		R -> H.		visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	p.R48S(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TAGTTGGGACGCTCATAGAGC	0.597000													36	324					3.6622e-26	6.6445e-26	1	1	0
EPB42	2038	broad.mit.edu	37	15	43513015	43513015	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:43513015C>A	ENST00000300215.3	-	1	466	c.9G>T	c.(7-9)caG>caT	p.Q3H	EPB42_ENST00000540029.1_Splice_Site_p.Q3_splice|EPB42_ENST00000441366.2_Splice_Site_p.Q3_splice			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	0					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TTGGCTCACCCTGTCCCATGG	0.577000													29	81					1.04121e-07	1.30152e-07	1	1	0
CLASRP	11129	broad.mit.edu	37	19	45567306	45567306	+	Silent	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:45567306C>G	ENST00000544944.2	+	11	1634	c.942C>G	c.(940-942)cgC>cgG	p.R314R	CLASRP_ENST00000221455.3_Silent_p.R314R|CLASRP_ENST00000391953.4_Silent_p.R252R			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	314					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCGCTCCCGCTCCCGCTCCC	0.682000													12	43					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216219796	216219796	+	Missense_Mutation	SNP	C	C	A	rs111033268		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:216219796C>A	ENST00000366943.2	-	32	6688	c.6302G>T	c.(6301-6303)aGt>aTt	p.S2101I	USH2A_ENST00000307340.3_Missense_Mutation_p.S2101I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2101	Fibronectin type-III 7.				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)		GTTCTCCTCACTGCCTGAATA	0.398000										HNSCC(13;0.011)			9	45					0.010729	0.0111168	1	1	0
DCLK3	85443	broad.mit.edu	37	3	36756822	36756822	+	Silent	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:36756822T>C	ENST00000416516.2	-	5	2434	c.1944A>G	c.(1942-1944)tcA>tcG	p.S648S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	648						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTGGTGACTATGATACCTGCT	0.512000													7	18					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4774905	4774905	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:4774905G>T	ENST00000302640.8	+	42	5658		c.e42+1		ITPR1_ENST00000456211.2_Splice_Site|ITPR1_ENST00000443694.2_Splice_Site|ITPR1_ENST00000423119.2_Splice_Site|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Splice_Site|ITPR1_ENST00000357086.4_Splice_Site	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1						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)		GGGGGAGGAGGTACGCTTTGT	0.507000													5	19					1.23904e-05	1.41573e-05	1	1	0
MYL1	4632	broad.mit.edu	37	2	211179714	211179714	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:211179714G>T	ENST00000352451.3	-	1	200	c.53C>A	c.(52-54)cCa>cAa	p.P18Q		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	18					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		tgccggggctggggcAGCCGC	0.498000													207	187					4.50234e-86	8.8672e-86	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34035141	34035141	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:34035141G>T	ENST00000373381.4	-	52	8140	c.7964C>A	c.(7963-7965)tCc>tAc	p.S2655Y		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2657	Sushi 16.					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)				CTCTCCACAGGAGATGACTAA	0.517000													10	39					3.86212e-05	4.28386e-05	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124351940	124351940	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:124351940G>T	ENST00000338354.3	+	20	2435	c.2329G>T	c.(2329-2331)Ggc>Tgc	p.G777C	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.G767C|DMBT1_ENST00000344338.3_Missense_Mutation_p.G767C|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G777C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	777	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGGGCTGTGGCTGGGCCAC	0.617000													188	120					1.81183e-85	3.56289e-85	1	1	0
CCKBR	887	broad.mit.edu	37	11	6291447	6291447	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:6291447C>T	ENST00000525462.1	+	3	536	c.533C>T	c.(532-534)aCg>aTg	p.T178M	CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.T178M|CCKBR_ENST00000532715.1_Missense_Mutation_p.T94M			P32239	GASR_HUMAN	cholecystokinin B receptor	142					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ATTGTAGCCACGTGGCTGCTG	0.657000													25	54					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25940198	25940198	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:25940198C>T	ENST00000356865.6	-	14	2967	c.2856G>A	c.(2854-2856)atG>atA	p.M952I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	952					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGAGAACCTCATGCTCACTT	0.607000													21	60					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152522697	152522697	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:152522697G>T	ENST00000397345.3	-	41	5140	c.4938C>A	c.(4936-4938)aaC>aaA	p.N1646K	NEB_ENST00000603639.1_Missense_Mutation_p.N1646K|NEB_ENST00000172853.10_Missense_Mutation_p.N1646K|NEB_ENST00000409198.1_Missense_Mutation_p.N1646K|NEB_ENST00000427231.2_Missense_Mutation_p.N1646K|NEB_ENST00000604864.1_Missense_Mutation_p.N1646K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1646					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)		TGTAGTTGGCGTTGGTGGCAA	0.493000													32	132					2.70662e-09	3.58107e-09	1	1	0
OLFM4	10562	broad.mit.edu	37	13	53617375	53617375	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:53617375G>T	ENST00000219022.2	+	4	784	c.706G>T	c.(706-708)Gtc>Ttc	p.V236F		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	236					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AAACACCCCTGTCGTCCACCC	0.517000													26	56					4.47668e-21	7.69989e-21	1	1	0
SIGLEC5	8778	broad.mit.edu	37	19	52130812	52130812	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:52130812G>A	ENST00000222107.4	-	6	1323	c.1185C>T	c.(1183-1185)tcC>tcT	p.S395S	SIGLEC5_ENST00000570106.2_Silent_p.S395S|SIGLEC5_ENST00000534261.2_Silent_p.S395S|SIGLEC5_ENST00000429354.3_Silent_p.S395S|SIGLEC5_ENST00000599649.1_Silent_p.S395S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	395					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGAGGATCAGGGAGCTGTTGG	0.637000													44	27					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45877968	45877968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:45877968G>T	ENST00000374391.2	+	2	241	c.188G>T	c.(187-189)gGc>gTc	p.G63V	ALOX5_ENST00000542434.1_Missense_Mutation_p.G63V	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	63	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.G63A(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GAGGAACTGGGCGAGATCCAG	0.552000													43	28					1.02591e-13	1.53707e-13	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56388361	56388361	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:56388361G>T	ENST00000301295.6	+	8	2947		c.e8-1		NLRP4_ENST00000346986.5_Splice_Site|NLRP4_ENST00000587891.1_Splice_Site	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4								ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTCCTTTGCAGTTTGGTAAAA	0.433000													54	43					5.22555e-25	9.33652e-25	1	1	0
KALRN	8997	broad.mit.edu	37	3	124053294	124053294	+	Silent	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:124053294G>C	ENST00000360013.3	+	9	1720	c.1593G>C	c.(1591-1593)cgG>cgC	p.R531R	KALRN_ENST00000240874.3_Silent_p.R531R|KALRN_ENST00000460856.1_Silent_p.R531R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	531					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAAGGTGCGGCTCCACCAGC	0.602000													34	51					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161519	141161519	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:141161519G>C	ENST00000514251.1	+	4	568	c.289G>C	c.(289-291)Gtt>Ctt	p.V97L	ZBTB38_ENST00000441582.2_Missense_Mutation_p.V97L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.V98L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	97	BTB.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTCCACAGTCGTTGTCAAGAG	0.433000													9	53					0	0	1	0	0
HEY1	23462	broad.mit.edu	37	8	80679289	80679289	+	Silent	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:80679289A>G	ENST00000337919.5	-	3	397	c.204T>C	c.(202-204)agT>agC	p.S68S	HEY1_ENST00000354724.3_Silent_p.S68S	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	68	Helix-loop-helix motif.|Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GCTCAGACAAACTGTTATTGA	0.443000			T	NCOA2	mesenchymal chondrosarcoma								7	79					0	0	1	0	0
ACAD8	27034	broad.mit.edu	37	11	134131010	134131010	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:134131010G>C	ENST00000281182.4	+	7	884	c.778G>C	c.(778-780)Ggg>Cgg	p.G260R	ACAD8_ENST00000543332.1_Missense_Mutation_p.G162R|ACAD8_ENST00000537423.1_Missense_Mutation_p.G183R|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000374752.4_Missense_Mutation_p.G133R	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	260					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CAACAGAATTGGGAGCGAGGG	0.582000													16	14					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124839504	124839504	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:124839504C>G	ENST00000423114.2	-	7	849	c.850G>C	c.(850-852)Ggc>Cgc	p.G284R	SLC12A8_ENST00000430155.2_Missense_Mutation_p.G56R|SLC12A8_ENST00000314584.7_Missense_Mutation_p.G8R|SLC12A8_ENST00000469902.1_Missense_Mutation_p.G255R|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000393469.4_Missense_Mutation_p.G255R			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	255					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CTGAGGTCGCCCCCCATGTTG	0.632000													12	28					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155263248	155263248	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:155263248G>T	ENST00000392414.3	-	8	1270	c.1157C>A	c.(1156-1158)gCg>gAg	p.A386E	PKLR_ENST00000342741.4_Missense_Mutation_p.A417E	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	417					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CATCTTCACCGCTTCCACAGG	0.557000													10	176					3.86212e-05	4.28386e-05	1	1	0
NKAIN4	128414	broad.mit.edu	37	20	61881424	61881424	+	Splice_Site	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:61881424C>G	ENST00000370316.3	-	2	144	c.54_splice	c.e2-1	p.V19_splice	NKAIN4_ENST00000370307.2_5'UTR|NKAIN4_ENST00000370313.1_5'UTR	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	19						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					AGGGCGGCGACCTAGGAGCAG	0.642000													5	8					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100811830	100811830	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:100811830A>T	ENST00000323346.5	+	11	1634	c.1321A>T	c.(1321-1323)Att>Ttt	p.I441F	SLC17A8_ENST00000392989.3_Missense_Mutation_p.I391F|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	441					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCACCTGGACATTGCCCCACG	0.473000													56	56					0	0	1	0	0
FHL2	2274	broad.mit.edu	37	2	106002890	106002890	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:106002890G>C	ENST00000409177.1	-	2	553	c.432C>G	c.(430-432)tgC>tgG	p.C144W	FHL2_ENST00000344213.4_Missense_Mutation_p.C138W|FHL2_ENST00000409807.1_Missense_Mutation_p.C28W|FHL2_ENST00000336660.5_Missense_Mutation_p.C28W|FHL2_ENST00000393353.3_Missense_Mutation_p.C28W|FHL2_ENST00000358129.4_Missense_Mutation_p.C28W|FHL2_ENST00000322142.8_Missense_Mutation_p.C28W|FHL2_ENST00000408995.1_Missense_Mutation_p.C28W|FHL2_ENST00000393352.3_Missense_Mutation_p.C28W|FHL2_ENST00000607522.1_Missense_Mutation_p.C28W			Q14192	FHL2_HUMAN	four and a half LIM domains 2	28	LIM zinc-binding 2.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AGCACACCACGCAGTAGGGGC	0.577000													60	58					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43262172	43262172	+	Missense_Mutation	SNP	A	A	C	rs143748376	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:43262172A>C	ENST00000404209.4	-	3	787	c.691T>G	c.(691-693)Ttc>Gtc	p.F231V	PSG8_ENST00000306511.4_Missense_Mutation_p.F231V|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.F109V|PSG8_ENST00000401467.2_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	231	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCAGGGTGAATGGGTCACTG	0.527000													18	194					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64497899	64497899	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:64497899G>C	ENST00000358025.3	+	45	7275	c.7045G>C	c.(7045-7047)Gct>Cct	p.A2349P	SYNE2_ENST00000344113.4_Missense_Mutation_p.A2349P|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.A2349P	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2349					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)		GCTTGCATCTGCTAAGCAGGA	0.393000													6	69					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992646	42992646	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:42992646C>T	ENST00000253408.5	-	1	274	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Missense_Mutation_p.R70Q|GFAP_ENST00000435360.2_Missense_Mutation_p.R70Q	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	70	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CATCTCTGCCCGCTCACTGGC	0.607000													51	57					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13768107	13768107	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:13768107G>A	ENST00000279593.3	-	7	1804	c.1595C>T	c.(1594-1596)aCa>aTa	p.T532I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	532					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACTGATGCCTGTCTCTATGAA	0.512000													35	23					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9714417	9714417	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:9714417C>A	ENST00000296003.4	+	7	848	c.726C>A	c.(724-726)ttC>ttA	p.F242L	MTMR14_ENST00000353332.5_Missense_Mutation_p.F242L|MTMR14_ENST00000351233.5_Missense_Mutation_p.F242L|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	242						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATGCCGACTTCACTCTCCTCT	0.537000													24	66					1.5548e-18	2.56811e-18	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124416650	124416650	+	Silent	SNP	T	T	C	rs144503939	by1000genomes	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:124416650T>C	ENST00000409039.3	+	75	12962	c.12937T>C	c.(12937-12939)Ttg>Ctg	p.L4313L	DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4313					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCAGTACATGTTGTGGGTAAG	0.547000													4	53					0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79684787	79684787	+	Splice_Site	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:79684787G>A	ENST00000331531.5	+	9	748	c.627_splice	c.e9-1	p.A210_splice	SLC25A10_ENST00000571730.1_Intron|SLC25A10_ENST00000541223.1_Intron|SLC25A10_ENST00000545862.1_Intron|SLC25A10_ENST00000350690.5_Intron	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	209					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TACCTGACAGGCCGCTGGTGA	0.652000													4	30					0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175979564	175979564	+	Silent	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:175979564T>A	ENST00000264110.2	-	8	778	c.480A>T	c.(478-480)acA>acT	p.T160T	ATF2_ENST00000409437.1_Intron|ATF2_ENST00000538946.1_Silent_p.T142T|ATF2_ENST00000487334.2_Silent_p.T142T|ATF2_ENST00000392544.1_Silent_p.T160T|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409833.1_Silent_p.T160T|ATF2_ENST00000345739.5_Silent_p.T102T|ATF2_ENST00000409635.1_Silent_p.T102T|ATF2_ENST00000426833.3_Silent_p.T142T	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	160					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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CAATAGCTGATGTGGGCTGTG	0.398000													69	49					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382628	22382628	+	Silent	SNP	C	C	T	rs111559452		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:22382628C>T	ENST00000328795.4	+	1	247	c.156C>T	c.(154-156)gaC>gaT	p.D52D	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TAAGGTCAGACCCTGGGCTCA	0.458000													17	77					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:14262129A>C	ENST00000340736.6	-	24	4278	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1327					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGGTCAGCACCCCCGGGCC	0.716000													4	19					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589430	136589430	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:136589430G>T	ENST00000531224.1	-	10	2519	c.2267C>A	c.(2266-2268)gCa>gAa	p.A756E	BCLAF1_ENST00000392348.2_Missense_Mutation_p.A754E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.A754E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A756E|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.A754E|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.A583E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	756	Poly-Ser.				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAAGGTGATGCTGAAGAGGA	0.338000													7	45					0.0293803	0.0300799	1	1	0
TGM2	7052	broad.mit.edu	37	20	36789911	36789911	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:36789911C>G	ENST00000361475.2	-	2	274	c.101G>C	c.(100-102)cGa>cCa	p.R34P	TGM2_ENST00000536724.1_Intron|TGM2_ENST00000536701.1_Missense_Mutation_p.R34P	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	34					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)	CTGGCCCCGTCGCACCACCAG	0.607000													70	109					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55912973	55912973	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:55912973G>T	ENST00000373965.2	-	15	2086	c.1692C>A	c.(1690-1692)atC>atA	p.I564I	PCDH15_ENST00000409834.1_Silent_p.I168I|PCDH15_ENST00000437009.1_Silent_p.I557I|PCDH15_ENST00000395430.1_Silent_p.I557I|PCDH15_ENST00000395446.1_Silent_p.I557I|PCDH15_ENST00000414778.1_Silent_p.I562I|PCDH15_ENST00000361849.3_Silent_p.I557I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Silent_p.I535I|PCDH15_ENST00000373955.1_Silent_p.I557I|PCDH15_ENST00000395433.1_Silent_p.I535I|PCDH15_ENST00000395438.1_Silent_p.I557I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.I564I|PCDH15_ENST00000395432.2_Silent_p.I520I|PCDH15_ENST00000320301.6_Silent_p.I557I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	557	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTATTGATGATGAAGTCTC	0.502000										HNSCC(58;0.16)			48	27					1.19451e-25	2.15212e-25	1	1	0
SIRPB1	10326	broad.mit.edu	37	20	1552473	1552473	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:1552473A>G	ENST00000381605.4	-	3	708	c.644T>C	c.(643-645)gTg>gCg	p.V215A	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	215	Ig-like C1-type 1.				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						ACGGGTCAGCACCACCCTGGC	0.567000													39	138					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829542	57829542	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:57829542G>T	ENST00000371030.2	+	5	4778	c.4778G>T	c.(4777-4779)aGa>aTa	p.R1593I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1593						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)					TTTCCTTCCAGAGGCCAGTAT	0.468000													41	60					5.20837e-25	9.33166e-25	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11726175	11726175	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:11726175C>A	ENST00000262442.3	+	48	9138	c.9070C>A	c.(9070-9072)Caa>Aaa	p.Q3024K	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q3024K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3024	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGTGTCAACCAAACATCCCA	0.423000													18	92					1.02788e-11	1.4733e-11	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108469079	108469079	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:108469079G>T	ENST00000263054.6	-	7	1052	c.1045C>A	c.(1045-1047)Cga>Aga	p.R349R	SORCS1_ENST00000344440.6_Silent_p.R349R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	349						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCTGCATTCGGCAAGTTAGA	0.413000													30	13					3.69857e-22	6.46497e-22	1	1	0
RNGTT	8732	broad.mit.edu	37	6	89600247	89600247	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:89600247G>T	ENST00000369485.4	-	8	1049	c.863C>A	c.(862-864)cCa>cAa	p.P288Q	RNGTT_ENST00000369475.3_Missense_Mutation_p.P288Q|RNGTT_ENST00000538899.1_Missense_Mutation_p.P228Q|RNGTT_ENST00000265607.6_Missense_Mutation_p.P288Q	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	288	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TACTTTGTATGGCTTCAGGTC	0.363000													13	21					0.00136819	0.00145146	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238280652	238280652	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:238280652G>T	ENST00000295550.4	-	9	4460	c.4008C>A	c.(4006-4008)gtC>gtA	p.V1336V	COL6A3_ENST00000346358.4_Silent_p.V1136V|COL6A3_ENST00000472056.1_Silent_p.V729V|COL6A3_ENST00000392004.3_Silent_p.V1130V|COL6A3_ENST00000347401.3_Silent_p.V1135V|COL6A3_ENST00000409809.1_Silent_p.V1130V|COL6A3_ENST00000392003.2_Silent_p.V929V|COL6A3_ENST00000353578.4_Silent_p.V1130V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1336	Nonhelical region.|VWFA 7.				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)		GGAACTGCGGGACGCCCTCTT	0.622000													9	52					1.12685e-05	1.29442e-05	1	1	0
MLLT4-AS1	653483	broad.mit.edu	37	6	168226271	168226271	+	RNA	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:168226271C>A	ENST00000359760.5	-	0	1118					NR_027906.1																						TCCAACCTCACTCTGTGAGAG	0.537000													12	26					3.07112e-06	3.58204e-06	1	1	0
RLF	6018	broad.mit.edu	37	1	40701729	40701729	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:40701729G>T	ENST00000372771.4	+	8	1382	c.1355G>T	c.(1354-1356)cGa>cTa	p.R452L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	452					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|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;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AATTCTCTTCGATGTGAGCTC	0.378000													25	75					6.32553e-13	9.347e-13	1	1	0
TRIM40	135644	broad.mit.edu	37	6	30114911	30114911	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:30114911G>T	ENST00000396581.1	+	4	977	c.591G>T	c.(589-591)agG>agT	p.R197S	TRIM40_ENST00000307859.4_Missense_Mutation_p.R168S|TRIM40_ENST00000376724.2_Missense_Mutation_p.R197S			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	197						intracellular	zinc ion binding			ovary(1)	1						ACATCTCCAGGGCAGTAACAC	0.572000													22	115					6.44725e-10	8.80101e-10	1	1	0
SLC1A6	6511	broad.mit.edu	37	19	15067397	15067397	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:15067397C>A	ENST00000430939.2	-	6	997	c.868G>T	c.(868-870)Gcc>Tcc	p.A290S	SLC1A6_ENST00000221742.3_Missense_Mutation_p.A354S|SLC1A6_ENST00000600144.1_Intron			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	354					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ACAATGCCGGCATGGAGGAAC	0.592000													10	29					0.000673444	0.000717969	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994325	140994325	+	Missense_Mutation	SNP	C	C	G	rs58254237	by1000genomes	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:140994325C>G	ENST00000285879.4	+	4	1421	c.1135C>G	c.(1135-1137)Ccc>Gcc	p.P379A	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	379							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGGGAGCCCCTCCTTCTC	0.473000										HNSCC(15;0.026)			88	24					0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366536	21366536	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:21366536T>G	ENST00000311048.7	+	5	1574	c.1430T>G	c.(1429-1431)aTt>aGt	p.I477S	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						CATAAGAGAATTCACACTGGA	0.358000													3	25					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767378	77767378	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:77767378G>T	ENST00000521891.2	+	10	8669	c.8221G>T	c.(8221-8223)Gat>Tat	p.D2741Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2696Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2715Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2696Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2696						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACTAAAATTGATCTATCAAG	0.398000										HNSCC(33;0.089)			18	27					6.94344e-10	9.40866e-10	1	1	0
DST	667	broad.mit.edu	37	6	56420452	56420452	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:56420452C>G	ENST00000370754.5	-	60	14733	c.14734G>C	c.(14734-14736)Gac>Cac	p.D4912H	DST_ENST00000244364.6_Missense_Mutation_p.D2320H|DST_ENST00000370788.2_Missense_Mutation_p.D2646H|DST_ENST00000446842.2_Missense_Mutation_p.D4408H|DST_ENST00000421834.2_Missense_Mutation_p.D2646H|DST_ENST00000370769.4_Missense_Mutation_p.D4734H|DST_ENST00000361203.3_Missense_Mutation_p.D4732H|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	4732					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)			ATGGCTTGGTCAATCCAGTCA	0.453000													15	38					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242144350	242144350	+	Silent	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:242144350G>C	ENST00000274979.8	+	10	1225	c.1122G>C	c.(1120-1122)ctG>ctC	p.L374L	ANO7_ENST00000402430.3_Silent_p.L373L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	374						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCTGCTTCCTGGTGTTCTCAG	0.642000													7	41					0	0	1	0	0
TAGLN3	29114	broad.mit.edu	37	3	111732274	111732274	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:111732274G>A	ENST00000393917.2	+	5	1028	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	TAGLN3_ENST00000478951.1_Missense_Mutation_p.R159Q|TAGLN3_ENST00000486460.1_Missense_Mutation_p.R75Q|TAGLN3_ENST00000273368.4_Missense_Mutation_p.R159Q|TAGLN3_ENST00000455401.2_Missense_Mutation_p.R159Q	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	159					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						CAGCAGAATCGGAGAGGCTTT	0.517000													23	35					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29375678	29375678	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:29375678G>T	ENST00000320081.5	+	9	1404	c.1149G>T	c.(1147-1149)acG>acT	p.T383T	CLIP4_ENST00000401617.2_Silent_p.T276T|CLIP4_ENST00000404424.1_Silent_p.T383T|CLIP4_ENST00000401605.1_Silent_p.T383T	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	383										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CTCATGTGACGTCAAAAGTAA	0.363000													19	6					1.00905e-13	1.51533e-13	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87645025	87645025	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:87645025C>G	ENST00000320005.5	-	11	1322	c.1275G>C	c.(1273-1275)ttG>ttC	p.L425F		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	425					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAAAAAAATTCAAGAGTTGAA	0.353000													10	18					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907601	164907601	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:164907601G>C	ENST00000475390.1	-	2	1461	c.1018C>G	c.(1018-1020)Cga>Gga	p.R340G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R340G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	340						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTTGGTGTTCGAGGCTGTTTG	0.483000										HNSCC(40;0.11)			34	115					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105937354	105937354	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:105937354G>T	ENST00000324342.3	+	1	287	c.122G>T	c.(121-123)aGc>aTc	p.S41I		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	58						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AATGAAACCAGCAACTACACT	0.373000													16	25					3.45872e-05	3.87641e-05	1	1	0
CDKL5	6792	broad.mit.edu	37	X	18668699	18668699	+	Silent	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:18668699A>T	ENST00000379989.3	+	21	3252	c.2967A>T	c.(2965-2967)ccA>ccT	p.P989P	RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Silent_p.P989P	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	989					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TCAGCTGCCCAACCCAGCAAT	0.587000													55	30					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9923167	9923167	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:9923167G>A	ENST00000396115.1	-	2	361	c.51C>T	c.(49-51)gtC>gtT	p.V17V	GAS7_ENST00000585266.1_Silent_p.V13V|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000432992.2_Silent_p.V77V|GAS7_ENST00000437099.2_Silent_p.V13V|GAS7_ENST00000542249.1_Silent_p.V22V|GAS7_ENST00000579158.1_Silent_p.V29V|GAS7_ENST00000540214.1_Silent_p.V13V|GAS7_ENST00000323816.4_Silent_p.V13V	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	77	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GTGGAAGGATGACCGTCTGGC	0.567000			T	MLL	AML*								51	57					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133640	119133640	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:119133640T>C	ENST00000264245.4	+	12	3396	c.2864T>C	c.(2863-2865)cTa>cCa	p.L955P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	955					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCCATTCTCTAGATAGCAAA	0.552000													48	154					0	0	1	0	0
STXBP6	29091	broad.mit.edu	37	14	25325156	25325156	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:25325156G>C	ENST00000323944.5	-	4	888	c.437C>G	c.(436-438)tCc>tGc	p.S146C	STXBP6_ENST00000548724.1_Missense_Mutation_p.S146C|STXBP6_ENST00000358326.2_Missense_Mutation_p.S146C|STXBP6_ENST00000550887.1_Missense_Mutation_p.S146C|STXBP6_ENST00000396700.1_Missense_Mutation_p.S146C|STXBP6_ENST00000419632.2_Missense_Mutation_p.S146C|STXBP6_ENST00000546511.1_Missense_Mutation_p.S146C			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	146					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CATAATTTTGGATTGGCAGTT	0.438000													10	31					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530377	125530377	+	Splice_Site	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:125530377T>C	ENST00000431078.1	+	17	2896	c.2530_splice	c.e17-1	p.S844_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	844	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGGTTTCAGCTCCTTCAGAGA	0.463000													14	64					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126125453	126125453	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:126125453C>A	ENST00000373631.3	+	2	405	c.404C>A	c.(403-405)cCc>cAc	p.P135H	CRB2_ENST00000359999.3_Missense_Mutation_p.P135H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	135	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGCCATTGCCCCCTTGGCTAT	0.622000													9	15					1.76689e-08	2.2657e-08	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126049538	126049538	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:126049538A>G	ENST00000318410.7	-	26	3471	c.3122T>C	c.(3121-3123)aTt>aCt	p.I1041T	KIAA0196_ENST00000517845.1_Missense_Mutation_p.I893T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1041					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAAGTTTACAATTGGAAAATA	0.323000													9	59					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157396755	157396755	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:157396755C>A	ENST00000389413.3	-	15	2373	c.2270G>T	c.(2269-2271)cGg>cTg	p.R757L	PTPRN2_ENST00000389416.4_Missense_Mutation_p.R769L|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R809L|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R748L|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R786L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	786	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGCAGGACCCGGGAGTGGTC	0.637000													13	91					7.93312e-07	9.41465e-07	1	1	0
FLG	2312	broad.mit.edu	37	1	152282296	152282296	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:152282296G>A	ENST00000368799.1	-	3	5101	c.5066C>T	c.(5065-5067)gCa>gTa	p.A1689V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1689	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)			GGAGCTGTCTGCTGACTGCTG	0.577000									Ichthyosis				81	407					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935767	30935767	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:30935767G>T	ENST00000355537.3	+	2	1445	c.1298G>T	c.(1297-1299)tGc>tTc	p.C433F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TACCTCTCCTGCCTGCAGAGT	0.647000													54	103					1.27862e-28	2.35968e-28	1	1	0
IL1B	3553	broad.mit.edu	37	2	113588989	113588989	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:113588989G>T	ENST00000263341.2	-	6	687	c.477C>A	c.(475-477)tcC>tcA	p.S159S	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	159					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CAAAGGACATGGAGAACACCA	0.473000													13	52					4.3838e-07	5.28514e-07	1	1	0
MACF1	23499	broad.mit.edu	37	1	39549968	39549968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:39549968C>A	ENST00000567887.1	+	1	235	c.78C>A	c.(76-78)taC>taA	p.Y26*	MACF1_ENST00000539005.1_Nonsense_Mutation_p.Y26*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Y26*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Y26*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Y26*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Y26*|MACF1_ENST00000602421.1_Nonsense_Mutation_p.Y26*|MACF1_ENST00000484793.1_Nonsense_Mutation_p.Y26*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	26	Actin-binding.				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)			AGCGATCTTACAGGAGCGAGC	0.612000													51	75					8.72198e-27	1.58917e-26	1	1	0
HELZ	9931	broad.mit.edu	37	17	65184466	65184466	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:65184466T>A	ENST00000358691.5	-	12	1297	c.1131A>T	c.(1129-1131)caA>caT	p.Q377H	HELZ_ENST00000580168.1_Missense_Mutation_p.Q377H	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCATTACTCTTTGCATGAGTA	0.358000													21	101					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190593	6190593	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:6190593C>G	ENST00000530810.1	-	1	1045	c.964G>C	c.(964-966)Ggc>Cgc	p.G322R	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCATGAGCCCAGAGGGGAG	0.468000													22	19					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455239	187455239	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:187455239C>G	ENST00000307161.5	-	2	858	c.657G>C	c.(655-657)caG>caC	p.Q219H	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	219					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GTTTCACCCTCTGTCTGACCT	0.483000													8	141					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28599077	28599077	+	Missense_Mutation	SNP	C	C	T	rs148592477	by1000genomes	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:28599077C>T	ENST00000380982.4	-	18	2292	c.2211G>A	c.(2209-2211)atG>atA	p.M737I	FLT3_ENST00000537084.1_Missense_Mutation_p.M737I|FLT3_ENST00000241453.7_Missense_Mutation_p.M737I			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	737	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.M737I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTGAACCAGGCATGCTATTAA	0.308000			"""Mis, O"""		"""AML, ALL"""								16	51					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22157722	22157722	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:22157722C>A	ENST00000374695.3	-	84	11627	c.11548G>T	c.(11548-11550)Gac>Tac	p.D3850Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3850	EGF-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGGGCCGGTCCCGACAGGTG	0.682000													29	69					1.36615e-20	2.3373e-20	1	1	0
F13A1	2162	broad.mit.edu	37	6	6152141	6152141	+	Silent	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:6152141T>A	ENST00000264870.3	-	14	2215	c.1950A>T	c.(1948-1950)acA>acT	p.T650T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	650			T -> I (in dbSNP:rs17852475).		peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TAAACTCAACTGTCACAGTCA	0.448000													26	26					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096427	97096427	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:97096427G>C	ENST00000371247.2	-	30	3679	c.3490C>G	c.(3490-3492)Cag>Gag	p.Q1164E	SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.Q1023E|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.Q1164E|SORBS1_ENST00000371227.4_Missense_Mutation_p.Q1118E|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.Q1023E			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1164					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGAGTCTCTGTTCAGTACTC	0.592000													32	134					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17418973	17418973	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:17418973G>T	ENST00000375486.4	-	6	648	c.585C>A	c.(583-585)ccC>ccA	p.P195P	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Silent_p.P195P	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	195					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.P195Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CGTATCCGGCGGGGAGGCGGT	0.537000													20	27					3.51602e-12	5.13084e-12	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028469	37028469	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:37028469G>T	ENST00000358047.3	+	1	2038	c.1986G>T	c.(1984-1986)cgG>cgT	p.R662R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	662										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						CCAAGACTCGGGTGTCCAGTC	0.647000													32	58					4.14481e-20	7.0168e-20	1	1	0
NBEA	26960	broad.mit.edu	37	13	36141048	36141048	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:36141048C>T	ENST00000540320.1	+	45	7463	c.6929C>T	c.(6928-6930)aCa>aTa	p.T2310I	NBEA_ENST00000310336.4_Missense_Mutation_p.T2310I|NBEA_ENST00000537702.1_Missense_Mutation_p.T103I|NBEA_ENST00000400445.3_Missense_Mutation_p.T2310I|NBEA_ENST00000379939.2_Missense_Mutation_p.T2307I			Q8NFP9	NBEA_HUMAN	neurobeachin	2310	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTAGGACGGACATATAATGAT	0.348000													4	25					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132052293	132052293	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:132052293G>A	ENST00000286355.5	-	1	2379	c.287C>T	c.(286-288)cCg>cTg	p.P96L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P96L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	96					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCGCTCTCCCGGGCCCAGCGA	0.746000										HNSCC(32;0.087)			11	14					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15573121	15573121	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:15573121G>T	ENST00000378076.3	-	28	3263	c.2910C>A	c.(2908-2910)tcC>tcA	p.S970S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	970					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGGACACCAGGGATGCAAGAG	0.338000													19	38					2.94398e-08	3.75271e-08	1	1	0
DROSHA	29102	broad.mit.edu	37	5	31526375	31526375	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:31526375G>A	ENST00000511367.2	-	4	909	c.665C>T	c.(664-666)cCa>cTa	p.P222L	DROSHA_ENST00000442743.1_Missense_Mutation_p.P222L|DROSHA_ENST00000344624.3_Missense_Mutation_p.P222L|DROSHA_ENST00000513349.1_Missense_Mutation_p.P222L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	222	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.P222Q(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CAGCCTTTCTGGGGACCTTCT	0.562000													9	121					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001865	177001865	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:177001865C>A	ENST00000367654.2	-	3	605	c.592G>T	c.(592-594)Gcc>Tcc	p.A198S	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.A198S|ASTN1_ENST00000424564.2_Missense_Mutation_p.A198S|ASTN1_ENST00000361833.2_Missense_Mutation_p.A198S			O14525	ASTN1_HUMAN	astrotactin 1	198					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCTCATTGGCTGCCTCAGCA	0.632000													29	137					1.39806e-14	2.15729e-14	1	1	0
GRM8	2918	broad.mit.edu	37	7	126173566	126173566	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:126173566C>G	ENST00000339582.2	-	9	2678	c.1870G>C	c.(1870-1872)Gtg>Ctg	p.V624L	GRM8_ENST00000444921.2_Missense_Mutation_p.V624L|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.V624L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	624					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTTAGGAGCACGTAACTAAGT	0.458000										HNSCC(24;0.065)			28	26					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70707725	70707725	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:70707725C>G	ENST00000226444.3	-	8	984	c.872G>C	c.(871-873)cGa>cCa	p.R291P		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	291					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GATCTCAGTTCGAAACTTCAG	0.308000													5	15					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77089302	77089302	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:77089302G>T	ENST00000426216.2	+	16	1952	c.1935_splice	c.e16+1	p.R645_splice	ATP9B_ENST00000307671.7_Splice_Site_p.R645_splice	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	645					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TCATCGTCAGGGTGAGGCTGC	0.522000													33	52					1.30998e-17	2.14724e-17	1	1	0
CCDC74B	91409	broad.mit.edu	37	2	130899947	130899947	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:130899947G>T	ENST00000392984.3	-	2	1352	c.609C>A	c.(607-609)ccC>ccA	p.P203P	CCDC74B_ENST00000310463.6_Silent_p.P101P|CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409943.3_Intron			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	101										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GGTTTCCTGAGGGGCCATCTG	0.652000													6	100					0.00829132	0.00864656	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136290	40136290	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:40136290C>A	ENST00000278198.2	-	2	3516	c.1553G>T	c.(1552-1554)gGa>gTa	p.G518V	LRRC4C_ENST00000527150.1_Missense_Mutation_p.G518V|LRRC4C_ENST00000530763.1_Missense_Mutation_p.G518V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.G518V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	518					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTCATCAATTCCTGGGATCCC	0.473000													14	34					0.000308642	0.000332622	1	1	0
ADAMTS6	11174	broad.mit.edu	37	5	64748737	64748737	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:64748737T>C	ENST00000536360.1	-	5	1453	c.640A>G	c.(640-642)Aga>Gga	p.R214G				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	214					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TTGCCACTTCTTGTGAAATCT	0.353000													21	26					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907700	103907700	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:103907700G>A	ENST00000302259.3	+	1	393	c.150G>A	c.(148-150)atG>atA	p.M50I	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	50	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCATCCACATGGAGCGACTCC	0.567000													64	223					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162683597	162683597	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:162683597G>A	ENST00000366898.1	-	3	474	c.372C>T	c.(370-372)caC>caT	p.H124H	PARK2_ENST00000366892.1_Silent_p.H124H|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Silent_p.H124H	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	124					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TGCTGTCAGTGTGCAGAATGA	0.542000													35	96					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299573	62299573	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:62299573G>T	ENST00000378024.4	-	5	2590	c.2316C>A	c.(2314-2316)aaC>aaA	p.N772K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	772					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)				CCTTGGGCAGGTTCACATCCA	0.507000													37	84					6.97489e-18	1.14619e-17	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124345884	124345884	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:124345884G>A	ENST00000338354.3	+	16	1874	c.1768G>A	c.(1768-1770)Ggt>Agt	p.G590S	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.G580S|DMBT1_ENST00000344338.3_Missense_Mutation_p.G580S|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G590S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	590	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGAAGACGCTGGTGTCATCTG	0.507000													67	45					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56312993	56312993	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:56312993A>T	ENST00000443188.1	-	7	2826	c.2116T>A	c.(2116-2118)Ttt>Att	p.F706I	NLRP11_ENST00000589824.2_Missense_Mutation_p.F652I|NLRP11_ENST00000592953.1_Missense_Mutation_p.F607I|NLRP11_ENST00000589093.1_Missense_Mutation_p.F706I|NLRP11_ENST00000360133.3_Missense_Mutation_p.F652I	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	706							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGAAGTGAAAACATATTTAGG	0.473000													39	23					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24900869	24900869	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:24900869G>T	ENST00000251343.5	+	3	541	c.402G>T	c.(400-402)cgG>cgT	p.R134R	KHNYN_ENST00000553935.1_Silent_p.R134R|KHNYN_ENST00000556842.1_Silent_p.R134R			O15037	KHNYN_HUMAN	KH and NYN domain containing	134										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTCAGAGCCGGGTAGAAGAGC	0.617000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	75					9.39395e-14	1.41568e-13	1	1	0
SERPINA7	6906	broad.mit.edu	37	X	105280841	105280841	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:105280841G>T	ENST00000327674.4	-	1	544	c.209C>A	c.(208-210)cCt>cAt	p.P70H	SERPINA7_ENST00000372563.1_Missense_Mutation_p.P70H			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	70					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AATGCTCACAGGGGAAAAGAA	0.483000													40	11					2.52637e-11	3.58134e-11	1	1	0
IL7R	3575	broad.mit.edu	37	5	35871293	35871293	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:35871293A>C	ENST00000303115.3	+	4	644	c.515A>C	c.(514-516)gAa>gCa	p.E172A	IL7R_ENST00000506850.1_Missense_Mutation_p.E172A|IL7R_ENST00000343305.4_Missense_Mutation_p.E172A	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	172	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TACCGCCAGGAAAAGGATGAA	0.353000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						16	22					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423978	56423978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:56423978G>T	ENST00000588751.1	-	5	1229	c.1205C>A	c.(1204-1206)tCa>tAa	p.S402*	NLRP13_ENST00000342929.3_Nonsense_Mutation_p.S402*			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	402	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AACTTCACTTGAGTCATCAAA	0.443000													38	22					3.33393e-15	5.25767e-15	1	1	0
LINGO2	158038	broad.mit.edu	37	9	27948891	27948891	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:27948891C>A	ENST00000379992.2	-	6	2228	c.1779G>T	c.(1777-1779)ggG>ggT	p.G593G	LINGO2_ENST00000308675.3_Silent_p.G593G	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	593						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CAGCTACCTCCCCTTCCACAA	0.458000													17	36					1.5739e-10	2.19021e-10	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1626464	1626464	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:1626464C>A	ENST00000421627.2	+	9	2267	c.2133C>A	c.(2131-2133)acC>acA	p.T711T		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	790					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCACATCACCACGGAGGACA	0.612000													15	72					3.27435e-08	4.14516e-08	1	1	0
LSS	4047	broad.mit.edu	37	21	47630634	47630634	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:47630634C>T	ENST00000397728.3	-	12	1240	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	LSS_ENST00000356396.4_Missense_Mutation_p.D388N|LSS_ENST00000522411.1_Missense_Mutation_p.D377N|LSS_ENST00000457828.2_Missense_Mutation_p.D308N	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	388					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AATGCGGTGTCCCAGATCTGT	0.592000													7	35					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923294	159923294	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:159923294G>A	ENST00000368093.3	-	2	312	c.196C>T	c.(196-198)Cca>Tca	p.P66S	SLAMF9_ENST00000368092.3_Missense_Mutation_p.P66S	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	66						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTTTCCCTGGCACCACAGTG	0.532000													20	39					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18221417	18221417	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:18221417T>A	ENST00000406438.3	+	1	2794	c.2314T>A	c.(2314-2316)Ttg>Atg	p.L772M		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	772										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTCCTCCCCTTTGCACATTAT	0.517000													96	34					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57510023	57510023	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:57510023G>T	ENST00000420713.1	+	1	141	c.29G>T	c.(28-30)aGc>aTc	p.S10I		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CCCCCTGGAAGCCGAGAAATG	0.577000													11	41					1.61879e-10	2.25026e-10	1	1	0
MYH7	4625	broad.mit.edu	37	14	23900659	23900659	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:23900659G>T	ENST00000355349.3	-	9	926	c.764C>A	c.(763-765)aCa>aAa	p.T255K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	255	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAACTTTCCTGTTGCCCCAAA	0.498000													52	87					3.21867e-24	5.70342e-24	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125262075	125262075	+	Silent	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:125262075T>A	ENST00000431078.1	+	8	1630	c.1266T>A	c.(1264-1266)ggT>ggA	p.G422G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	422	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCCTGGAGGGTGGAATCCTGA	0.507000													7	83					0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61950595	61950595	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:61950595C>T	ENST00000336844.5	-	2	266	c.115G>A	c.(115-117)Gct>Act	p.A39T	CSH2_ENST00000560142.1_Intron|CSH2_ENST00000392886.2_Missense_Mutation_p.A39T|CSH2_ENST00000345366.7_Missense_Mutation_p.A39T	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	39					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						TGGAGCATAGCGTGGTCAAAA	0.602000													26	154					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39647373	39647373	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:39647373G>T	ENST00000262039.4	+	24	2631	c.2545G>T	c.(2545-2547)Gac>Tac	p.D849Y	PIK3C3_ENST00000588156.1_Missense_Mutation_p.D73Y|PIK3C3_ENST00000587328.1_Missense_Mutation_p.D27Y|PIK3C3_ENST00000593098.1_Missense_Mutation_p.D334Y|PIK3C3_ENST00000398870.3_Missense_Mutation_p.D786Y	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	849	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ATTCCGCTTAGACCTGTCGGA	0.418000										TSP Lung(28;0.18)			10	22					1.08611e-07	1.34075e-07	1	1	0
RNF207	388591	broad.mit.edu	37	1	6269374	6269374	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:6269374G>T	ENST00000377939.4	+	6	725	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	RNF207_ENST00000377948.2_5'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	200						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTACGTGCAGGGCTGCGAGCG	0.766000													4	2					0.00909568	0.0094396	1	1	0
BPI	671	broad.mit.edu	37	20	36954747	36954747	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:36954747C>A	ENST00000262865.4	+	10	1175	c.1086C>A	c.(1084-1086)acC>acA	p.T362T	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	362					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGCAGCCCACCGGCCTTACCT	0.592000													12	59					2.32078e-09	3.08005e-09	1	1	0
PNPLA5	150379	broad.mit.edu	37	22	44285221	44285221	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr22:44285221G>T	ENST00000216177.4	-	4	822	c.690C>A	c.(688-690)ccC>ccA	p.P230P	PNPLA5_ENST00000381198.2_Silent_p.P116P|PNPLA5_ENST00000597664.1_Silent_p.P230P|PNPLA5_ENST00000593866.1_Silent_p.P116P	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	230					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CGAGGCTGGGGGGTATGAGAC	0.572000													15	58					0.000308642	0.000332622	1	1	0
GPRC5B	51704	broad.mit.edu	37	16	19883616	19883616	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:19883616G>T	ENST00000300571.2	-	2	743	c.552C>A	c.(550-552)acC>acA	p.T184T	GPRC5B_ENST00000569847.1_Silent_p.T184T|GPRC5B_ENST00000569479.1_Silent_p.T184T|GPRC5B_ENST00000537135.1_Silent_p.T210T|GPRC5B_ENST00000535671.1_Silent_p.T184T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	184										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACGCAGCACGGTGAGCACCA	0.652000													17	72					6.94344e-10	9.40866e-10	1	1	0
SLC24A2	25769	broad.mit.edu	37	9	19786653	19786653	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:19786653C>G	ENST00000341998.2	-	1	273	c.212G>C	c.(211-213)aGt>aCt	p.S71T	SLC24A2_ENST00000286344.3_Missense_Mutation_p.S71T	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	71					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ACTTACAACACTGGCCTCTCC	0.458000													21	45					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99418805	99418805	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:99418805C>A	ENST00000370188.3	-	3	802	c.442G>T	c.(442-444)Gcc>Tcc	p.A148S	LPPR5_ENST00000263177.4_Missense_Mutation_p.A148S	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		148						integral to membrane	hydrolase activity										AAATGTGGGGCCAGATTTCCT	0.418000													15	56					0.00244969	0.00257547	1	1	0
SPZ1	84654	broad.mit.edu	37	5	79617267	79617267	+	Silent	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:79617267T>C	ENST00000296739.4	+	1	1478	c.1233T>C	c.(1231-1233)aaT>aaC	p.N411N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		CCCAGTTCAATATTCATGTTG	0.368000													12	23					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175841	143175841	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:143175841C>G	ENST00000408916.1	+	1	876	c.876C>G	c.(874-876)agC>agG	p.S292R	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	292					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.S292S(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AGCTTCGAAGCGTGTTCTCGC	0.517000													15	46					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885975	180885975	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:180885975G>T	ENST00000367588.4	+	2	791	c.736G>T	c.(736-738)Gat>Tat	p.D246Y		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	246										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCCTTTTCCAGATGGCGTGGT	0.587000													62	245					4.88506e-25	8.76456e-25	1	1	0
KCNIP3	30818	broad.mit.edu	37	2	96040611	96040611	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:96040611C>G	ENST00000295225.5	+	4	457	c.322C>G	c.(322-324)Ctg>Gtg	p.L108V	KCNIP3_ENST00000468529.1_Missense_Mutation_p.L82V|KCNIP3_ENST00000360990.3_Intron|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	108	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TCCCACGGGCCTGGTGGACGA	0.642000													12	72					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189025	140189025	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:140189025G>T	ENST00000530339.1	+	1	2253	c.2253G>T	c.(2251-2253)tcG>tcT	p.S751S	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.S751S|PCDHA4_ENST00000356878.4_Silent_p.S751S	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCATACTCGCAGCAGAGGA	0.667000													15	101					7.93312e-07	9.41465e-07	1	1	0
MRPS35	60488	broad.mit.edu	37	12	27888439	27888439	+	Silent	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:27888439A>T	ENST00000081029.3	+	6	653	c.582A>T	c.(580-582)gtA>gtT	p.V194V	MRPS35_ENST00000538315.1_Intron	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	194					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TTAAACTTGTAGGAGAGCGAT	0.333000													11	49					0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49073616	49073616	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:49073616C>A	ENST00000550347.1	-	2	844	c.800_splice	c.e2-1	p.G267_splice	KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000553086.1_Splice_Site_p.G84_splice|KANSL2_ENST00000420613.2_Splice_Site_p.G84_splice			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	84																	AGAAGGACACCCTGAAGAGAC	0.408000													5	15					1.23904e-05	1.41573e-05	1	1	0
RASAL3	64926	broad.mit.edu	37	19	15574969	15574969	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:15574969G>T	ENST00000343625.6	-	2	281	c.201C>A	c.(199-201)ttC>ttA	p.F67L		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	67					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGACCCGACGGAATATCGAGC	0.682000													8	17					0.000442599	0.000475398	1	1	0
LIPC	3990	broad.mit.edu	37	15	58834025	58834025	+	Silent	SNP	C	C	G	rs151259669	by1000genomes	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:58834025C>G	ENST00000414170.3	+	4	602	c.315C>G	c.(313-315)gcC>gcG	p.A105A	LIPC_ENST00000433326.2_Intron|LIPC_ENST00000299022.5_Silent_p.A105A|LIPC_ENST00000356113.6_Silent_p.A105A			P11150	LIPC_HUMAN	lipase, hepatic	105					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AGATGGTGGCCGCGCTGAAGT	0.637000													5	24					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505276	32505276	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:32505276G>C	ENST00000520502.2	+	1	40	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287840.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGTCGCCGCCGAGAGGTCCTC	0.612000													23	57					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104565240	104565240	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:104565240G>A	ENST00000551177.1	+	6	656	c.564G>A	c.(562-564)aaG>aaA	p.K188K	ASPG_ENST00000546892.2_Silent_p.K188K|ASPG_ENST00000455920.2_Silent_p.K188K	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	188	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGCAACCAAGGTAGACGCTC	0.622000													8	19					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520765	33520765	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:33520765A>T	ENST00000297307.5	-	1	647	c.562T>A	c.(562-564)Tac>Aac	p.Y188N		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	188						integral to membrane											AGGGCGGTGTAGACACCCGTG	0.597000													144	162					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56507426	56507426	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:56507426C>G	ENST00000446842.2	-	1	268	c.161G>C	c.(160-162)gGa>gCa	p.G54A	DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Missense_Mutation_p.G54A|DST_ENST00000370788.2_Intron|DST_ENST00000370765.6_Missense_Mutation_p.G54A|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000518935.1_Missense_Mutation_p.G54A|DST_ENST00000312431.6_Intron			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1.				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)			ATACCTGTGTCCATCAAAGGA	0.413000													41	21					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266632	107266632	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:107266632T>A	ENST00000334726.2	+	1	178	c.89T>A	c.(88-90)gTg>gAg	p.V30E		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATATTTGCGGTGTGCTTGCTG	0.423000													21	40					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22881297	22881297	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:22881297A>T	ENST00000400546.1	+	16	2452	c.2203A>T	c.(2203-2205)Atc>Ttc	p.I735F	NCAM2_ENST00000284894.7_Missense_Mutation_p.I593F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	735					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCTGATGTGCATCACTAGGAG	0.463000													21	34					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139994317	139994317	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:139994317C>T	ENST00000371589.4	+	6	973	c.900C>T	c.(898-900)atC>atT	p.I300I	MAN1B1_ENST00000474902.1_Silent_p.I3I	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	300					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CCATGTGGATCTTGGGTCTGA	0.607000													27	78					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677006	37677006	+	Missense_Mutation	SNP	C	C	G	rs144540221		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:37677006C>G	ENST00000532828.2	-	5	1684	c.1433G>C	c.(1432-1434)cGg>cCg	p.R478P	ZNF585B_ENST00000312908.5_Missense_Mutation_p.R66P|ZNF585B_ENST00000531805.1_Missense_Mutation_p.R423P|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGATTTGACCGGTTGGTGAA	0.388000													18	51					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11607522	11607522	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:11607522G>T	ENST00000262442.3	+	25	5222	c.5154G>T	c.(5152-5154)gtG>gtT	p.V1718V	DNAH9_ENST00000454412.2_Silent_p.V1718V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1718	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCACAGGTGGCCCTGACCT	0.502000													65	33					3.57465e-26	6.50394e-26	1	1	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044415	90044415	+	RNA	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:90044415C>G	ENST00000462693.1	+	0	366																											GGGTTTATTACTGCACGCAAG	0.537000													30	70					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152497098	152497098	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:152497098C>G	ENST00000397345.3	-	61	8658	c.8456G>C	c.(8455-8457)tGg>tCg	p.W2819S	NEB_ENST00000603639.1_Missense_Mutation_p.W2819S|NEB_ENST00000172853.10_Missense_Mutation_p.W2819S|NEB_ENST00000409198.1_Missense_Mutation_p.W2819S|NEB_ENST00000427231.2_Missense_Mutation_p.W2819S|NEB_ENST00000604864.1_Missense_Mutation_p.W2819S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2819					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)		GTGCATGGACCACATCATCTT	0.507000													57	304					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74283897	74283897	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:74283897C>G	ENST00000295897.4	+	12	1610	c.1521C>G	c.(1519-1521)aaC>aaG	p.N507K	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.N507K|ALB_ENST00000503124.1_Missense_Mutation_p.N357K|ALB_ENST00000401494.3_Missense_Mutation_p.N392K|ALB_ENST00000415165.2_Missense_Mutation_p.N315K	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	507	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCTTGGTGAACAGGCGACCAT	0.438000													19	43					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343420	248343420	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248343420A>T	ENST00000359682.2	+	1	133	c.133A>T	c.(133-135)Atg>Ttg	p.M45L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAACTCTGTCATGGTTCTCCT	0.527000													59	241					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3256938	3256938	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:3256938G>T	ENST00000520002.1	-	17	2938	c.2383C>A	c.(2383-2385)Cac>Aac	p.H795N	CSMD1_ENST00000400186.3_Missense_Mutation_p.H795N|CSMD1_ENST00000542608.1_Missense_Mutation_p.H794N|CSMD1_ENST00000539096.1_Missense_Mutation_p.H794N|CSMD1_ENST00000602557.1_Missense_Mutation_p.H795N|CSMD1_ENST00000602723.1_Missense_Mutation_p.H795N|CSMD1_ENST00000537824.1_Missense_Mutation_p.H794N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	795	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGATAGAGTGGCCTGGTTTT	0.378000													9	38					3.86212e-05	4.28386e-05	1	1	0
OR8B4	283162	broad.mit.edu	37	11	124294410	124294410	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:124294410C>A	ENST00000356130.3	-	1	379	c.358G>T	c.(358-360)Gat>Tat	p.D120Y		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACATAGCGATCATAGGCCATT	0.448000													12	70					4.3838e-07	5.28514e-07	1	1	0
REEP3	221035	broad.mit.edu	37	10	65354545	65354545	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:65354545G>T	ENST00000373758.4	+	3	296	c.113G>T	c.(112-114)tGg>tTg	p.W38L	REEP3_ENST00000298249.4_Missense_Mutation_p.W23L	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	38						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CAGGTTCGATGGATGATGTAC	0.333000													19	18					2.4624e-09	3.26128e-09	1	1	0
DGKB	1607	broad.mit.edu	37	7	14647080	14647080	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:14647080G>T	ENST00000403951.2	-	17	1834	c.1415C>A	c.(1414-1416)tCt>tAt	p.S472Y	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.S472Y|DGKB_ENST00000444700.2_Missense_Mutation_p.S453Y|DGKB_ENST00000407950.1_Missense_Mutation_p.S464Y|DGKB_ENST00000402815.1_Missense_Mutation_p.S471Y|DGKB_ENST00000406247.3_Missense_Mutation_p.S472Y|DGKB_ENST00000258767.5_Missense_Mutation_p.S472Y			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	472	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TCCATTTCCAGAAAGACTGTA	0.299000													8	15					0.000673444	0.000717969	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76124531	76124531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:76124531C>A	ENST00000393004.2	-	2	379	c.158G>T	c.(157-159)gGa>gTa	p.G53V	FILIP1_ENST00000237172.7_Missense_Mutation_p.G53V			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	53										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTGACAGTTCCTGAGGCCAT	0.408000													57	98					6.3091e-27	1.15117e-26	1	1	0
GPR98	84059	broad.mit.edu	37	5	90124761	90124761	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:90124761G>T	ENST00000405460.2	+	77	16465	c.16368_splice	c.e77-1	p.V5457_splice	GPR98_ENST00000425867.2_Splice_Site_p.V1118_splice	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5457	Calx-beta 35.				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)		TCATTGTCAGGTACCACAGGT	0.294000													3	26					0.115264	0.116712	1	1	0
MUC16	94025	broad.mit.edu	37	19	9033669	9033669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:9033669C>A	ENST00000397910.4	-	9	36471	c.36268G>T	c.(36268-36270)Gac>Tac	p.D12090Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12092	SEA 1.				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						TGCCGCATGTCCTCCTCGTAC	0.587000													14	46					4.36969e-10	5.99033e-10	1	1	0
GLUD2	2747	broad.mit.edu	37	X	120182839	120182839	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:120182839G>T	ENST00000328078.1	+	1	1378	c.1301G>T	c.(1300-1302)gGa>gTa	p.G434V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	434					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AATGCTGGAGGAGTGACAGTA	0.423000													57	32					2.73381e-35	5.18619e-35	1	1	0
RALGAPA2	57186	broad.mit.edu	37	20	20599997	20599997	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:20599997G>A	ENST00000202677.6	-	12	1605	c.1463C>T	c.(1462-1464)aCa>aTa	p.T488I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	488					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CATTGCACTTGTGAAGGAGTA	0.478000													17	24					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152129170	152129170	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:152129170G>T	ENST00000440973.1	+	3	493	c.123G>T	c.(121-123)gaG>gaT	p.E41D	ESR1_ENST00000406599.1_Missense_Mutation_p.E41D|ESR1_ENST00000338799.5_Missense_Mutation_p.E41D|ESR1_ENST00000206249.3_Missense_Mutation_p.E41D|ESR1_ENST00000443427.1_Missense_Mutation_p.E41D|ESR1_ENST00000456483.2_Missense_Mutation_p.E41D	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	41	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CCCTGGGCGAGGTGTACCTGG	0.667000													13	34					4.3838e-07	5.28514e-07	1	1	0
SMR3B	10879	broad.mit.edu	37	4	71255429	71255429	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:71255429T>A	ENST00000304915.3	+	3	253	c.104T>A	c.(103-105)cTg>cAg	p.L35Q	SMR3B_ENST00000504825.1_Missense_Mutation_p.L35Q	NM_006685.3	NP_006676.1			submaxillary gland androgen regulated protein 3B											large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				CCTGGACCGCTGGCTCCTCCT	0.512000													23	57					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	23999854	23999854	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:23999854G>T	ENST00000303531.7	+	3	383	c.231G>T	c.(229-231)cgG>cgT	p.R77R	PRKCB_ENST00000321728.7_Silent_p.R77R	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	77					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TGCACAAGCGGTGCCATGAAT	0.507000													21	60					1.87028e-06	2.19933e-06	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25436486	25436486	+	RNA	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:25436486C>T	ENST00000424208.1	+	0	1081				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						TGGTCTGCTGCACTGAGCTGC	0.617000													27	63					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79760777	79760777	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:79760777C>T	ENST00000372371.3	-	18	2572	c.2435G>A	c.(2434-2436)gGc>gAc	p.G812D		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	812					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTTTTCAAAGCCGTCTGGCAC	0.458000													36	19					0	0	1	0	0
PRSS27	83886	broad.mit.edu	37	16	2764226	2764226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:2764226G>T	ENST00000302641.3	-	4	402	c.348C>A	c.(346-348)taC>taA	p.Y116*		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	116	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCGTGCCCTGGTACAGGGGGT	0.667000													16	55					6.31663e-08	7.92651e-08	1	1	0
OR2A12	346525	broad.mit.edu	37	7	143793059	143793059	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:143793059C>A	ENST00000408949.2	+	1	919	c.859C>A	c.(859-861)Ctc>Atc	p.L287I		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CCTGAACCCCCTCATCTACAG	0.468000													22	314					5.35356e-11	7.52297e-11	1	1	0
PTPRT	11122	broad.mit.edu	37	20	41408901	41408901	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:41408901G>T	ENST00000373198.3	-	4	760	c.525C>A	c.(523-525)ggC>ggA	p.G175G	PTPRT_ENST00000373184.1_Silent_p.G175G|PTPRT_ENST00000373190.1_Silent_p.G175G|PTPRT_ENST00000373193.3_Silent_p.G175G|PTPRT_ENST00000373201.1_Silent_p.G175G|PTPRT_ENST00000356100.2_Silent_p.G175G|PTPRT_ENST00000373187.1_Silent_p.G175G	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	175	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGGCGATGTAGCCAGGATGAC	0.512000													18	90					1.56452e-12	2.3013e-12	1	1	0
ATP10A	57194	broad.mit.edu	37	15	25924950	25924950	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:25924950G>A	ENST00000356865.6	-	21	4149	c.4038C>T	c.(4036-4038)acC>acT	p.T1346T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1346					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGGCACAGAGGTCTTGACTG	0.627000													16	70					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43034745	43034745	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:43034745G>T	ENST00000316099.3	+	2	252	c.163G>T	c.(163-165)Ggt>Tgt	p.G55C	HNF4A_ENST00000415691.1_Missense_Mutation_p.G55C|HNF4A_ENST00000443598.2_Missense_Mutation_p.G55C|HNF4A_ENST00000457232.1_Missense_Mutation_p.G33C	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	55					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAACAGCCTGGGTGTCAGCGC	0.627000													35	208					9.65963e-10	1.30481e-09	1	1	0
C6orf203	51250	broad.mit.edu	37	6	107365484	107365484	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:107365484A>G	ENST00000443043.1	+	4	1181	c.506A>G	c.(505-507)tAc>tGc	p.Y169C	C6orf203_ENST00000311381.5_Missense_Mutation_p.Y164C|C6orf203_ENST00000405204.2_Missense_Mutation_p.Y164C	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	164										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GATGCTTTCTACAAAGGTGAA	0.388000													24	22					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564712	33564712	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:33564712C>A	ENST00000321505.4	+	1	892	c.712C>A	c.(712-714)Cct>Act	p.P238T	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P238T|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P238T					KIAA1549-like																		TGATGGGTCCCCTCCTGCAAC	0.517000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	56					1.96292e-10	2.7082e-10	1	1	0
PSEN1	5663	broad.mit.edu	37	14	73664737	73664737	+	Splice_Site	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:73664737A>G	ENST00000324501.5	+	8	1041		c.e8-1		PSEN1_ENST00000557511.1_Splice_Site|PSEN1_ENST00000261970.3_Splice_Site|PSEN1_ENST00000344094.3_Splice_Site|PSEN1_ENST00000406768.1_Splice_Site|PSEN1_ENST00000394164.1_Splice_Site|PSEN1_ENST00000357710.4_Splice_Site	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1						amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TTCTTTTTCTAGATTTAGTGG	0.363000													5	17					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212556	26212556	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:26212556A>C	ENST00000379034.1	+	2	742	c.593A>C	c.(592-594)aAg>aCg	p.K198T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	198	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTAAAGAAGAAGGCGTGCACG	0.468000													16	47					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13692172	13692172	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:13692172G>C	ENST00000265104.4	-	79	13900	c.13796C>G	c.(13795-13797)gCc>gGc	p.A4599G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4599					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCCACAGCGGCAATGTAGTT	0.493000									Kartagener syndrome				38	54					0	0	1	0	0
NOXA1	10811	broad.mit.edu	37	9	140323732	140323732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:140323732G>T	ENST00000341349.2	+	5	689	c.509G>T	c.(508-510)cGg>cTg	p.R170L	NOXA1_ENST00000392815.2_Intron	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	170	Mediates interaction with RAC1.				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CTCCAGAGACGGGGCTCACTG	0.692000													2	5					1	1	1	1	0
ATIC	471	broad.mit.edu	37	2	216197152	216197152	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:216197152G>A	ENST00000435675.1	+	7	1124	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	ATIC_ENST00000540518.1_Missense_Mutation_p.A187T|ATIC_ENST00000236959.9_Missense_Mutation_p.A246T			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	246					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TGCTTTGAACGCCTGGCAGCT	0.448000			T	ALK	ALCL								35	38					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678918	130678918	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:130678918C>T	ENST00000338616.3	+	1	969	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L291M(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GATATATAGCCTGAGAAAAAA	0.398000													21	41					0	0	1	0	0
KCTD6	200845	broad.mit.edu	37	3	58487206	58487206	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:58487206A>T	ENST00000355076.6	+	2	1544	c.561A>T	c.(559-561)gaA>gaT	p.E187D	KCTD6_ENST00000490264.1_Missense_Mutation_p.E187D|KCTD6_ENST00000404589.3_Missense_Mutation_p.E187D	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	187						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		ATCACCAGGAAGTTTCTCTTA	0.448000													7	53					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73716727	73716727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:73716727G>T	ENST00000427855.1	+	6	472	c.370G>T	c.(370-372)Ggg>Tgg	p.G124W	PAPLN_ENST00000381166.3_Missense_Mutation_p.G124W|PAPLN_ENST00000554301.1_Missense_Mutation_p.G124W|PAPLN_ENST00000340738.5_Missense_Mutation_p.G124W|PAPLN_ENST00000555445.1_Missense_Mutation_p.G124W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	124						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CATTCCCAAGGGGGAGAACTT	0.587000													14	14					1.5842e-08	2.04362e-08	1	1	0
LMO7	4008	broad.mit.edu	37	13	76381635	76381635	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:76381635G>C	ENST00000357063.3	+	11	2632	c.1372G>C	c.(1372-1374)Gcc>Ccc	p.A458P	LMO7_ENST00000377534.3_Missense_Mutation_p.A458P|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.A173P|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.A173P			Q8WWI1	LMO7_HUMAN	LIM domain 7	458						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACTGCTTCAGGCCCTCCAAAC	0.428000													26	38					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127713551	127713551	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:127713551C>A	ENST00000508053.1	-	19	2717	c.1743G>T	c.(1741-1743)caG>caT	p.Q581H	FBN2_ENST00000508989.1_Missense_Mutation_p.Q548H|FBN2_ENST00000262464.4_Missense_Mutation_p.Q581H			P35556	FBN2_HUMAN	fibrillin 2	581	EGF-like 8; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.Q581H(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAACCCCATTCTGGATGCACT	0.358000													23	45					6.44725e-10	8.80101e-10	1	1	0
TDRD6	221400	broad.mit.edu	37	6	46658729	46658729	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:46658729G>A	ENST00000544460.1	+	1	3118	c.2864G>A	c.(2863-2865)aGa>aAa	p.R955K	TDRD6_ENST00000316081.6_Missense_Mutation_p.R955K	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	955					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTAGAAAAGAGACTTGCAAGA	0.378000													15	57					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165547393	165547393	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:165547393G>T	ENST00000264381.3	-	2	1595	c.1429C>A	c.(1429-1431)Cct>Act	p.P477T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	477					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CTTTCCAGAGGTAAACCAAAG	0.398000													34	35					9.17885e-22	1.6001e-21	1	1	0
FGA	2243	broad.mit.edu	37	4	155507213	155507213	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:155507213G>T	ENST00000302053.3	-	5	1446	c.1368C>A	c.(1366-1368)acC>acA	p.T456T	FGA_ENST00000403106.3_Silent_p.T456T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	456			T -> A (in dbSNP:rs2070031).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AACGACGCGTGGTGGTTGTGC	0.463000													46	109					3.39706e-21	5.85856e-21	1	1	0
CGN	57530	broad.mit.edu	37	1	151491788	151491788	+	Missense_Mutation	SNP	C	C	A	rs148740134	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:151491788C>A	ENST00000271636.7	+	2	926	c.793C>A	c.(793-795)Cgt>Agt	p.R265S		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	259	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGCTTTAGCCGTTCTCGTCA	0.582000													24	82					1.10923e-09	1.49053e-09	1	1	0
DNAJC19	131118	broad.mit.edu	37	3	180704756	180704756	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:180704756C>T	ENST00000382564.2	-	4	354	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	DNAJC19_ENST00000491873.1_Missense_Mutation_p.E37K|DNAJC19_ENST00000486355.1_Intron|DNAJC19_ENST00000479269.1_Missense_Mutation_p.E37K	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	62	J.				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			AATGCTGCTTCCCGTTTTGTC	0.343000													27	80					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	870870	870870	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:870870C>A	ENST00000381922.3	-	2	553	c.451G>T	c.(451-453)Gac>Tac	p.D151Y	ANGPT4_ENST00000546022.1_Missense_Mutation_p.D151Y	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	151					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCCTCCATGTCGGTCAGCTTG	0.607000													24	40					4.26978e-12	6.20272e-12	1	1	0
RNGTT	8732	broad.mit.edu	37	6	89600245	89600245	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:89600245A>G	ENST00000369485.4	-	8	1051	c.865T>C	c.(865-867)Tac>Cac	p.Y289H	RNGTT_ENST00000369475.3_Missense_Mutation_p.Y289H|RNGTT_ENST00000538899.1_Missense_Mutation_p.Y229H|RNGTT_ENST00000265607.6_Missense_Mutation_p.Y289H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	289	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CTTACTTTGTATGGCTTCAGG	0.358000													13	21					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43677830	43677830	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:43677830A>G	ENST00000264663.5	+	19	3019	c.2798A>G	c.(2797-2799)tAt>tGt	p.Y933C	NNT_ENST00000344920.4_Missense_Mutation_p.Y933C|NNT_ENST00000512996.2_Missense_Mutation_p.Y802C	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	933					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CTTGCAGGCTATGGTCTCTGT	0.398000													28	82					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59515900	59515900	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:59515900C>A	ENST00000038176.3	-	13	1126	c.914G>T	c.(913-915)tGg>tTg	p.W305L	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.W336L	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	305	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TCCACGCTGCCACTGCAGCAT	0.562000													55	73					2.27459e-33	4.27107e-33	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140719480	140719480	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:140719480C>G	ENST00000394576.2	+	1	942	c.942C>G	c.(940-942)ttC>ttG	p.F314L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTACATTCCATGAAATTG	0.423000													14	91					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41646518	41646518	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:41646518C>A	ENST00000318588.9	-	3	236	c.191G>T	c.(190-192)aGt>aTt	p.S64I	CASK_ENST00000378166.4_Missense_Mutation_p.S64I|CASK_ENST00000378158.1_Missense_Mutation_p.S64I|CASK_ENST00000421587.2_Missense_Mutation_p.S64I|CASK_ENST00000442742.2_Missense_Mutation_p.S64I|CASK_ENST00000361962.4_Missense_Mutation_p.S64I|CASK_ENST00000378154.1_Missense_Mutation_p.S64I|CASK_ENST00000378163.1_Missense_Mutation_p.S64I			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	64	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATGACAGATACTGGCTTCCCG	0.363000													27	18					2.41591e-17	3.93501e-17	1	1	0
FBN2	2201	broad.mit.edu	37	5	127666322	127666322	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:127666322C>A	ENST00000508053.1	-	39	5262	c.4288G>T	c.(4288-4290)Ggc>Tgc	p.G1430C	FBN2_ENST00000508989.1_Missense_Mutation_p.G1397C|FBN2_ENST00000507835.1_Missense_Mutation_p.G280C|FBN2_ENST00000262464.4_Missense_Mutation_p.G1430C			P35556	FBN2_HUMAN	fibrillin 2	1430	EGF-like 23; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.G1430S(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGGTATGAGCCCGGGGTATTT	0.498000													6	41					8.12818e-05	8.94655e-05	1	1	0
PAPOLA	10914	broad.mit.edu	37	14	96998703	96998703	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:96998703C>G	ENST00000216277.8	+	8	863	c.643C>G	c.(643-645)Cca>Gca	p.P215A	PAPOLA_ENST00000557320.1_Missense_Mutation_p.P215A|PAPOLA_ENST00000392990.2_Missense_Mutation_p.P215A	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	215				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACATCTAGTACCAAACATTGA	0.343000													12	27					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31542261	31542261	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:31542261G>T	ENST00000389082.5	-	20	3902	c.3638C>A	c.(3637-3639)aCa>aAa	p.T1213K	DENND5B_ENST00000306833.6_Missense_Mutation_p.T1248K|DENND5B_ENST00000536562.1_Missense_Mutation_p.T1248K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1213	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTTGTACCTTGTTCCAAGGCA	0.408000													5	17					0.014758	0.0151938	1	1	0
SLC44A5	204962	broad.mit.edu	37	1	75684241	75684241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:75684241C>T	ENST00000370855.5	-	17	1576	c.1463G>A	c.(1462-1464)tGg>tAg	p.W488*	SLC44A5_ENST00000370859.3_Nonsense_Mutation_p.W488*|SLC44A5_ENST00000535611.1_Nonsense_Mutation_p.W358*	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	488						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TTTCATGGCCCAGTAATAAGT	0.423000													15	125					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059551	248059551	+	Silent	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248059551T>A	ENST00000537741.1	+	3	920	c.663T>A	c.(661-663)atT>atA	p.I221I	OR2W3_ENST00000360358.3_Silent_p.I221I			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACAGCTACATTGTGAGGGCTG	0.552000													42	191					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39341593	39341593	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:39341593C>A	ENST00000454994.2	-	2	454	c.178G>T	c.(178-180)Ggc>Tgc	p.G60C	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.G60C|GJA9_ENST00000360786.3_Missense_Mutation_p.G60C			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	60					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTTCTGCAGCCTGGTTGTTCT	0.463000													11	157					1.08611e-07	1.34075e-07	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87943066	87943066	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:87943066G>T	ENST00000369577.3	+	5	605	c.562G>T	c.(562-564)Ggt>Tgt	p.G188C	ZNF292_ENST00000339907.4_Missense_Mutation_p.G183C	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGCTTTTGAGGGTCCCATCTT	0.303000													3	22					0.115264	0.116712	1	1	0
HMGN4	10473	broad.mit.edu	37	6	26545675	26545675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:26545675C>T	ENST00000377575.2	+	2	418	c.241C>T	c.(241-243)Cag>Tag	p.Q81*		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	81						chromatin|nucleus	DNA binding			lung(2)|skin(1)	3						ACTCCAGTCCCAGAAAGCGGA	0.443000													20	105					0	0	1	0	0
WDR86	349136	broad.mit.edu	37	7	151097185	151097185	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:151097185C>A	ENST00000334493.6	-	2	736		c.e2+1		WDR86_ENST00000469830.2_Splice_Site|WDR86_ENST00000477459.1_Splice_Site	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86											breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCAGGCTGACCTGTTCACGA	0.632000													7	19					0.27861	0.279043	1	1	0
CHMP4B	128866	broad.mit.edu	37	20	32441322	32441322	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:32441322G>T	ENST00000217402.2	+	5	796	c.631G>T	c.(631-633)Gac>Tac	p.D211Y		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	211					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						AGAAGAGGAGGACGACGACAT	0.552000													28	62					3.73148e-12	5.4391e-12	1	1	0
RNF103	7844	broad.mit.edu	37	2	86831035	86831035	+	Silent	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:86831035C>G	ENST00000237455.4	-	4	2957	c.1989G>C	c.(1987-1989)cgG>cgC	p.R663R	AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	663					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						AAGAAGGCCACCGGCAAACAG	0.448000													44	33					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49830098	49830098	+	RNA	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:49830098C>A	ENST00000527477.1	+	0	1429																											AGAAGTGAGTCCGTGCTGCTG	0.443000													4	23					1.024e-07	1.28249e-07	1	1	0
BBS10	79738	broad.mit.edu	37	12	76740607	76740607	+	Missense_Mutation	SNP	C	C	G	rs138702315	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:76740607C>G	ENST00000393262.3	-	2	1241	c.1158G>C	c.(1156-1158)ttG>ttC	p.L386F		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	386					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATGTGCTTATCAAGCCTAGAT	0.393000									Bardet-Biedl syndrome				5	33					0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241817438	241817438	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:241817438G>T	ENST00000307503.3	+	10	1329		c.e10-1			NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase						glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCCTCCTGCAGGCGCTCCGGC	0.602000													23	28					7.33532e-06	8.49422e-06	1	1	0
ZNF446	55663	broad.mit.edu	37	19	58991892	58991892	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:58991892C>T	ENST00000596341.1	+	7	3219	c.999C>T	c.(997-999)caC>caT	p.H333H	ZNF446_ENST00000594369.1_Silent_p.H384H|ZNF446_ENST00000335841.4_3'UTR			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	384					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTCCGCACCACCCCCGACGCT	0.657000													26	25					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177199125	177199125	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:177199125C>A	ENST00000361539.4	+	2	425	c.113C>A	c.(112-114)gCg>gAg	p.A38E		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		38						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCAGCCACGGCGGCTGCTGTG	0.687000													18	85					3.32936e-07	4.04414e-07	1	1	0
LYST	1130	broad.mit.edu	37	1	235914598	235914598	+	Silent	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:235914598T>A	ENST00000389794.3	-	28	7866	c.7692A>T	c.(7690-7692)gcA>gcT	p.A2564A	LYST_ENST00000389793.2_Silent_p.A2564A			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2564					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGTCATGATTTGCGGTGGTCC	0.423000													24	54					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82833645	82833645	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:82833645G>T	ENST00000265077.3	+	8	5388	c.4823G>T	c.(4822-4824)tGg>tTg	p.W1608L	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.W621L|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1608	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGAAATCCTTGGCCAGATGAC	0.433000													13	28					1.49906e-05	1.70378e-05	1	1	0
MYH4	4622	broad.mit.edu	37	17	10356471	10356471	+	Missense_Mutation	SNP	C	C	A	rs143090408		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:10356471C>A	ENST00000255381.2	-	24	3219	c.3109G>T	c.(3109-3111)Gat>Tat	p.D1037Y	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1037					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.D1037N(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACACTTACATCGTCCACTTGC	0.458000													110	55					4.07119e-57	7.96941e-57	1	1	0
DRD3	1814	broad.mit.edu	37	3	113890669	113890669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:113890669C>A	ENST00000383673.2	-	2	601	c.171G>T	c.(169-171)gaG>gaT	p.E57D	DRD3_ENST00000467632.1_Missense_Mutation_p.E57D|DRD3_ENST00000460779.1_Missense_Mutation_p.E57D|DRD3_ENST00000295881.7_Missense_Mutation_p.E57D	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	57					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCAGGGCCCGCTCCTTCAGCA	0.617000													19	93					1.01871e-10	1.42223e-10	1	1	0
CCDC81	60494	broad.mit.edu	37	11	86086284	86086284	+	Splice_Site	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:86086284G>A	ENST00000445632.2	+	1	351	c.79_splice	c.e1+1	p.E27_splice	CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Splice_Site_p.E27_splice	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	27										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GAGCCAGGAGGGTAAGCGTGT	0.637000													55	163					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352394	38352394	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:38352394G>C	ENST00000322350.5	+	5	852	c.506G>C	c.(505-507)gGa>gCa	p.G169A	EGFLAM_ENST00000354891.3_Missense_Mutation_p.G169A	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	169	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCGAGTGAAGGAAGCGCCCCT	0.527000													148	102					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23159647	23159647	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:23159647C>G	ENST00000594710.1	-	4	637	c.492G>C	c.(490-492)aaG>aaC	p.K164N		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TATGCCTTATCTTATGTCTTT	0.299000													4	22					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43709658	43709658	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:43709658G>C	ENST00000405312.3	-	1	268	c.31C>G	c.(31-33)Cag>Gag	p.Q11E	PSG4_ENST00000244295.9_Missense_Mutation_p.Q11E|PSG4_ENST00000433626.2_Missense_Mutation_p.Q11E	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	11			Q -> H (in dbSNP:rs11883278).		defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTGATGCGCTGTGTGCAGGGA	0.592000													99	30					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618116	77618116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:77618116C>A	ENST00000521891.2	+	2	2241	c.1793C>A	c.(1792-1794)cCt>cAt	p.P598H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P598H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P598H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P598H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	598						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCGAGTACTCCTGGCACACCA	0.577000										HNSCC(33;0.089)			48	77					2.46787e-29	4.56751e-29	1	1	0
ITGA2	3673	broad.mit.edu	37	5	52361752	52361752	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:52361752G>T	ENST00000296585.5	+	15	2031	c.1888G>T	c.(1888-1890)Ggg>Tgg	p.G630W		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	630					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGATTTAAATGGGGATTCCAT	0.458000													16	42					1.99824e-07	2.45031e-07	1	1	0
DVL2	1856	broad.mit.edu	37	17	7130424	7130424	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:7130424C>A	ENST00000005340.5	-	13	1810	c.1528G>T	c.(1528-1530)Ggt>Tgt	p.G510C	DVL2_ENST00000575458.1_Missense_Mutation_p.G504C	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	510					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						TCACAGCCACCACTGAGGTCT	0.567000													30	144					2.2171e-23	3.89124e-23	1	1	0
PILRA	29992	broad.mit.edu	37	7	99997517	99997517	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:99997517T>A	ENST00000453419.1	+	6	841	c.642T>A	c.(640-642)tgT>tgA	p.C214*	PILRA_ENST00000394000.2_3'UTR|PILRA_ENST00000350573.2_Missense_Mutation_p.V227D|PILRA_ENST00000198536.2_Missense_Mutation_p.V300D	NM_178272.1	NP_840056.1	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	0					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGTACTCTGTCTTAAAGGCC	0.577000													34	131					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16513681	16513681	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:16513681T>A	ENST00000502640.1	-	6	810	c.662A>T	c.(661-663)aAa>aTa	p.K221I	LDB2_ENST00000441778.2_Missense_Mutation_p.K221I|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.K221I|LDB2_ENST00000304523.5_Missense_Mutation_p.K221I|LDB2_ENST00000503178.2_Missense_Mutation_p.K97I			O43679	LDB2_HUMAN	LIM domain binding 2	221							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GTTGTAAGTTTTATGTCTCGA	0.453000													13	22					0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48457770	48457770	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:48457770G>T	ENST00000218056.5	+	3	817	c.312G>T	c.(310-312)ggG>ggT	p.G104G	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	104						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GGGCCCTGGGGGCCCGTGGGC	0.607000													11	23					0.0135373	0.0140153	1	1	0
CNTLN	54875	broad.mit.edu	37	9	17135352	17135352	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:17135352G>T	ENST00000380647.3	+	1	373	c.289G>T	c.(289-291)Gcg>Tcg	p.A97S	CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000380641.4_Missense_Mutation_p.A97S|CNTLN_ENST00000425824.1_Missense_Mutation_p.A97S|CNTLN_ENST00000262360.5_Missense_Mutation_p.A97S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	97						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GGTAGAGGAGGCGATGGTGAC	0.672000													3	9					0.014758	0.0151938	1	1	0
WDR7	23335	broad.mit.edu	37	18	54694276	54694276	+	Silent	SNP	G	G	T	rs151117603		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:54694276G>T	ENST00000254442.3	+	28	4522	c.4311G>T	c.(4309-4311)tcG>tcT	p.S1437S	WDR7_ENST00000357574.3_Silent_p.S1404S|WDR7_ENST00000589935.1_Silent_p.S14S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1437										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCTGAACTCGGCACCTCAGC	0.602000													27	69					1.04121e-07	1.30152e-07	1	1	0
RLN2	6019	broad.mit.edu	37	9	5300345	5300345	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:5300345T>C	ENST00000381627.3	-	2	699	c.311A>G	c.(310-312)gAg>gGg	p.E104G	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	104					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGGCTGCATCTCAGACAGGGT	0.368000													5	57					0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11985904	11985904	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:11985904G>A	ENST00000376572.3	-	1	576	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	KIAA2013_ENST00000376576.3_Silent_p.L131L	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	131						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGCGCTCAGCGGGCGCAGC	0.736000													4	6					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110827610	110827610	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:110827610C>A	ENST00000375820.4	-	37	3274	c.3153G>T	c.(3151-3153)caG>caT	p.Q1051H		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1051	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTGGGCCTGCCTGCCCTTTCT	0.577000													27	68					7.38237e-10	9.99292e-10	1	1	0
LTBP2	4053	broad.mit.edu	37	14	74988617	74988617	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:74988617G>T	ENST00000261978.4	-	17	3171	c.2785C>A	c.(2785-2787)Caa>Aaa	p.Q929K	LTBP2_ENST00000556690.1_Missense_Mutation_p.Q929K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	929	Cys-rich.|EGF-like 5; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCTTACCTTGACACTCCTGT	0.632000													24	61					7.88262e-20	1.32576e-19	1	1	0
RIOK1	83732	broad.mit.edu	37	6	7401232	7401232	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:7401232G>T	ENST00000379834.2	+	6	1029	c.522G>T	c.(520-522)ttG>ttT	p.L174F		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	174							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TCAAGATGTTGACTAGAGGAA	0.318000													13	10					2.27111e-07	2.77963e-07	1	1	0
SERAC1	84947	broad.mit.edu	37	6	158534625	158534625	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:158534625C>A	ENST00000367102.2	-	17	1870		c.e17-1		SERAC1_ENST00000367104.3_Splice_Site			Q96JX3	SRAC1_HUMAN	serine active site containing 1						GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GCAGGAGAATCTGTAAAATTA	0.323000													16	39					1.33834e-09	1.78722e-09	1	1	0
ACOXL	55289	broad.mit.edu	37	2	111691125	111691125	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:111691125G>T	ENST00000389811.4	+	12	1189	c.965G>T	c.(964-966)cGc>cTc	p.R322L	ACOXL_ENST00000439055.1_Missense_Mutation_p.R322L			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	322					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GTCAACAGTCGCTCGCTGCAG	0.622000													23	54					2.98393e-07	3.6486e-07	1	1	0
WDR86	349136	broad.mit.edu	37	7	151082344	151082344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:151082344G>T	ENST00000469830.2	-	4	797	c.756C>A	c.(754-756)tgC>tgA	p.C252*	WDR86_ENST00000334493.6_Intron|WDR86_ENST00000463000.1_Intron|WDR86_ENST00000477459.1_Intron			Q86TI4	WDR86_HUMAN	WD repeat domain 86	256										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCAGCTGGGGCAGCTCTGAA	0.637000													15	35					9.16793e-09	1.19461e-08	1	1	0
IGHV4-28	28400	broad.mit.edu	37	14	106780916	106780916	+	RNA	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:106780916C>G	ENST00000390612.2	-	0	101																											GAGCTGCCACCAGCAGGAGGA	0.527000													10	80					0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66811286	66811286	+	Missense_Mutation	SNP	C	C	G	rs143498680	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:66811286C>G	ENST00000393946.2	+	8	1961	c.799C>G	c.(799-801)Ccc>Gcc	p.P267A	SYT12_ENST00000527043.1_Missense_Mutation_p.P267A|SYT12_ENST00000525457.1_Missense_Mutation_p.P267A			Q8IV01	SYT12_HUMAN	synaptotagmin XII	267	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCCGCTGCAGCCCTTCAGTGG	0.557000													5	65					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374745	180374745	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:180374745G>T	ENST00000231229.4	+	4	1141	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C	BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.G303C|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000505126.1_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	164	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGGGCCCAGGCCCAAAAAA	0.483000													56	60					1.54043e-34	2.90946e-34	1	1	0
CARD14	79092	broad.mit.edu	37	17	78175557	78175557	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:78175557C>A	ENST00000573882.1	+	16	2402	c.1866C>A	c.(1864-1866)gcC>gcA	p.A622A	RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000570421.1_Silent_p.A622A|CARD14_ENST00000392434.2_Intron|RP11-334C17.5_ENST00000576824.1_RNA|CARD14_ENST00000344227.2_Silent_p.A622A			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	622	PDZ.			DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326).	activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ATTACGAAGCCTCAGAGCCCT	0.607000													32	97					8.4185e-14	1.27016e-13	1	1	0
TBC1D5	9779	broad.mit.edu	37	3	17202706	17202706	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:17202706C>T	ENST00000253692.7	-	22	3801	c.2137G>A	c.(2137-2139)Gat>Aat	p.D713N	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.D735N|TBC1D5_ENST00000429383.4_Missense_Mutation_p.D713N	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	713						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATGAAGTCATCGGAATTCCCT	0.532000													12	46					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126367607	126367607	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:126367607T>G	ENST00000394329.3	+	8	7366	c.7353T>G	c.(7351-7353)agT>agG	p.S2451R	FAT4_ENST00000335110.5_Missense_Mutation_p.S749R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2451	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTTCCACCAGTGTGCTTGTCA	0.458000													24	65					0	0	1	0	0
LRPAP1	4043	broad.mit.edu	37	4	3526684	3526684	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:3526684C>A	ENST00000500728.2	-	2	445	c.299G>T	c.(298-300)gGc>gTc	p.G100V	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	100				G -> D (in Ref. 3; BAD96247).	negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TTCGTCCAAGCCGTCAAGCTT	0.522000													27	196					2.48779e-11	3.53053e-11	1	1	0
GJA10	84694	broad.mit.edu	37	6	90605434	90605434	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:90605434G>C	ENST00000369352.1	+	1	1247	c.1247G>C	c.(1246-1248)aGt>aCt	p.S416T		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	416					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ATGAGAGAGAGTGGGGTCTGG	0.547000													11	80					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3778359	3778359	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:3778359C>A	ENST00000310132.6	-	14	1744	c.1346G>T	c.(1345-1347)tGt>tTt	p.C449F	MATK_ENST00000395045.2_Missense_Mutation_p.C450F|MATK_ENST00000395040.2_Missense_Mutation_p.C408F|MATK_ENST00000585778.1_Missense_Mutation_p.C448F	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	449	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCCTGGACAGCCCTCGGG	0.697000													45	24					2.64894e-19	4.42634e-19	1	1	0
SLC35F3	148641	broad.mit.edu	37	1	234041281	234041281	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:234041281G>A	ENST00000366618.3	+	2	205	c.60G>A	c.(58-60)atG>atA	p.M20I		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCAGTGGCATGAGGAGGTCAC	0.657000													10	27					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800857	185800857	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:185800857G>T	ENST00000302277.6	+	4	1328	c.734G>T	c.(733-735)gGa>gTa	p.G245V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	245						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTGGGAAAAGGATTTAGCAGA	0.423000													14	104					3.32936e-07	4.04414e-07	1	1	0
TPST1	8460	broad.mit.edu	37	7	65706242	65706242	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:65706242G>T	ENST00000304842.5	+	2	1255	c.830G>T	c.(829-831)gGa>gTa	p.G277V	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	277					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AAAGCTGGGGGAGTGTCTCTG	0.363000													6	19					5.68852e-11	7.98498e-11	1	1	0
OR4N4	283694	broad.mit.edu	37	15	22382683	22382683	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:22382683G>A	ENST00000328795.4	+	1	302	c.211G>A	c.(211-213)Gca>Aca	p.A71T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTCCTGGATGCATCCTACTC	0.478000													20	116					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162745581	162745581	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:162745581C>G	ENST00000367922.2	+	16	2434	c.1996C>G	c.(1996-1998)Ctt>Gtt	p.L666V	DDR2_ENST00000367921.3_Missense_Mutation_p.L666V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	666	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CAATCAGTTTCTTTCCCGCCA	0.478000													33	66					0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202337731	202337731	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:202337731G>A	ENST00000194530.3	+	5	612	c.247G>A	c.(247-249)Gga>Aga	p.G83R	STRADB_ENST00000392249.2_Missense_Mutation_p.G83R	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	83	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						TACTCCCACAGGAACACTGGT	0.363000													20	84					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66215289	66215289	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:66215289G>T	ENST00000409699.2	-	14	1866	c.1694C>A	c.(1693-1695)aCg>aAg	p.T565K	MEGF11_ENST00000360698.4_Missense_Mutation_p.T565K|MEGF11_ENST00000422354.1_Missense_Mutation_p.T565K|MEGF11_ENST00000288745.3_Missense_Mutation_p.T490K|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.T490K			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	565						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						AGGTGGACACGTGCTGTCACA	0.627000													6	31					0.000157383	0.000172347	1	1	0
FAT3	120114	broad.mit.edu	37	11	92616343	92616343	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:92616343T>A	ENST00000298047.6	+	23	12738	c.12721T>A	c.(12721-12723)Ttc>Atc	p.F4241I	FAT3_ENST00000525166.1_Missense_Mutation_p.F4091I|FAT3_ENST00000409404.2_Missense_Mutation_p.F4241I|FAT3_ENST00000533797.1_Missense_Mutation_p.F576I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4241					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACACCCTGCTTCCAGAGTGA	0.667000										TCGA Ovarian(4;0.039)			109	161					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49359961	49359961	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:49359961G>A	ENST00000301061.4	-	5	1435	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	363					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CAATGGCAGCGCTCAACTCGT	0.597000													14	96					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55333048	55333048	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:55333048C>A	ENST00000391728.4	+	5	717	c.684C>A	c.(682-684)gcC>gcA	p.A228A	KIR3DL1_ENST00000326542.7_Silent_p.A228A|KIR3DL1_ENST00000402254.2_Silent_p.A228A|KIR3DL1_ENST00000358178.4_Silent_p.A133A|KIR3DL1_ENST00000541392.1_Silent_p.A228A|KIR3DL1_ENST00000538269.1_Silent_p.A228A	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTCTCTCAGCCCAGCCGGGCC	0.572000													57	42					1.62403e-39	3.10831e-39	1	1	0
C1orf94	84970	broad.mit.edu	37	1	34677959	34677959	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:34677959C>A	ENST00000488417.1	+	6	1793	c.1673C>A	c.(1672-1674)cCc>cAc	p.P558H	C1orf94_ENST00000373374.3_Missense_Mutation_p.P368H	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	368							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CGAGACCCTCCCCTAATGGCA	0.562000													15	61					2.31682e-05	2.60794e-05	1	1	0
HOOK3	84376	broad.mit.edu	37	8	42823172	42823172	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:42823172G>T	ENST00000307602.4	+	11	1137	c.937G>T	c.(937-939)Gta>Tta	p.V313L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	313					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TTCTGATAAAGTATCTAAACT	0.338000			T	RET	papillary thyroid								11	23					1.58986e-06	1.87299e-06	1	1	0
RELN	5649	broad.mit.edu	37	7	103338412	103338412	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:103338412G>T	ENST00000424685.2	-	10	1190	c.1031C>A	c.(1030-1032)gCc>gAc	p.A344D	RELN_ENST00000343529.5_Missense_Mutation_p.A344D|RELN_ENST00000428762.1_Missense_Mutation_p.A344D			P78509	RELN_HUMAN	reelin	344					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTTATCTAAGGCCCAGCAGGC	0.468000													20	98					6.33239e-15	9.85377e-15	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196753073	196753073	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:196753073G>A	ENST00000312428.6	-	33	5415	c.5315C>T	c.(5314-5316)gCg>gTg	p.A1772V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1772	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTGACTGACGCAGGTAACAG	0.418000													8	20					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21263813	21263813	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:21263813G>T	ENST00000233242.1	-	4	507	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	APOB_ENST00000399256.4_Missense_Mutation_p.S127Y	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	127	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACTTACCTGGACATGGCTGC	0.498000													20	37					6.44725e-10	8.80101e-10	1	1	0
BCL11A	53335	broad.mit.edu	37	2	60679780	60679780	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:60679780C>T	ENST00000356842.4	-	5	2480	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	BCL11A_ENST00000538214.1_Missense_Mutation_p.G768S|BCL11A_ENST00000359629.5_Missense_Mutation_p.G218S|BCL11A_ENST00000537768.1_Missense_Mutation_p.R420Q	NM_018014.3	NP_060484.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGTACTACGCCGAATGGGGGT	0.498000			T	IGH@	B-CLL								90	41					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2411353	2411353	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:2411353G>A	ENST00000449969.1	+	3	532	c.371G>A	c.(370-372)cGc>cAc	p.R124H	PLCH2_ENST00000378488.3_Missense_Mutation_p.R151H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.R151H|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.R151H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	151	Necessary for plasma membrane localization (By similarity).|PH.				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)		ACTGGCCTGCGCTACCTCATG	0.667000													18	51					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128649	248128649	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248128649G>T	ENST00000366480.3	+	1	115	c.16G>T	c.(16-18)Gtc>Ttc	p.V6F	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			catttcagatgtcatctCCTT	0.328000													9	53					2.17888e-05	2.4591e-05	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54306093	54306093	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:54306093T>A	ENST00000545554.1	+	1	993	c.993T>A	c.(991-993)ttT>ttA	p.F331L	UNC13C_ENST00000537900.1_Missense_Mutation_p.F331L|UNC13C_ENST00000260323.11_Missense_Mutation_p.F331L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	331					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)		AAGAAAGATTTGAATATGTTG	0.363000													7	45					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431814	26431814	+	RNA	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:26431814C>T	ENST00000466808.2	+	0	1762																		p.P578T(2)									ACTAGTTGTTCCACAGCTCCC	0.483000													36	76					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151511866	151511866	+	Splice_Site	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:151511866G>A	ENST00000535741.1	-	39	6665	c.6193_splice	c.e39+1	p.A2064_splice	LRBA_ENST00000357115.3_Splice_Site_p.A2075_splice|LRBA_ENST00000507224.1_Splice_Site_p.A2064_splice|LRBA_ENST00000510413.1_Splice_Site_p.A2064_splice			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2075						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.A2075A(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CAAATTTACCGGCAAGATTCT	0.413000													21	30					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141660572	141660572	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:141660572C>T	ENST00000389484.3	-	23	4654	c.3683G>A	c.(3682-3684)tGt>tAt	p.C1228Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1228					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)		GTGCTGCTCACATACTTGGCT	0.398000										TSP Lung(27;0.18)			9	70					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552312	100552312	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:100552312C>T	ENST00000319509.7	+	1	1063	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCCCACCACCCCATTAACAGT	0.453000													79	131					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555470	10555470	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:10555470C>A	ENST00000304519.5	+	3	632	c.603C>A	c.(601-603)ttC>ttA	p.F201L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	201										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		AGAAGGCGTTCGCTGCCGCCG	0.711000													14	15					0.000219431	0.000239684	1	1	0
MEIS1	4211	broad.mit.edu	37	2	66665007	66665007	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:66665007C>A	ENST00000488550.1	+	2	450	c.151C>A	c.(151-153)Ccg>Acg	p.P51T	MEIS1_ENST00000272369.9_Missense_Mutation_p.P51T|MEIS1_ENST00000444274.2_Missense_Mutation_p.P19T|MEIS1_ENST00000560281.2_Missense_Mutation_p.P51T|MEIS1_ENST00000398506.2_Missense_Mutation_p.P49T|MEIS1_ENST00000407092.2_Missense_Mutation_p.P51T			O00470	MEIS1_HUMAN	Meis homeobox 1	51							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GCATCAGTACCCGCACACAGC	0.572000													18	12					5.35267e-07	6.4232e-07	1	1	0
PTPRF	5792	broad.mit.edu	37	1	44085868	44085868	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:44085868G>A	ENST00000359947.4	+	30	5554	c.5214G>A	c.(5212-5214)ctG>ctA	p.L1738L	PTPRF_ENST00000422171.2_Silent_p.L1097L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Silent_p.L1729L|PTPRF_ENST00000372413.3_Silent_p.L1729L|PTPRF_ENST00000372414.3_Silent_p.L1738L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1738	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCGTCATGCTGACCAAGCTTC	0.612000													36	83					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40498719	40498719	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:40498719T>A	ENST00000309930.5	+	11	953	c.929T>A	c.(928-930)tTg>tAg	p.L310*	C7orf10_ENST00000335693.4_Nonsense_Mutation_p.L310*|C7orf10_ENST00000401647.2_Nonsense_Mutation_p.L262*	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	310							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTGCCTGAGTTGATTGATAAT	0.338000													6	10					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090745	238090745	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:238090745G>T	ENST00000450451.1	+	0	2251					NR_027247.2																						CACCACCTCGGCCCAGCGGGA	0.617000													5	15					0.184627	0.185779	1	1	0
TRBV5-1	28614	broad.mit.edu	37	7	142021073	142021073	+	RNA	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:142021073C>G	ENST00000390381.3	+	0	362																											CCCACAGGCCCAGTAAAGGCT	0.532000													6	30					0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83552496	83552496	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:83552496C>G	ENST00000319540.4	-	5	1296	c.977G>C	c.(976-978)gGa>gCa	p.G326A		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	326					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				ACTGCTGTCTCCAGTCCTGGC	0.552000													15	27					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748919	152748919	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:152748919C>A	ENST00000334371.2	+	1	72	c.72C>A	c.(70-72)tgC>tgA	p.C24*		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	24	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcccaagtgccccacaccga	0.652000													42	110					7.53189e-24	1.32916e-23	1	1	0
RBM25	58517	broad.mit.edu	37	14	73576177	73576177	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:73576177G>T	ENST00000261973.7	+	14	1954	c.1669G>T	c.(1669-1671)Gat>Tat	p.D557Y	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.D557Y	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	557	Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AGGGCATCCAGATCCAGATGC	0.557000													28	89					2.12542e-12	3.11567e-12	1	1	0
CDH22	64405	broad.mit.edu	37	20	44815328	44815328	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:44815328C>A	ENST00000372262.3	-	9	1962	c.1562G>T	c.(1561-1563)aGc>aTc	p.S521I	CDH22_ENST00000537909.1_Missense_Mutation_p.S521I	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	521	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GTCCACCACGCTGATGGTCTG	0.592000													33	68					2.68265e-12	3.9236e-12	1	1	0
MORN1	79906	broad.mit.edu	37	1	2305942	2305942	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:2305942C>T	ENST00000378531.3	-	7	765	c.592G>A	c.(592-594)Ggg>Agg	p.G198R	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.G198R	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	198										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)		TAGGTGACCCCTGAGCAGTGG	0.622000													5	11					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133584673	133584673	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:133584673C>A	ENST00000519595.1	-	12	1380	c.1282G>T	c.(1282-1284)Gtg>Ttg	p.V428L	LRRC6_ENST00000518642.1_3'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.V428L			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	428						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATGTTAGTCACATCAGGGAAT	0.398000													20	145					5.35267e-07	6.4232e-07	1	1	0
HMGCLL1	54511	broad.mit.edu	37	6	55300531	55300531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:55300531C>A	ENST00000398661.2	-	10	1173	c.1042G>T	c.(1042-1044)Ggt>Tgt	p.G348C	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G318C|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.G152C|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G286C|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G215C|HMGCLL1_ENST00000507223.1_5'UTR	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	348							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATAAAGTCACCAGCTTCCATC	0.393000													19	14					6.94344e-10	9.40866e-10	1	1	0
DDX46	9879	broad.mit.edu	37	5	134102700	134102700	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:134102700G>T	ENST00000452510.2	+	3	458	c.300G>T	c.(298-300)cgG>cgT	p.R100R	DDX46_ENST00000354283.4_Silent_p.R100R	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	100	Arg-rich.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCGGGGCCGGCGATCCCGAT	0.502000													11	34					0.00010058	0.000110518	1	1	0
LILRP2	79166	broad.mit.edu	37	19	55220465	55220465	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:55220465G>T	ENST00000413439.1	+	0	603																											TCTGGTGCCAGGGGACCCTGG	0.592000													10	6					2.17888e-05	2.4591e-05	1	1	0
GH2	2689	broad.mit.edu	37	17	61957664	61957664	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:61957664G>C	ENST00000456543.2	-	5	707	c.667C>G	c.(667-669)Cct>Gct	p.P223A	GH2_ENST00000423893.2_3'UTR|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GGGGTCACAGGGATGCCACCC	0.562000													11	77					0	0	1	0	0
IFNB1	3456	broad.mit.edu	37	9	21077533	21077533	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:21077533G>T	ENST00000380232.2	-	1	410	c.336C>A	c.(334-336)gtC>gtA	p.V112V		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	112					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TCTGATGATAGACATTAGCCA	0.418000													57	45					2.48909e-17	4.04398e-17	1	1	0
NEFL	4747	broad.mit.edu	37	8	24814060	24814060	+	RNA	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:24814060C>T	ENST00000221169.5	-	0	564							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGGCCCGCGGCGGCGGTGGGA	0.682000													5	12					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64957294	64957294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:64957294C>A	ENST00000399262.2	-	13	5739	c.5521G>T	c.(5521-5523)Gga>Tga	p.G1841*	JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.G1659*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.G1622*|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1841					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCCCGGACTCCTCTCACTGCT	0.398000													22	32					1.96292e-10	2.7082e-10	1	1	0
FLG	2312	broad.mit.edu	37	1	152278846	152278846	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:152278846C>G	ENST00000368799.1	-	3	8551	c.8516G>C	c.(8515-8517)aGa>aCa	p.R2839T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2839	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)			ACGTGTTGTTCTGCTTGCACT	0.557000									Ichthyosis				56	462					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094601	150094601	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:150094601C>T	ENST00000329630.5	+	3	1139	c.1032C>T	c.(1030-1032)cgC>cgT	p.R344R		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTGTGGCCGCGGCTTCCGCC	0.736000													3	22					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120594737	120594737	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:120594737C>G	ENST00000427067.2	-	18	1817	c.1637G>C	c.(1636-1638)aGa>aCa	p.R546T	ENPP2_ENST00000522826.1_Missense_Mutation_p.R550T|ENPP2_ENST00000522167.1_Missense_Mutation_p.R189T|ENPP2_ENST00000259486.6_Missense_Mutation_p.R602T|ENPP2_ENST00000075322.6_Missense_Mutation_p.R550T			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	550					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATAATTGGGTCTGGTAACTTC	0.443000													45	148					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110827609	110827609	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:110827609C>A	ENST00000375820.4	-	37	3275	c.3154G>T	c.(3154-3156)Gca>Tca	p.A1052S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1052	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGTGGGCCTGCCTGCCCTTTC	0.582000													27	69					1.12875e-08	1.46931e-08	1	1	0
OR10J1	26476	broad.mit.edu	37	1	159409940	159409940	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:159409940A>G	ENST00000423932.3	+	1	429	c.392A>G	c.(391-393)tAt>tGt	p.Y131C	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	131					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GCAATGGGATATGACCGCTAT	0.507000													22	58					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51705310	51705310	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:51705310C>A	ENST00000522124.1	+	19	2136	c.1475C>A	c.(1474-1476)cCt>cAt	p.P492H	SNTG1_ENST00000276467.5_Missense_Mutation_p.P455H|SNTG1_ENST00000517473.1_Missense_Mutation_p.P455H|SNTG1_ENST00000518864.1_Missense_Mutation_p.P492H	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	492					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			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)				TGTTTGGACCCTCTATTTTTA	0.413000													19	72					1.15919e-05	1.33038e-05	1	1	0
HIST1H4C	8364	broad.mit.edu	37	6	26104474	26104474	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:26104474G>T	ENST00000377803.2	+	1	371	c.299G>T	c.(298-300)gGc>gTc	p.G100V		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	100					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						ACTCTGTATGGCTTCGGCGGC	0.498000													9	54					0.000274275	0.000296825	1	1	0
GATM	2628	broad.mit.edu	37	15	45656215	45656215	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:45656215C>A	ENST00000396659.3	-	8	1382		c.e8-1		GATM_ENST00000558336.1_Splice_Site	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)						creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	AGTGGATGATCTAAAAACAGC	0.358000													5	17					0.00116845	0.00124057	1	1	0
TYRO3	7301	broad.mit.edu	37	15	41860421	41860421	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:41860421C>A	ENST00000263798.3	+	8	1192	c.968C>A	c.(967-969)gCc>gAc	p.A323D	TYRO3_ENST00000559066.1_Missense_Mutation_p.A278D	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	323	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCAGCCCCAGCCAGCGCTCCC	0.552000													9	47					7.48243e-07	8.92083e-07	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108437126	108437126	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:108437126G>T	ENST00000263054.6	-	13	1784	c.1777C>A	c.(1777-1779)Caa>Aaa	p.Q593K	SORCS1_ENST00000369698.1_Missense_Mutation_p.Q128K|SORCS1_ENST00000344440.6_Missense_Mutation_p.Q593K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	593						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACTCCACCTTGATCCAGGTAC	0.468000													13	35					4.3838e-07	5.28514e-07	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60616826	60616826	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:60616826C>A	ENST00000400324.4	-	5	844	c.624G>T	c.(622-624)gtG>gtT	p.V208V	DIAPH3_ENST00000377908.2_Silent_p.V197V|DIAPH3_ENST00000267215.4_Silent_p.V208V|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000400330.1_Silent_p.V208V|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400320.1_Silent_p.V162V|DIAPH3_ENST00000400319.1_Silent_p.V138V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	208	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TGAATTACCTCACAGGATTGC	0.408000													10	19					2.17888e-05	2.4591e-05	1	1	0
ALS2CL	259173	broad.mit.edu	37	3	46728572	46728572	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:46728572C>A	ENST00000318962.4	-	5	518	c.435G>T	c.(433-435)tcG>tcT	p.S145S	ALS2CL_ENST00000415953.1_Silent_p.S145S	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	145					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ATGCGCCCACCGAGCCCTCTG	0.677000													5	13					0.184627	0.185779	1	1	0
ROBO1	6091	broad.mit.edu	37	3	79174665	79174665	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:79174665T>G	ENST00000464233.1	-	3	226	c.113A>C	c.(112-114)aAc>aCc	p.N38T		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	38					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)		CCCGTGGTCGTTCCCCCTCTC	0.498000													4	17					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103461461	103461461	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:103461461C>A	ENST00000358392.2	-	28	2652	c.2335G>T	c.(2335-2337)Gca>Tca	p.A779S	COL11A1_ENST00000353414.4_Missense_Mutation_p.A728S|COL11A1_ENST00000512756.1_Missense_Mutation_p.A651S|COL11A1_ENST00000370096.3_Missense_Mutation_p.A767S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	767	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)		ACACCATCTGCTCCCTGTGGA	0.313000													23	42					1.22574e-08	1.59235e-08	1	1	0
MAK16	84549	broad.mit.edu	37	8	33346310	33346310	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:33346310G>T	ENST00000360128.6	+	4	691	c.234G>T	c.(232-234)tgG>tgT	p.W78C	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	78						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						GGCGTCTCTGGGAACGGGTAA	0.418000													12	24					1.08611e-07	1.34075e-07	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139164269	139164269	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:139164269C>T	ENST00000395297.1	-	13	2619	c.2449G>A	c.(2449-2451)Ggt>Agt	p.G817S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	817										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCAGAGTCACCACAAAGTTGA	0.517000										HNSCC(54;0.14)			47	56					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110085658	110085658	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:110085658C>A	ENST00000527748.1	+	2	697	c.14C>A	c.(13-15)cCc>cAc	p.P5H	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	5						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGTCCTCACCCATCCCCCAG	0.652000													18	32					6.49762e-13	9.59031e-13	1	1	0
SVOP	55530	broad.mit.edu	37	12	109311865	109311865	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:109311865G>C	ENST00000299134.5	-	12	1107	c.1108C>G	c.(1108-1110)Cgt>Ggt	p.R370G		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						AGAAATAAACGCTCTTGCAAT	0.493000													3	5					0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75913974	75913974	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:75913974G>T	ENST00000296641.4	-	2	761	c.558C>A	c.(556-558)tgC>tgA	p.C186*	IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Nonsense_Mutation_p.C164*|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	186					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TGATGCTGATGCAGGCAAGGA	0.547000													7	34					0.248553	0.249326	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81167264	81167264	+	RNA	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:81167264C>T	ENST00000533478.1	-	0	3816				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_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						TGGTAGACATCCCTGCTGCTG	0.557000													6	19					0	0	1	0	0
IL7	3574	broad.mit.edu	37	8	79645960	79645960	+	Silent	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:79645960A>T	ENST00000263851.4	-	6	1122	c.522T>A	c.(520-522)acT>acA	p.T174T	IL7_ENST00000520269.1_Silent_p.T130T|IL7_ENST00000541183.1_Silent_p.T61T|IL7_ENST00000519833.1_Intron	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	174					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						AGTGTTCTTTAGTGCCCATCA	0.333000													6	48					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230804426	230804426	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:230804426C>G	ENST00000534989.1	+	6	648	c.313C>G	c.(313-315)Ctt>Gtt	p.L105V	COG2_ENST00000366669.4_Missense_Mutation_p.L164V|COG2_ENST00000535166.1_Missense_Mutation_p.L48V|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000366668.3_Missense_Mutation_p.L164V			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	164					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TACTAGCCCCCTTTTGACTGG	0.418000													21	38					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7050767	7050767	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:7050767G>T	ENST00000389658.3	-	4	607	c.514C>A	c.(514-516)Ccc>Acc	p.P172T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	172	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTAGGTGGGTGGCCCTCGT	0.527000													10	34					1.33987e-11	1.91622e-11	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55566673	55566673	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:55566673C>G	ENST00000373965.2	-	36	5115	c.4721G>C	c.(4720-4722)cGa>cCa	p.R1574P	PCDH15_ENST00000414778.1_Missense_Mutation_p.R1571P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	425					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCTCCCAGTCGAACAGGGGA	0.448000										HNSCC(58;0.16)			70	51					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499956	104499956	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:104499956C>A	ENST00000361820.3	-	1	906	c.306G>T	c.(304-306)ctG>ctT	p.L102L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	102					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCCGGCCATGCAGGGTGCTCC	0.751000													6	24					3.59834e-05	4.00851e-05	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248308608	248308608	+	Silent	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248308608C>G	ENST00000366476.1	+	1	159	c.159C>G	c.(157-159)acC>acG	p.T53T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACCTGGACACCCAGCTCCACA	0.527000													49	218					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154318006	154318006	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:154318006T>A	ENST00000368489.3	+	23	2778	c.2778T>A	c.(2776-2778)tgT>tgA	p.C926*		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	912					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTTCTTCTGTGGCTTCTCAG	0.468000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	393					0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538426	152538426	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:152538426C>T	ENST00000368789.1	-	2	314	c.259G>A	c.(259-261)Ggt>Agt	p.G87S		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	87					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CCCCCAGAACCGTGGCAGCAG	0.617000													47	224					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233194685	233194685	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:233194685C>T	ENST00000325385.7	+	15	2178	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	DIS3L2_ENST00000409307.1_Silent_p.F634F|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	634							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CCGTGGACTTCAGCTCCGCAG	0.652000													14	77					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149278032	149278032	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:149278032G>T	ENST00000255266.5	-	10	1420	c.1301C>A	c.(1300-1302)cCt>cAt	p.P434H		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	434					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATAGGTGTCAGGATTTAAGAC	0.343000													7	20					8.12818e-05	8.94655e-05	1	1	0
CCDC28B	79140	broad.mit.edu	37	1	32670827	32670827	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:32670827C>A	ENST00000373602.5	+	6	928	c.581C>A	c.(580-582)cCt>cAt	p.P194H	RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000421922.2_3'UTR	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	194										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACGCCGAGCCTGAGGAGCAG	0.622000													13	30					1.49906e-05	1.70378e-05	1	1	0
ATP6AP1	537	broad.mit.edu	37	X	153662611	153662611	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:153662611C>G	ENST00000369762.2	+	7	803	c.742C>G	c.(742-744)Cag>Gag	p.Q248E	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	248					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GCTACAAAAACAGCCAGTATC	0.577000													26	67					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44152609	44152609	+	Silent	SNP	C	C	T	rs150005580	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:44152609C>T	ENST00000223357.3	+	19	2894	c.2589C>T	c.(2587-2589)taC>taT	p.Y863Y	AEBP1_ENST00000450684.2_Silent_p.Y438Y	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	863	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACTTCAGTTACCTGCATACCA	0.607000													63	148					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141214151	141214151	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:141214151A>G	ENST00000389484.3	-	62	10807	c.9836T>C	c.(9835-9837)aTa>aCa	p.I3279T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3279					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)		ACCATTATTTATCATGCAGAG	0.378000										TSP Lung(27;0.18)			19	53					0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681845	142681845	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:142681845C>A	ENST00000340634.3	-	1	333	c.334G>T	c.(334-336)Gtg>Ttg	p.V112L	RP11-372E1.6_ENST00000594095.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	112						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TGGAAGGGCACGTCGCCGCCG	0.622000													11	48					9.70103e-10	1.30766e-09	1	1	0
SIRPB1	10326	broad.mit.edu	37	20	1551693	1551693	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:1551693C>A	ENST00000381605.4	-	4	906	c.842G>T	c.(841-843)gGa>gTa	p.G281V	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	281	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						CAGCTGTAGTCCCCGGGGGTA	0.542000													29	50					3.1745e-13	4.70161e-13	1	1	0
LILRP2	79166	broad.mit.edu	37	19	55220466	55220466	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:55220466G>T	ENST00000413439.1	+	0	604																											CTGGTGCCAGGGGACCCTGGA	0.587000													11	6					3.86212e-05	4.28386e-05	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48349544	48349544	+	Splice_Site	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:48349544G>A	ENST00000435803.1	+	24	9346	c.9321_splice	c.e24-1	p.V3108_splice		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3108					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGAAACAGGTTCTCTTCAG	0.502000													11	46					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34182013	34182013	+	Silent	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:34182013C>G	ENST00000373381.4	-	20	3266	c.3090G>C	c.(3088-3090)ctG>ctC	p.L1030L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	990	CUB 6.					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)				TTAGCTGCCTCAGGGGCTGGG	0.557000													16	53					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78708958	78708958	+	Splice_Site	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:78708958C>G	ENST00000436010.2	-	15	3201		c.e15-1		ROBO1_ENST00000467549.1_Splice_Site|ROBO1_ENST00000464233.1_Splice_Site|ROBO1_ENST00000495273.1_Splice_Site			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)						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)		GCACTGGGTGCTATTAAATTG	0.373000													2	6					0	0	1	0	0
R3HDML	140902	broad.mit.edu	37	20	42979332	42979332	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:42979332T>A	ENST00000217043.2	+	5	834	c.662T>A	c.(661-663)aTg>aAg	p.M221K	RP5-881L22.5_ENST00000438702.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	221						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCGTACAAGATGGGAAAGCCG	0.527000													17	89					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423251	107423251	+	Silent	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:107423251C>G	ENST00000409382.3	-	6	2083	c.1473G>C	c.(1471-1473)ctG>ctC	p.L491L	ST6GAL2_ENST00000361686.4_Silent_p.L491L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	491					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGCGCTGCACCAGGAGCTTCT	0.632000													26	116					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15212341	15212341	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:15212341T>A	ENST00000379554.3	+	6	861	c.815T>A	c.(814-816)tTg>tAg	p.L272*	INSC_ENST00000424273.1_Nonsense_Mutation_p.L225*|INSC_ENST00000530161.1_Nonsense_Mutation_p.L225*|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Nonsense_Mutation_p.L225*|INSC_ENST00000379556.3_Nonsense_Mutation_p.L225*|INSC_ENST00000525218.1_Nonsense_Mutation_p.L225*	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	272					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGGGCTCCCTTGTGCCGCATC	0.522000													63	48					0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39578661	39578661	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:39578661A>T	ENST00000225550.3	-	4	757	c.758T>A	c.(757-759)cTg>cAg	p.L253Q	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	253	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CTTCTCCCCCAGCTGACTCCT	0.562000													136	140					0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75184942	75184942	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:75184942C>A	ENST00000417775.1	-	5	883	c.379G>T	c.(379-381)Gct>Tct	p.A127S	CRYZ_ENST00000340866.5_Missense_Mutation_p.A127S|CRYZ_ENST00000370872.3_Intron|CRYZ_ENST00000370871.3_Missense_Mutation_p.A127S	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	127					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	CCGATGGCAGCTCCTTGTTTA	0.433000													8	45					0.0381472	0.0389011	1	1	0
AMPH	273	broad.mit.edu	37	7	38433689	38433689	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:38433689C>T	ENST00000356264.2	-	18	1739	c.1524G>A	c.(1522-1524)gaG>gaA	p.E508E	AMPH_ENST00000428293.2_Silent_p.E466E|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Silent_p.E466E	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	508					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTTTGGCCTCCTCTAAACTTA	0.582000													29	113					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9310390	9310390	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:9310390G>T	ENST00000261336.2	-	27	3370	c.3342C>A	c.(3340-3342)gcC>gcA	p.A1114A	PZP_ENST00000381997.2_Silent_p.A900A	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTCCAGAAGGGCAATAGTAA	0.448000													12	13					1.5842e-08	2.04362e-08	1	1	0
SI	6476	broad.mit.edu	37	3	164737395	164737395	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:164737395G>T	ENST00000264382.3	-	28	3480	c.3418C>A	c.(3418-3420)Cct>Act	p.P1140T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1140	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCTACACCAGGGGGTTGGTCT	0.443000										HNSCC(35;0.089)			9	40					0.000274275	0.000296825	1	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84606978	84606978	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:84606978C>T	ENST00000344803.2	+	4	1640	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TGTTTGTATTCTTCAATGGCA	0.483000													24	38					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15537580	15537580	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:15537580A>G	ENST00000344577.2	-	6	953	c.928T>C	c.(928-930)Tgt>Cgt	p.C310R	LIPI_ENST00000536861.1_Missense_Mutation_p.C289R	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	289					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAACAGTCACAGTCCACACAT	0.313000													12	19					0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44699458	44699458	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:44699458A>C	ENST00000281543.5	+	16	2063	c.1869A>C	c.(1867-1869)aaA>aaC	p.K623N	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	623					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTTGGCAAAATGTGTATGTA	0.294000													3	9					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49848453	49848453	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:49848453A>T	ENST00000333486.3	-	10	1352	c.1194T>A	c.(1192-1194)gaT>gaA	p.D398E		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	398	2 approximate repeats.				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)		GGAGCTCCCCATCTTCCGGAA	0.567000													8	40					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152225754	152225754	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:152225754G>C	ENST00000447306.1	+	2	678	c.342G>C	c.(340-342)agG>agC	p.R114S	PNMA3_ENST00000370264.4_Missense_Mutation_p.R114S|PNMA3_ENST00000370265.4_Missense_Mutation_p.R114S	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	114					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggagaggcggaccgtgt	0.532000													33	12					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133918387	133918387	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:133918387C>T	ENST00000298622.4	+	1	213	c.75C>T	c.(73-75)aaC>aaT	p.N25N		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGCGGCCAACGAGGATCTTC	0.652000													3	6					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34018622	34018622	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:34018622C>T	ENST00000389232.4	+	46	7018	c.6948C>T	c.(6946-6948)atC>atT	p.I2316I	RYR3_ENST00000415757.3_Silent_p.I2316I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2316	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATCCGCATCAGGTCCATCC	0.552000													6	5					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522451	23522451	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:23522451C>A	ENST00000296682.3	+	7	729	c.547C>A	c.(547-549)Ctg>Atg	p.L183M		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	183					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GATGTATAGCCTGCGAGAAAG	0.458000										HNSCC(3;0.000094)			54	55					2.27459e-33	4.27107e-33	1	1	0
FBXL7	23194	broad.mit.edu	37	5	15937077	15937077	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:15937077C>A	ENST00000504595.1	+	4	1739	c.1258C>A	c.(1258-1260)Ctg>Atg	p.L420M	FBXL7_ENST00000329673.7_Missense_Mutation_p.L408M|FBXL7_ENST00000510662.1_Missense_Mutation_p.L373M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	420					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGACACGGGCCTGGAGTGCCT	0.602000													20	58					1.96292e-10	2.7082e-10	1	1	0
CADM2	253559	broad.mit.edu	37	3	85932530	85932530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:85932530C>T	ENST00000383699.3	+	4	955	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	CADM2_ENST00000407528.2_Nonsense_Mutation_p.Q101*|CADM2_ENST00000405615.2_Nonsense_Mutation_p.Q103*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	101	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGATGAAGGACAGTACACCTG	0.438000													3	21					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272200	164272200	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:164272200C>A	ENST00000515560.1	+	4	2297	c.775C>A	c.(775-777)Ctt>Att	p.L259I	NPY5R_ENST00000338566.3_Missense_Mutation_p.L259I|NPY5R_ENST00000506953.1_Missense_Mutation_p.L259I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	259					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CAACTTAACTCTTCATCCATC	0.373000													15	38					3.52763e-06	4.10708e-06	1	1	0
ITIH1	3697	broad.mit.edu	37	3	52815976	52815976	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:52815976C>A	ENST00000273283.2	+	7	732	c.708C>A	c.(706-708)ccC>ccA	p.P236P	ITIH1_ENST00000540715.1_Silent_p.P94P|ITIH1_ENST00000542827.1_Silent_p.P236P|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	236					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTTCCGTCCCACCGTGAGCC	0.522000													17	44					1.02788e-11	1.4733e-11	1	1	0
RP1	6101	broad.mit.edu	37	8	55541128	55541128	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:55541128G>A	ENST00000220676.1	+	4	4834	c.4686G>A	c.(4684-4686)atG>atA	p.M1562I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1562					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGTAAAAATGATGGTGAAAA	0.378000													14	13					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92837983	92837983	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:92837983G>T	ENST00000394468.2	-	4	999	c.922C>A	c.(922-924)Cag>Aag	p.Q308K	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.Q296K|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.Q296K|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.Q331K	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	308	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						ATTGTCTTCTGGGCTACTTTC	0.443000													9	51					0.0581538	0.0592094	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31332905	31332905	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:31332905C>T	ENST00000544665.3	+	16	2033	c.1962C>T	c.(1960-1962)gtC>gtT	p.V654V	ITGAM_ENST00000287497.8_Silent_p.V653V	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	653					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGTCAGAGTCTGCCTCCATG	0.512000													24	61					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55886846	55886846	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:55886846A>C	ENST00000521992.1	-	11	1452	c.1307T>G	c.(1306-1308)cTt>cGt	p.L436R	CES5A_ENST00000319165.9_Missense_Mutation_p.L407R|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Missense_Mutation_p.L301R|CES5A_ENST00000520435.1_Missense_Mutation_p.L377R|CES5A_ENST00000290567.9_Missense_Mutation_p.L407R	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	407						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CACATCTCCAAGCAAGTCCAG	0.507000													6	46					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535777	69535777	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:69535777C>A	ENST00000338206.5	-	1	569	c.560G>T	c.(559-561)gGa>gTa	p.G187V		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	187					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GAACAGAAATCCTCCACCATT	0.373000													29	70					0.000279167	0.000301865	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101374853	101374853	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:101374853G>A	ENST00000344327.3	-	2	1271	c.847C>T	c.(847-849)Ccg>Tcg	p.P283S	TRPC6_ENST00000532133.1_Missense_Mutation_p.P283S|TRPC6_ENST00000348423.4_Missense_Mutation_p.P283S|TRPC6_ENST00000360497.4_Missense_Mutation_p.P283S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	283					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.P283T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGGTAAGCCGGACTTGCCAGG	0.438000													15	144					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626463	1626463	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:1626463C>A	ENST00000421627.2	+	9	2266	c.2132C>A	c.(2131-2133)aCc>aAc	p.T711N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	790					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGCCACATCACCACGGAGGAC	0.612000													15	74					3.27435e-08	4.14516e-08	1	1	0
DSEL	92126	broad.mit.edu	37	18	65178365	65178365	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:65178365T>C	ENST00000310045.7	-	2	4984	c.3511A>G	c.(3511-3513)Acc>Gcc	p.T1171A	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1161						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)				TTTGTAGAGGTGGCAAACAAT	0.343000													11	10					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54674541	54674541	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:54674541C>A	ENST00000546500.1	+	0	565				HNRNPA1_ENST00000340913.6_De_novo_Start_OutOfFrame|RP11-968A15.8_ENST00000553061.1_RNA			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1						interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CCTTTCTGCCCGTGGACGCCG	0.547000													18	83					2.35188e-11	3.34133e-11	1	1	0
TNIK	23043	broad.mit.edu	37	3	170843934	170843934	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:170843934G>A	ENST00000436636.2	-	17	2124	c.1780C>T	c.(1780-1782)Cat>Tat	p.H594Y	TNIK_ENST00000470834.1_Missense_Mutation_p.H565Y|TNIK_ENST00000357327.5_Missense_Mutation_p.H565Y|TNIK_ENST00000369326.5_Missense_Mutation_p.H565Y|TNIK_ENST00000538048.1_Missense_Mutation_p.H539Y|TNIK_ENST00000460047.1_Missense_Mutation_p.H539Y|TNIK_ENST00000488470.1_Missense_Mutation_p.H539Y|TNIK_ENST00000475336.1_Missense_Mutation_p.H510Y|TNIK_ENST00000341852.6_Missense_Mutation_p.H510Y|TNIK_ENST00000284483.8_Missense_Mutation_p.H594Y	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	594	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCTACCAGATGTGGGATCTAA	0.468000													93	49					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516198	140516198	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:140516198C>A	ENST00000231134.5	+	1	1399	c.1182C>A	c.(1180-1182)ccC>ccA	p.P394P		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		394	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTGAAGCCCACATTAAAAA	0.473000													24	64					3.5997e-14	5.50844e-14	1	1	0
ZNF229	7772	broad.mit.edu	37	19	44933628	44933628	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:44933628C>A	ENST00000291187.4	-	6	1632	c.1310G>T	c.(1309-1311)tGt>tTt	p.C437F	ZNF229_ENST00000588931.1_Missense_Mutation_p.C443F|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGACTTGGCACAGAAGCCTTT	0.562000													9	59					0.000274275	0.000296825	1	1	0
ADORA3	140	broad.mit.edu	37	1	112042962	112042962	+	Silent	SNP	G	G	T	rs141827119		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:112042962G>T	ENST00000241356.4	-	2	972	c.567C>A	c.(565-567)ccC>ccA	p.P189P	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	189					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.P189P(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TGACAACCAGGGGGATGAAAA	0.418000													25	58					3.08376e-08	3.927e-08	1	1	0
DMWD	1762	broad.mit.edu	37	19	46295691	46295691	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:46295691C>A	ENST00000270223.6	-	1	369	c.324G>T	c.(322-324)ggG>ggT	p.G108G	DMWD_ENST00000377735.3_Silent_p.G108G|DMWD_ENST00000601370.1_5'UTR	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	108					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		gctccccggccccggcgcTGT	0.791000													11	8					1.08611e-07	1.34075e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179480433	179480433	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:179480433C>G	ENST00000589042.1	-	258	48619	c.48395G>C	c.(48394-48396)cGt>cCt	p.R16132P	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7259P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7067P|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13564P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14491P|TTN_ENST00000359218.5_Missense_Mutation_p.R7192P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14491	Fibronectin type-III 17.						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)			ACATTTGTTACGAGCACAAAC	0.373000													25	78					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103251195	103251195	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:103251195G>T	ENST00000424685.2	-	22	3114	c.2955C>A	c.(2953-2955)gcC>gcA	p.A985A	RELN_ENST00000343529.5_Silent_p.A985A|RELN_ENST00000428762.1_Silent_p.A985A			P78509	RELN_HUMAN	reelin	985					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAAACTCACTGGCATGGTAAA	0.408000													11	52					2.32078e-09	3.08005e-09	1	1	0
NCOA4	8031	broad.mit.edu	37	10	51580584	51580584	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:51580584G>T	ENST00000452682.1	+	4	470	c.218G>T	c.(217-219)aGc>aTc	p.S73I	NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000443446.1_Missense_Mutation_p.S57I|NCOA4_ENST00000344348.6_Missense_Mutation_p.S57I|NCOA4_ENST00000374087.4_Missense_Mutation_p.S57I|NCOA4_ENST00000374082.1_Missense_Mutation_p.S57I|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000430396.2_5'UTR|NCOA4_ENST00000438493.1_Missense_Mutation_p.S73I	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	57					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AGTTGCATAAGCCGTCACCTG	0.428000			T	RET	papillary thyroid								29	86					1.88708e-17	3.08535e-17	1	1	0
MIB2	142678	broad.mit.edu	37	1	1565032	1565032	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:1565032G>T	ENST00000357210.4	+	19	2967	c.2751G>T	c.(2749-2751)agG>agT	p.R917S	MIB2_ENST00000378708.1_Missense_Mutation_p.R823S|MIB2_ENST00000520777.1_Missense_Mutation_p.R970S|MIB2_ENST00000518681.1_Missense_Mutation_p.R909S|MIB2_ENST00000378712.1_Missense_Mutation_p.D734Y|MIB2_ENST00000360522.4_Missense_Mutation_p.R882S|MIB2_ENST00000505820.2_Missense_Mutation_p.R974S|MIB2_ENST00000504599.1_Missense_Mutation_p.R873S|MIB2_ENST00000355826.5_Missense_Mutation_p.R960S|MIB2_ENST00000378710.3_Missense_Mutation_p.R881S	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	917					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGCGCGCAGGATGAAGAAGT	0.687000													13	22					1.5842e-08	2.04362e-08	1	1	0
LOC101927958	101927958	broad.mit.edu	37	2	239141397	239141397	+	RNA	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:239141397C>A	ENST00000456601.1	+	0	906																											GCCAGCGAAGCAGCCAGGCCC	0.532000													9	28					1.12685e-05	1.29442e-05	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30934506	30934506	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:30934506G>T	ENST00000355537.3	+	2	184	c.37G>T	c.(37-39)Gcg>Tcg	p.A13S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTGTCTTCGGCGGAGCCGGA	0.607000													107	243					9.79686e-34	1.84496e-33	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46930627	46930627	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:46930627G>A	ENST00000264318.3	-	9	2262	c.1280C>T	c.(1279-1281)tCt>tTt	p.S427F		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	427					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGCTAAGTAAGACCGAGGTGT	0.458000													14	51					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52981604	52981604	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:52981604G>T	ENST00000293745.2	-	7	1206	c.1121C>A	c.(1120-1122)gCt>gAt	p.A374D	KRT72_ENST00000398066.3_Missense_Mutation_p.A186D|KRT72_ENST00000537672.2_Missense_Mutation_p.A374D|KRT72_ENST00000354310.4_Missense_Mutation_p.A332D	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	374	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCGCTGTTCAGCGTCGGCGAT	0.627000													43	60					3.4345e-17	5.57296e-17	1	1	0
SPATA21	374955	broad.mit.edu	37	1	16735644	16735644	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:16735644G>A	ENST00000335496.1	-	7	1124	c.642C>T	c.(640-642)tcC>tcT	p.S214S	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.S191S	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	214							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GTTGCTCCTCGGACTTCTCCC	0.617000													15	79					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235694	3235694	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:3235694G>C	ENST00000217939.6	-	6	6182	c.6028C>G	c.(6028-6030)Ctt>Gtt	p.L2010V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2010	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGATGGAAAGGGTCCGGTTT	0.632000													8	22					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975738	44975738	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:44975738C>A	ENST00000340446.4	-	1	744	c.453G>T	c.(451-453)gtG>gtT	p.V151V		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	151						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GTTCCTTGTCCACTTTTTCTA	0.418000													25	100					7.92952e-12	1.14291e-11	1	1	0
OR2A5	393046	broad.mit.edu	37	7	143748140	143748140	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:143748140G>T	ENST00000408906.2	+	1	680	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCTGGTGCTGGTCTCCTACTC	0.612000													130	130					4.28411e-51	8.3482e-51	1	1	0
BPIFB3	359710	broad.mit.edu	37	20	31644491	31644491	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:31644491G>A	ENST00000375494.3	+	2	268	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	90	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										TGGCGTTGTCGAGGAGCTCTC	0.582000													10	96					0	0	1	0	0
LYZL2	119180	broad.mit.edu	37	10	30901767	30901767	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:30901767G>T	ENST00000375318.2	-	4	555	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	121					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TTCATTCCTTGTGTCTCTTTA	0.418000													22	17					2.32416e-17	3.79514e-17	1	1	0
DNAJC19	131118	broad.mit.edu	37	3	180703720	180703720	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:180703720C>T	ENST00000382564.2	-	5	444	c.274G>A	c.(274-276)Gac>Aac	p.D92N	DNAJC19_ENST00000491873.1_Missense_Mutation_p.D67N|DNAJC19_ENST00000486355.1_3'UTR|DNAJC19_ENST00000479269.1_Missense_Mutation_p.D67N	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	92	J.				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			TTACCTTTGTCAGGATGATTT	0.323000													4	36					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	132944861	132944861	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:132944861A>T	ENST00000368642.4	-	7	1182	c.1097T>A	c.(1096-1098)gTc>gAc	p.V366D		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	366	WW 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTTCTCCCAGACAGACAGGTG	0.547000													25	34					0	0	1	0	0
TIAF1	9220	broad.mit.edu	37	17	27400977	27400977	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:27400977G>A	ENST00000359450.6	-	1	4898	c.241C>T	c.(241-243)Cca>Tca	p.P81S	MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000527372.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.P81S	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	81					anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGTTGGAATGGGTTTACCTTA	0.537000													29	169					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96792092	96792092	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:96792092C>A	ENST00000359933.4	-	15	3224	c.2331G>T	c.(2329-2331)aaG>aaT	p.K777N		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	777										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAAGGATCTCCTTCTGAAGTG	0.383000													19	43					4.35082e-09	5.73295e-09	1	1	0
DPF3	8110	broad.mit.edu	37	14	73141018	73141018	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:73141018C>A	ENST00000541685.1	-	8	813	c.801G>T	c.(799-801)ggG>ggT	p.G267G	DPF3_ENST00000546183.1_Silent_p.G277G|DPF3_ENST00000556509.1_Silent_p.G267G|DPF3_ENST00000557704.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	267					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGTTGGAGCCCCCCAAGCAGA	0.537000													4	20					0.000602214	0.000644694	1	1	0
MED13L	23389	broad.mit.edu	37	12	116440865	116440865	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:116440865C>T	ENST00000281928.3	-	14	2718	c.2512G>A	c.(2512-2514)Ggg>Agg	p.G838R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	838					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTTCTGTCCCAACTGCAGGC	0.483000													17	35					0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61733224	61733224	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:61733224G>T	ENST00000325324.6	+	2	287	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.G80C	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	40	Importin N-terminal.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GACACAGCCAGGTTTCTATTC	0.383000													17	39					1.33834e-09	1.78722e-09	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108618565	108618565	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:108618565C>T	ENST00000332082.4	+	6	1550	c.732C>T	c.(730-732)tcC>tcT	p.S244S	WSCD2_ENST00000549903.1_Silent_p.S244S|WSCD2_ENST00000547525.1_Silent_p.S244S|WSCD2_ENST00000261400.3_Silent_p.S244S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	244	WSC 2.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACAACCTTTCCCTGGCCTTAC	0.547000													47	57					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:13769624C>G	ENST00000265104.4	-	57	9810	c.9706G>C	c.(9706-9708)Gat>Cat	p.D3236H	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3236	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome				53	51					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17743554	17743554	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:17743554G>T	ENST00000380060.3	+	6	1603	c.1265G>T	c.(1264-1266)gGa>gTa	p.G422V	NHS_ENST00000398097.3_Missense_Mutation_p.G266V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	422						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGGATATCCGGAACCAGGGAC	0.507000													41	83					2.35958e-20	4.00508e-20	1	1	0
DDX27	55661	broad.mit.edu	37	20	47852912	47852912	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:47852912C>T	ENST00000371764.4	+	14	1654	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	549	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACATTATGTCCACCGGGTGGG	0.532000													13	216					0	0	1	0	0
NAT14	57106	broad.mit.edu	37	19	55998060	55998060	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:55998060G>T	ENST00000205194.4	+	3	661	c.358G>T	c.(358-360)Ggg>Tgg	p.G120W	NAT14_ENST00000587400.1_Intron|NAT14_ENST00000592719.1_Intron	NM_020378.3	NP_065111.1	Q8WUY8	NAT14_HUMAN	N-acetyltransferase 14 (GCN5-related, putative)	120	N-acetyltransferase.				positive regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	integral to membrane|nucleus	DNA binding|N-acetyltransferase activity			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0527)		CACAAATGCAGGGGACGGGGC	0.776000													2	2					0.0784	0.0796974	1	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140755564	140755564	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:140755564C>A	ENST00000517434.1	+	1	1914	c.1914C>A	c.(1912-1914)ctC>ctA	p.L638L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACGCGCTCAAGCAGAGCC	0.697000													61	100					1.31171e-36	2.50311e-36	1	1	0
GKAP1	80318	broad.mit.edu	37	9	86399721	86399721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:86399721C>A	ENST00000376371.2	-	6	871	c.471G>T	c.(469-471)caG>caT	p.Q157H	GKAP1_ENST00000376365.3_Missense_Mutation_p.Q157H	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	157					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TAACTTTGGACTGAGTTGAAG	0.308000													18	5					3.99206e-14	6.09438e-14	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58386339	58386339	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:58386339T>C	ENST00000435989.2	-	3	653	c.419A>G	c.(418-420)aAt>aGt	p.N140S	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	140					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTGCTCATTCTGGTGCTG	0.483000													13	37					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100674890	100674890	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:100674890G>T	ENST00000306151.4	+	3	257	c.193G>T	c.(193-195)Gca>Tca	p.A65S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	65				A -> T (in Ref. 1; CAE54435/CAE54436).		extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A65T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGTTCTGCGGCAAACACCGC	0.418000													8	32					0.00307968	0.00323254	1	1	0
RYR2	6262	broad.mit.edu	37	1	237947190	237947190	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:237947190C>A	ENST00000366574.2	+	90	12495	c.12178C>A	c.(12178-12180)Cag>Aag	p.Q4060K	RYR2_ENST00000360064.6_Missense_Mutation_p.Q4066K|RYR2_ENST00000542537.1_Missense_Mutation_p.Q4044K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4060					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)			GCACTACACGCAGTCAGAAAC	0.483000													9	18					2.17888e-05	2.4591e-05	1	1	0
GPC5	2262	broad.mit.edu	37	13	92345609	92345609	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:92345609G>A	ENST00000377067.3	+	3	866	c.494G>A	c.(493-495)aGa>aAa	p.R165K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	165						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R165K(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTTGTAAACAGATTTTTTGAC	0.463000													32	77					0	0	1	0	0
ATP1B1	481	broad.mit.edu	37	1	169100698	169100698	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:169100698C>T	ENST00000367816.1	+	7	1346	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	ATP1B1_ENST00000499679.3_Missense_Mutation_p.R217C|ATP1B1_ENST00000367815.3_Missense_Mutation_p.R273C|ATP1B1_ENST00000367813.3_Missense_Mutation_p.R265C			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	273					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					CACTGAAATTCGCATAGAGTG	0.458000													16	92					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982935	92982935	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:92982935G>T	ENST00000523629.1	-	11	1944	c.1490C>A	c.(1489-1491)gCg>gAg	p.A497E	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A508E|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A470E|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A460E|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A497E|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A460E|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A460E|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A470E	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	497					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCCTCCGCCGCCTGCCGTTT	0.557000													47	92					1.00776e-21	1.74497e-21	1	1	0
SPN	6693	broad.mit.edu	37	16	29675594	29675594	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:29675594C>A	ENST00000360121.3	+	2	637	c.545C>A	c.(544-546)aCc>aAc	p.T182N	AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.T182N	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	182					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						TCCAAAGGCACCTCTGGACCC	0.597000													52	106					9.22156e-22	1.60537e-21	1	1	0
ANO5	203859	broad.mit.edu	37	11	22248885	22248885	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:22248885A>C	ENST00000324559.8	+	7	718	c.401A>C	c.(400-402)cAt>cCt	p.H134P		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	134						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCAAGATCCATGCCCCTTGG	0.408000													45	35					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242144351	242144351	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:242144351G>T	ENST00000274979.8	+	10	1226	c.1123G>T	c.(1123-1125)Gtg>Ttg	p.V375L	ANO7_ENST00000402430.3_Missense_Mutation_p.V374L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	375						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTGCTTCCTGGTGTTCTCAGA	0.637000													7	40					5.18039e-06	6.00963e-06	1	1	0
PPM1N	147699	broad.mit.edu	37	19	46005305	46005305	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:46005305C>A	ENST00000451287.2	+	5	1255	c.1255C>A	c.(1255-1257)Ccc>Acc	p.P419T	PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000396735.2_Missense_Mutation_p.P101T|PPM1N_ENST00000396736.2_Silent_p.T87T|PPM1N_ENST00000401705.1_Missense_Mutation_p.P101T|PPM1N_ENST00000456399.2_Silent_p.T80T|PPM1N_ENST00000396737.2_Missense_Mutation_p.P101T|PPM1N_ENST00000401593.1_Silent_p.T90T	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	419							magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						GAAGTCCAACCCCACGCATTT	0.507000													19	19					7.45023e-12	1.07624e-11	1	1	0
PNRC1	10957	broad.mit.edu	37	6	89790705	89790705	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:89790705C>T	ENST00000336032.3	+	1	209	c.92C>T	c.(91-93)gCc>gTc	p.A31V	PNRC1_ENST00000369472.1_Intron	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		TACTTTGGGGCCCTCCCGATG	0.677000										Multiple Myeloma(7;0.094)			43	52					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70465027	70465027	+	Silent	SNP	T	T	C	rs141874261		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:70465027T>C	ENST00000503640.1	-	2	856	c.801A>G	c.(799-801)ccA>ccG	p.P267P	UGT2A1_ENST00000512704.1_Silent_p.P267P|UGT2A1_ENST00000514019.1_Silent_p.P477P|UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Silent_p.P276P|UGT2A1_ENST00000286604.4_Silent_p.P311P	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	267					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAGGTAAGTATGGACGAGGAA	0.398000													6	19					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46727831	46727831	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:46727831C>T	ENST00000318962.4	-	6	716	c.633G>A	c.(631-633)caG>caA	p.Q211Q	ALS2CL_ENST00000415953.1_Silent_p.Q211Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	211					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCCAGAGAGCCTGTGTGGCCA	0.627000													14	27					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088296	94088296	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:94088296G>T	ENST00000553484.1	+	31	4937	c.4783G>T	c.(4783-4785)Gct>Tct	p.A1595S	UNC79_ENST00000256339.4_Missense_Mutation_p.A1396S|UNC79_ENST00000393151.2_Missense_Mutation_p.A1573S|UNC79_ENST00000555664.1_Missense_Mutation_p.A1573S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1573						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTTTCCAGATGCTCGAAGGCC	0.488000													38	97					2.20474e-14	3.39392e-14	1	1	0
CASP6	839	broad.mit.edu	37	4	110612012	110612012	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:110612012C>T	ENST00000265164.2	-	6	714	c.637G>A	c.(637-639)Gca>Aca	p.A213T	CASP6_ENST00000352981.3_Missense_Mutation_p.A124T|CASP6_ENST00000510324.1_5'UTR	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	213					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		ACACCTTCTGCAACAGAGTAA	0.453000													25	31					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	143352	143352	+	Silent	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:143352C>G	ENST00000283426.6	+	2	650	c.600C>G	c.(598-600)tcC>tcG	p.S200S		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	200					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGCTGCAGTCCGGGGTCGTCA	0.637000													27	118					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179540667	179540667	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:179540667C>A	ENST00000589042.1	-	148	34658	c.34434G>T	c.(34432-34434)gaG>gaT	p.E11478D	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10205D|TTN_ENST00000591111.1_Missense_Mutation_p.E11132D|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11157	Glu-rich.|Pro-rich.						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)			GGGGAGCCTCCTCTTTCTTGG	0.373000													5	4					3.59834e-05	4.00851e-05	1	1	0
DST	667	broad.mit.edu	37	6	56474119	56474119	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:56474119G>T	ENST00000370754.5	-	39	5207	c.5208C>A	c.(5206-5208)acC>acA	p.T1736T	DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Silent_p.T1232T|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Silent_p.T1558T|DST_ENST00000361203.3_Silent_p.T1558T|DST_ENST00000312431.6_Silent_p.T1558T			Q03001	DYST_HUMAN	dystonin	1558					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)			TCTGATCAATGGTGCCTGCAA	0.423000													10	118					0.000978159	0.00104111	1	1	0
ZNF496	84838	broad.mit.edu	37	1	247464298	247464298	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:247464298C>A	ENST00000294753.4	-	9	1751	c.1287G>T	c.(1285-1287)agG>agT	p.R429S	ZNF496_ENST00000366498.2_Missense_Mutation_p.R465S|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	429					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)			TCTCCTGCTCCCTGCGGCTCC	0.622000													38	141					1.49673e-21	2.58818e-21	1	1	0
GPR124	25960	broad.mit.edu	37	8	37692696	37692696	+	Missense_Mutation	SNP	C	C	G	rs147459946	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:37692696C>G	ENST00000412232.2	+	12	1626	c.1613C>G	c.(1612-1614)gCg>gGg	p.A538G	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	538					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCCAGAATGCGAGGAACGTG	0.607000													13	38					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702170	181702170	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:181702170G>T	ENST00000526775.1	+	19	3056	c.2891_splice	c.e19+1	p.R964_splice	CACNA1E_ENST00000357570.5_Splice_Site_p.R934_splice|CACNA1E_ENST00000367573.2_Splice_Site_p.R983_splice|CACNA1E_ENST00000367567.4_Splice_Site_p.R590_splice|CACNA1E_ENST00000358338.5_Splice_Site_p.R915_splice|CACNA1E_ENST00000360108.3_Splice_Site_p.R964_splice|CACNA1E_ENST00000367570.1_Splice_Site_p.R983_splice	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	983					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATTTAAGGAGGTGAGTGAGT	0.522000													12	33					1.08611e-07	1.34075e-07	1	1	0
CADM1	23705	broad.mit.edu	37	11	115085397	115085397	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:115085397C>A	ENST00000542447.2	-	7	1053	c.925G>T	c.(925-927)Ggt>Tgt	p.G309C	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.G309C|CADM1_ENST00000331581.6_Missense_Mutation_p.G309C|CADM1_ENST00000536727.1_Missense_Mutation_p.G309C|CADM1_ENST00000452722.2_Missense_Mutation_p.G309C	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	309	Ig-like C2-type 2.				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)		CGGTATGTACCATTATCTGTT	0.428000													15	75					2.23348e-06	2.60978e-06	1	1	0
JAK3	3718	broad.mit.edu	37	19	17954601	17954601	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:17954601A>C	ENST00000458235.1	-	3	392	c.293T>G	c.(292-294)cTg>cGg	p.L98R	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.L98R|JAK3_ENST00000527670.1_Missense_Mutation_p.L98R	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	98	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				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						CCTGTACAGCAGGACTTGGGT	0.597000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								24	39					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13883076	13883076	+	Silent	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:13883076G>C	ENST00000265104.4	-	20	3215	c.3111C>G	c.(3109-3111)gcC>gcG	p.A1037A	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1037	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCACTCCACGGCTTTGTTCA	0.532000									Kartagener syndrome				26	94					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922401	13922401	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:13922401C>G	ENST00000265104.4	-	5	579	c.475G>C	c.(475-477)Ggc>Cgc	p.G159R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	159	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGAGCAGGCCTCCATCTGCC	0.502000									Kartagener syndrome				34	42					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460304	142460304	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:142460304G>T	ENST00000486171.1	+	5	536	c.519G>T	c.(517-519)caG>caT	p.Q173H	PRSS1_ENST00000311737.7_Missense_Mutation_p.Q159H			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	159	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACGAGCTGCAGTGCCTGGATG	0.522000													62	322					7.62596e-35	1.44245e-34	1	1	0
FGA	2243	broad.mit.edu	37	4	155509953	155509953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:155509953G>T	ENST00000302053.3	-	3	434	c.356C>A	c.(355-357)tCa>tAa	p.S119*	FGA_ENST00000403106.3_Nonsense_Mutation_p.S119*	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	119					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACTATTGGCTGAGGAAAAATC	0.284000													12	27					0.000151284	0.00016595	1	1	0
HDX	139324	broad.mit.edu	37	X	83581279	83581279	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:83581279C>A	ENST00000297977.5	-	9	1965	c.1854G>T	c.(1852-1854)gaG>gaT	p.E618D	HDX_ENST00000506585.2_Missense_Mutation_p.E560D|HDX_ENST00000373177.2_Missense_Mutation_p.E618D	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	618						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GAATCTCGAGCTCATTTTCAA	0.328000													9	7					3.09899e-07	3.77854e-07	1	1	0
TUBAL3	79861	broad.mit.edu	37	10	5435550	5435550	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:5435550T>A	ENST00000380419.3	-	4	1308	c.1271A>T	c.(1270-1272)gAg>gTg	p.E424V	TUBAL3_ENST00000479328.1_Missense_Mutation_p.E384V	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	424					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CTCCAAGAACTCTGCTTCTTC	0.532000													43	26					0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830002	26830002	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr22:26830002G>T	ENST00000215906.5	+	2	859	c.421G>T	c.(421-423)Ggc>Tgc	p.G141C		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	141					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CTCCTGGTCCGGCATGGGCCG	0.657000													22	53					4.4004e-07	5.29526e-07	1	1	0
IHH	3549	broad.mit.edu	37	2	219920445	219920445	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:219920445G>T	ENST00000295731.5	-	3	719	c.720C>A	c.(718-720)ttC>ttA	p.F240L		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	240					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACATCGCTGAAGGTGGGGC	0.672000													15	76					0.000422831	0.000455303	1	1	0
PSG3	5671	broad.mit.edu	37	19	43234163	43234163	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:43234163C>A	ENST00000327495.5	-	4	939	c.755G>T	c.(754-756)aGg>aTg	p.R252M	PSG3_ENST00000595140.1_Missense_Mutation_p.R252M	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	252	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTTATTCTCCCTGGGGTTTAA	0.498000													76	65					3.71036e-49	7.21926e-49	1	1	0
OR10G3	26533	broad.mit.edu	37	14	22038360	22038360	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:22038360G>T	ENST00000303532.1	-	1	515	c.516C>A	c.(514-516)ccC>ccA	p.P172P		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CCACCTGATTGGGCCCACAGT	0.567000													14	141					6.72482e-11	9.41913e-11	1	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156696208	156696208	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:156696208A>T	ENST00000264424.8	+	3	248	c.166A>T	c.(166-168)Agc>Tgc	p.S56C	GUCY1B3_ENST00000513437.1_5'UTR|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.S56C|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.S56C|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.S36C|GUCY1B3_ENST00000507146.1_5'UTR|GUCY1B3_ENST00000505154.1_5'UTR	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	56					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TGCTGCTGCAAGCAAAGTCCT	0.398000													10	32					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3245027	3245027	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:3245027G>T	ENST00000520002.1	-	19	3329	c.2774C>A	c.(2773-2775)cCc>cAc	p.P925H	CSMD1_ENST00000400186.3_Missense_Mutation_p.P925H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P924H|CSMD1_ENST00000539096.1_Missense_Mutation_p.P924H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P925H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P925H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P924H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	925	Sushi 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCGCAGCTGGGCAAGGCGTG	0.577000													3	17					0.115264	0.116712	1	1	0
SORCS3	22986	broad.mit.edu	37	10	106976754	106976754	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:106976754G>T	ENST00000369701.3	+	19	2835	c.2608G>T	c.(2608-2610)Gca>Tca	p.A870S	SORCS3_ENST00000369699.4_Missense_Mutation_p.A156S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	870	PKD.					integral to membrane	neuropeptide receptor activity	p.A870T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGTGTCCTACGCAAACTTCAG	0.517000													20	42					7.45023e-12	1.07624e-11	1	1	0
MUC16	94025	broad.mit.edu	37	19	9056288	9056288	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:9056288G>T	ENST00000397910.4	-	3	31361	c.31158C>A	c.(31156-31158)agC>agA	p.S10386R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10388	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6019R(1)|p.S10386R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCTGGTTGGCTTGAAGTGT	0.488000													9	79					2.74318e-10	3.78066e-10	1	1	0
LRP1	4035	broad.mit.edu	37	12	57589710	57589710	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:57589710G>T	ENST00000243077.3	+	54	9091	c.8625G>T	c.(8623-8625)caG>caT	p.Q2875H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2875	LDL-receptor class A 19.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTCCCGCCAGTGGGAGTGTG	0.647000													47	56					3.77016e-25	6.78313e-25	1	1	0
ITGAV	3685	broad.mit.edu	37	2	187529295	187529295	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:187529295G>T	ENST00000261023.3	+	20	2274	c.2000G>T	c.(1999-2001)gGt>gTt	p.G667V	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.G621V|ITGAV_ENST00000374907.3_Missense_Mutation_p.G631V	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	667					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CAAGGAGAAGGTGCCTACGAA	0.423000													31	147					1.55811e-20	2.6622e-20	1	1	0
NCAN	1463	broad.mit.edu	37	19	19339188	19339188	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:19339188G>A	ENST00000252575.5	+	8	2802	c.2759G>A	c.(2758-2760)aGc>aAc	p.S920N	NCAN_ENST00000538881.1_Missense_Mutation_p.S371N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	920					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCGCATCAGAGCAGTCCCCTA	0.617000													86	65					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343419	248343419	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248343419C>A	ENST00000359682.2	+	1	132	c.132C>A	c.(130-132)gtC>gtA	p.V44V		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAAACTCTGTCATGGTTCTCC	0.527000													59	241					7.10663e-31	1.32288e-30	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803352	185803352	+	Missense_Mutation	SNP	C	C	A	rs141397832		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:185803352C>A	ENST00000302277.6	+	4	3823	c.3229C>A	c.(3229-3231)Cct>Act	p.P1077T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1077						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCTCCCACCCCCTAGCACACC	0.502000													21	183					1.50039e-11	2.14104e-11	1	1	0
ZNF639	51193	broad.mit.edu	37	3	179051382	179051382	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:179051382G>T	ENST00000326361.3	+	7	1075	c.630G>T	c.(628-630)gaG>gaT	p.E210D	ZNF639_ENST00000496856.1_Missense_Mutation_p.E210D|ZNF639_ENST00000484866.1_Missense_Mutation_p.E210D|ZNF639_ENST00000466663.1_3'UTR	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	210					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AACTTTGTGAGTTTAACAGCA	0.383000													29	54					3.65163e-15	5.74463e-15	1	1	0
TLL1	7092	broad.mit.edu	37	4	166981179	166981179	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:166981179G>T	ENST00000061240.2	+	15	2493		c.e15-1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTCTTCTAGCTGCTTGTGG	0.438000													14	23					6.31663e-08	7.92651e-08	1	1	0
VCAM1	7412	broad.mit.edu	37	1	101198091	101198091	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:101198091G>T	ENST00000294728.2	+	7	1744	c.1643G>T	c.(1642-1644)aGg>aTg	p.R548M	VCAM1_ENST00000347652.2_Missense_Mutation_p.R456M|VCAM1_ENST00000370115.1_Missense_Mutation_p.R349M|VCAM1_ENST00000370119.4_Missense_Mutation_p.R486M	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	548	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGTGGAGCAGGCAGCTCCCT	0.488000													19	56					6.94344e-10	9.40866e-10	1	1	0
ZBTB17	7709	broad.mit.edu	37	1	16270342	16270342	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:16270342G>A	ENST00000375733.2	-	10	1658	c.1420C>T	c.(1420-1422)Ctc>Ttc	p.L474F	ZBTB17_ENST00000448462.2_3'UTR|ZBTB17_ENST00000537142.1_Missense_Mutation_p.L392F|ZBTB17_ENST00000375743.4_Missense_Mutation_p.L474F			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	474					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|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;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCACTTGAGGGGCCCGTCA	0.697000													13	18					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	7866380	7866380	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:7866380C>T	ENST00000344293.5	+	2	472	c.266C>T	c.(265-267)cCt>cTt	p.P89L		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	89					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AACATTGAGCCTGTCACCTTC	0.428000													10	44					0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46654653	46654653	+	Splice_Site	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:46654653C>T	ENST00000371992.1	-	23	2636		c.e23-1		POMGNT1_ENST00000535522.1_Splice_Site|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_3'UTR|POMGNT1_ENST00000371986.3_Splice_Site	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)						protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TGAGCCAGGCCTGGAAAGTGA	0.493000													10	43					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76602280	76602280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:76602280G>T	ENST00000369981.3	+	28	3259	c.2980G>T	c.(2980-2982)Gag>Tag	p.E994*	MYO6_ENST00000369975.1_Nonsense_Mutation_p.E994*|MYO6_ENST00000369977.3_Nonsense_Mutation_p.E994*|MYO6_ENST00000369985.4_Nonsense_Mutation_p.E994*			Q9UM54	MYO6_HUMAN	myosin VI	994	Glu-rich.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCGACAGAAGGAGGAGGAATC	0.542000													56	128					4.6707e-30	8.66936e-30	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109794785	109794785	+	Missense_Mutation	SNP	C	C	T	rs117469174	by1000genomes	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:109794785C>T	ENST00000271332.3	+	1	2145	c.2084C>T	c.(2083-2085)aCg>aTg	p.T695M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	695	Cadherin 5.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGCAGGACACGGCACAGATT	0.572000													20	80					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87680376	87680376	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:87680376G>T	ENST00000320005.5	-	5	561	c.514C>A	c.(514-516)Cca>Aca	p.P172T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	172					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTTTTACTGGTGGTACAGCC	0.343000													26	38					4.47668e-21	7.69989e-21	1	1	0
ACAN	176	broad.mit.edu	37	15	89401396	89401396	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:89401396C>A	ENST00000439576.2	+	12	5954	c.5580C>A	c.(5578-5580)tcC>tcA	p.S1860S	ACAN_ENST00000561243.1_Silent_p.S1860S|ACAN_ENST00000352105.7_Silent_p.S1860S|ACAN_ENST00000559004.1_Silent_p.S1860S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1860					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCTCCCTTCCGGAGAGGCAG	0.498000													34	15					7.11191e-15	1.10534e-14	1	1	0
DSTYK	25778	broad.mit.edu	37	1	205138856	205138856	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:205138856G>A	ENST00000367162.3	-	3	789	c.759C>T	c.(757-759)caC>caT	p.H253H	DSTYK_ENST00000367161.3_Silent_p.H253H|DSTYK_ENST00000367160.4_Silent_p.H253H	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	253						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTTCATCTTTGTGGAGTGCAT	0.488000													22	67					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799067	45799067	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:45799067C>A	ENST00000553795.1	-	4	1112	c.804G>T	c.(802-804)atG>atT	p.M268I	OR13A1_ENST00000374401.2_Missense_Mutation_p.M268I|OR13A1_ENST00000536058.1_Missense_Mutation_p.M268I	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CGGTGTAATACATGCACACCA	0.567000													48	22					8.48111e-28	1.55628e-27	1	1	0
RYR2	6262	broad.mit.edu	37	1	237666754	237666754	+	Silent	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:237666754A>G	ENST00000366574.2	+	22	2879	c.2562A>G	c.(2560-2562)acA>acG	p.T854T	RYR2_ENST00000360064.6_Silent_p.T852T|RYR2_ENST00000542537.1_Silent_p.T838T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	854	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGGCCCCACAGTTTCCCTGA	0.502000													36	47					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	69117399	69117399	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:69117399C>T	ENST00000261778.1	+	18	3132	c.3120C>T	c.(3118-3120)gcC>gcT	p.A1040A	TANGO6_ENST00000561931.1_3'UTR	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TGCTGAGCGCCGTCCTCAAGG	0.587000													3	16					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744705	154744705	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:154744705C>A	ENST00000271915.3	-	3	1509	c.1194G>T	c.(1192-1194)cgG>cgT	p.R398R	KCNN3_ENST00000361147.4_Silent_p.R93R|KCNN3_ENST00000358505.2_Silent_p.R85R	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	403						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CGGCCTCCGCCCGGGAGGGTG	0.602000													98	45					1.61169e-53	3.15011e-53	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146829416	146829416	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:146829416G>C	ENST00000361727.3	+	8	1679	c.1163G>C	c.(1162-1164)gGa>gCa	p.G388A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	388					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAGGTGCCCGGACGGCTTAAC	0.473000										HNSCC(39;0.1)			22	83					0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40365424	40365424	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr22:40365424G>T	ENST00000344138.4	+	7	963	c.700G>T	c.(700-702)Gga>Tga	p.G234*	GRAP2_ENST00000544756.1_Nonsense_Mutation_p.G162*|GRAP2_ENST00000407075.3_Nonsense_Mutation_p.G234*|GRAP2_ENST00000543252.1_Nonsense_Mutation_p.G194*|GRAP2_ENST00000399090.2_Nonsense_Mutation_p.G121*|GRAP2_ENST00000540310.1_Nonsense_Mutation_p.G168*	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	234					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGAACGCCGAGGAGGCAGCCT	0.567000													22	74					1.10923e-09	1.49053e-09	1	1	0
CCDC136	64753	broad.mit.edu	37	7	128454719	128454719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:128454719G>T	ENST00000297788.4	+	15	3158	c.2791G>T	c.(2791-2793)Gag>Tag	p.E931*	CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	931						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CAAGCTGCGGGAGCTGCAGCT	0.587000													8	37					7.48243e-07	8.92083e-07	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32678999	32678999	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:32678999G>C	ENST00000421745.2	+	23	4876	c.4742G>C	c.(4741-4743)aGg>aCg	p.R1581T		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1581					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAATAGAAAGGGATGATGCA	0.328000													45	25					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39383358	39383358	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:39383358G>T	ENST00000545653.1	-	9	1170	c.640C>A	c.(640-642)Ctg>Atg	p.L214M	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Missense_Mutation_p.L235M|DAB2_ENST00000509337.1_Missense_Mutation_p.L214M	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	235					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TCCACTAACAGGATATCTTTG	0.353000													11	62					1.08611e-07	1.34075e-07	1	1	0
PCDH11Y	83259	broad.mit.edu	37	Y	5369219	5369219	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrY:5369219A>G	ENST00000215473.6	+	3	3251	c.3251A>G	c.(3250-3252)tAt>tGt	p.Y1084C				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1084					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCCCTTGGCTATCCTCAGGAG	0.552000													5	29					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20948106	20948106	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:20948106G>A	ENST00000261383.3	-	60	11723	c.11724C>T	c.(11722-11724)tcC>tcT	p.S3908S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3908					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTAGCTCCGAGGACATCAGGA	0.562000													7	20					0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25148949	25148949	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:25148949C>A	ENST00000549828.1	-	3	403	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W	C12orf77_ENST00000434912.3_Missense_Mutation_p.G12W|C12orf77_ENST00000549262.1_Missense_Mutation_p.G12W	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	67										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TGCACGTTCCCTTGTTTGCTC	0.458000													17	66					3.52763e-06	4.10708e-06	1	1	0
ZNF780B	163131	broad.mit.edu	37	19	40540414	40540414	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:40540414C>G	ENST00000434248.1	-	5	2417	c.2352G>C	c.(2350-2352)aaG>aaC	p.K784N	ZNF780B_ENST00000221355.6_Missense_Mutation_p.K636N	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCCCACACTCCTTACATTCAT	0.418000													7	30					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2418110	2418110	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:2418110C>A	ENST00000332578.3	+	12	2026	c.2026C>A	c.(2026-2028)Ctg>Atg	p.L676M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	676	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CGCAGGCTTCCTGGAAGGCAA	0.537000													60	46					9.74713e-16	1.5485e-15	1	1	0
MAPK4	5596	broad.mit.edu	37	18	48255741	48255741	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:48255741C>A	ENST00000400384.2	+	6	2317	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.S216S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	427					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ACGGGCGCTCCTGCGACTACA	0.652000													5	11					0.014758	0.0151938	1	1	0
PCDHA8	56140	broad.mit.edu	37	5	140221674	140221674	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:140221674C>G	ENST00000531613.1	+	1	768	c.768C>G	c.(766-768)gaC>gaG	p.D256E	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D256E	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACGCAGACAACGGAACAA	0.418000													13	39					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127354	146127354	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:146127354C>G	ENST00000237281.4	-	2	354	c.188G>C	c.(187-189)aGt>aCt	p.S63T		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	63							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TCCAAAGTCACTATTTAAGCA	0.413000													16	131					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41827128	41827128	+	Missense_Mutation	SNP	C	C	T	rs145324222	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:41827128C>T	ENST00000304330.4	-	6	663	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	RPAP1_ENST00000561603.1_Missense_Mutation_p.V183M	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	183						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCACAGGTCACGGCACCTGGA	0.552000													8	43					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65789115	65789115	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:65789115C>A	ENST00000312106.5	-	4	1681		c.e4-1			NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1						cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATGAAGAAGTCTGAGGGCACG	0.612000													14	22					9.31168e-06	1.07442e-05	1	1	0
SH3RF2	153769	broad.mit.edu	37	5	145379836	145379836	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:145379836C>T	ENST00000511217.1	+	2	646	c.594C>T	c.(592-594)ttC>ttT	p.F198F	SH3RF2_ENST00000359120.4_Silent_p.F198F			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	198	SH3 2.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTACAACTTCGACCTACGAG	0.592000													7	45					0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84163261	84163261	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:84163261C>A	ENST00000219439.4	-	5	962	c.786G>T	c.(784-786)ctG>ctT	p.L262L	HSDL1_ENST00000434463.3_Silent_p.L207L	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	262						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						AGCACCTGTGCAGAAAGTTGC	0.463000													16	64					1.99824e-07	2.45031e-07	1	1	0
ANKHD1	54882	broad.mit.edu	37	5	139917842	139917842	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:139917842C>G	ENST00000297183.6	+	32	7524	c.7400C>G	c.(7399-7401)tCt>tGt	p.S2467C	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2467C|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S791C|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S2467C	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGATTTTTCTAAAGTGAGT	0.393000													30	48					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81730186	81730186	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:81730186G>T	ENST00000537098.3	+	14	1624	c.1552G>T	c.(1552-1554)Gtg>Ttg	p.V518L	CMIP_ENST00000539778.2_Missense_Mutation_p.V424L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.V365L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	484						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CCTGCTGAGCGTGCGGGCCGG	0.622000													10	16					1.58986e-06	1.87299e-06	1	1	0
LRRC20	55222	broad.mit.edu	37	10	72061133	72061133	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:72061133C>A	ENST00000355790.4	-	5	1009	c.532G>T	c.(532-534)Ggc>Tgc	p.G178C	LRRC20_ENST00000395010.1_Missense_Mutation_p.G122C|LRRC20_ENST00000373224.1_Missense_Mutation_p.G178C|LRRC20_ENST00000395011.1_Missense_Mutation_p.G128C|LRRC20_ENST00000358141.2_Missense_Mutation_p.G128C	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	178										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GCTCTTGCGCCTTCCGGAGAC	0.647000													22	81					5.45024e-15	8.52219e-15	1	1	0
PCDHB13	56123	broad.mit.edu	37	5	140595123	140595123	+	Silent	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:140595123A>G	ENST00000341948.4	+	1	1615	c.1428A>G	c.(1426-1428)acA>acG	p.T476T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		476	Cadherin 5.				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)			TCAGCGCTACAGACAGAGACT	0.632000													60	140					0	0	1	0	0
CSRP1	1465	broad.mit.edu	37	1	201453892	201453892	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:201453892G>A	ENST00000367306.1	-	7	894	c.531C>T	c.(529-531)ccC>ccT	p.P177P	CSRP1_ENST00000533432.1_Silent_p.P177P|CSRP1_ENST00000526723.1_Silent_p.P144P|CSRP1_ENST00000340006.2_Silent_p.P177P|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000532460.1_Silent_p.P177P			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	177	Gly-rich.					nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						CAAAGCCCTTGGGCCCGAAGT	0.582000													10	13					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506767	155506767	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:155506767T>G	ENST00000302053.3	-	5	1892	c.1814A>C	c.(1813-1815)gAt>gCt	p.D605A	FGA_ENST00000403106.3_Missense_Mutation_p.D605A	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	605					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCCGGCCTCATCTGCCATTTT	0.463000													26	55					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49621019	49621019	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:49621019C>T	ENST00000371571.4	-	3	1384	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	367						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCGTGAGCCCCAGCGTCTGC	0.701000													14	27					0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75914184	75914184	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:75914184C>T	ENST00000296641.4	-	2	551	c.348G>A	c.(346-348)ctG>ctA	p.L116L	IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|F2RL2_ENST00000504899.1_Silent_p.L94L|IQGAP2_ENST00000502745.1_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	116					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AAAGCATCCACAGGGTCACAG	0.468000													7	27					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559998	210559998	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:210559998A>T	ENST00000360351.4	+	7	3610	c.3104A>T	c.(3103-3105)gAa>gTa	p.E1035V	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1031V|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1035					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAAAAGGTGGAACAAGGTCTG	0.428000													23	96					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937540	82937540	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:82937540G>T	ENST00000274341.4	-	5	1690	c.840C>A	c.(838-840)ctC>ctA	p.L280L		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	280	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CACCATCATTGAGACAAGCTT	0.512000													48	104					2.52991e-16	4.04911e-16	1	1	0
LIPF	8513	broad.mit.edu	37	10	90428333	90428333	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:90428333T>A	ENST00000394375.3	+	5	385	c.272T>A	c.(271-273)tTt>tAt	p.F91Y	LIPF_ENST00000238983.4_Missense_Mutation_p.F81Y|LIPF_ENST00000355843.2_Intron	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	81					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CCTGTTGTGTTTTTGCAGCAT	0.408000													18	32					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664205	124664205	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:124664205C>A	ENST00000325995.7	-	1	985	c.962G>T	c.(961-963)cGg>cTg	p.R321L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	321								p.R321Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CTTGTACAGCCGTGTCGGGAG	0.592000													62	121					1.03172e-35	1.96012e-35	1	1	0
CRYBA2	1412	broad.mit.edu	37	2	219855038	219855038	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:219855038T>A	ENST00000295728.2	-	4	766	c.530A>T	c.(529-531)tAc>tTc	p.Y177F	CRYBA2_ENST00000487181.1_5'UTR|CRYBA2_ENST00000392096.2_Missense_Mutation_p.Y177F	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	177	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCTCACCGTAAGTACAGAA	0.627000													12	76					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107703407	107703407	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:107703407T>A	ENST00000388781.3	-	23	3177	c.3094A>T	c.(3094-3096)Atg>Ttg	p.M1032L	LAMB4_ENST00000205386.4_Missense_Mutation_p.M1032L|LAMB4_ENST00000388780.3_Missense_Mutation_p.M1032L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1032	Laminin EGF-like 11.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGACACTCCATGGGACTCACG	0.527000													23	29					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820856	35820856	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:35820856C>A	ENST00000399989.1	+	2	822	c.543C>A	c.(541-543)ggC>ggA	p.G181G	MAGEB16_ENST00000399987.1_Silent_p.G181G|MAGEB16_ENST00000399992.1_Silent_p.G213G|MAGEB16_ENST00000399988.1_Silent_p.G181G|MAGEB16_ENST00000399985.1_Silent_p.G181G	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	181	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATTGCTATGGCCTCTTCATCA	0.522000													31	15					1.39806e-14	2.15729e-14	1	1	0
MYH13	8735	broad.mit.edu	37	17	10223780	10223780	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:10223780G>C	ENST00000418404.3	-	24	3308	c.3145C>G	c.(3145-3147)Cgg>Ggg	p.R1049G	MYH13_ENST00000570743.1_Missense_Mutation_p.R1049G|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1049G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1049					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGTCCGCCCGCAGTTTCTTC	0.478000													8	16					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30412073	30412073	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:30412073G>T	ENST00000375994.2	+	5	1163	c.890G>T	c.(889-891)gGg>gTg	p.G297V	MYLK2_ENST00000375985.4_Missense_Mutation_p.G297V			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	297	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGCAAGTTTGGGGCAGTCTGT	0.562000													13	26					4.36969e-10	5.99033e-10	1	1	0
RXRG	6258	broad.mit.edu	37	1	165398199	165398199	+	Silent	SNP	G	G	T	rs149766171	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:165398199G>T	ENST00000359842.5	-	2	356	c.54C>A	c.(52-54)tcC>tcA	p.S18S		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	18	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TGTGGCCAGGGGAGCCTGTAA	0.567000													4	23					3.59834e-05	4.00851e-05	1	1	0
TP53	7157	broad.mit.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:7576897G>A	ENST00000420246.2	-	9	1081	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTTTGGCTGGGGAGAGGAG	0.473000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			56	20					0	0	1	0	0
ZBTB24	9841	broad.mit.edu	37	6	109802713	109802713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:109802713C>A	ENST00000230122.3	-	2	684	c.517G>T	c.(517-519)Gag>Tag	p.E173*		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		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;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GATTTCTCCTCCTGCAATGTA	0.413000													15	112					0.000219431	0.000239684	1	1	0
HECW1	23072	broad.mit.edu	37	7	43590134	43590134	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:43590134C>A	ENST00000395891.1	+	27	4944	c.4339C>A	c.(4339-4341)Cgg>Agg	p.R1447R	HECW1_ENST00000453890.1_Silent_p.R1413R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1447	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGTGAAGTGGCGGGTGGAGCG	0.617000													9	20					1.12685e-05	1.29442e-05	1	1	0
COL4A4	1286	broad.mit.edu	37	2	227968697	227968697	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:227968697T>A	ENST00000396625.3	-	13	1014	c.807A>T	c.(805-807)aaA>aaT	p.K269N	COL4A4_ENST00000329662.7_Missense_Mutation_p.K269N	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	269	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTTTCTCCTTTATAGAGAC	0.398000													8	37					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36226022	36226022	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:36226022C>A	ENST00000251195.5	-	8	1596	c.1500G>T	c.(1498-1500)ctG>ctT	p.L500L	CLSPN_ENST00000520551.1_Silent_p.L500L|CLSPN_ENST00000373220.3_Silent_p.L500L|CLSPN_ENST00000318121.3_Silent_p.L500L			Q9HAW4	CLSPN_HUMAN	claspin	500					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATCTACTCCCAGTTGCTTAA	0.438000													25	81					2.21704e-12	3.24628e-12	1	1	0
PXDN	7837	broad.mit.edu	37	2	1652525	1652525	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:1652525C>A	ENST00000252804.4	-	17	3077	c.3027G>T	c.(3025-3027)tgG>tgT	p.W1009C		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1009					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGTCGCCGTCCCAGTGCGGGT	0.627000													11	23					6.40141e-05	7.08218e-05	1	1	0
BPIFB3	359710	broad.mit.edu	37	20	31644493	31644493	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:31644493G>A	ENST00000375494.3	+	2	270	c.270G>A	c.(268-270)gaG>gaA	p.E90E		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	90	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GCGTTGTCGAGGAGCTCTCTG	0.572000													9	94					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215853719	215853719	+	Splice_Site	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:215853719C>T	ENST00000366943.2	-	62	12453		c.e62-1		USH2A_ENST00000307340.3_Splice_Site			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						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)		GGCTTGTTCCCTGTAAGAAAA	0.408000										HNSCC(13;0.011)			16	71					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98887245	98887245	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:98887245A>C	ENST00000477737.1	+	22	3148	c.2944A>C	c.(2944-2946)Atg>Ctg	p.M982L	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	982										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAGCTGTCGATGCTGGAAAG	0.448000													15	126					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220399994	220399994	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:220399994G>T	ENST00000358078.4	+	6	1572	c.1558G>T	c.(1558-1560)Ggc>Tgc	p.G520C	ASIC4_ENST00000347842.3_Missense_Mutation_p.G501C			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	501						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CCCCAACAGGGGCTCAGCCCG	0.617000													10	37					3.86212e-05	4.28386e-05	1	1	0
MIR517C	574492	broad.mit.edu	37	19	54244621	54244621	+	RNA	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:54244621A>T	ENST00000385103.1	+	0	55					NR_030214.1																						GTCTAAGAAAAGATCGTGCAT	0.393000													28	18					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890335	139890335	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:139890335G>A	ENST00000303045.6	-	3	762	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R106W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	106	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCGAGACGCCGGGCAGCCGCC	0.716000										HNSCC(7;0.00092)			7	34					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152492824	152492824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:152492824C>A	ENST00000397345.3	-	64	9221	c.9019G>T	c.(9019-9021)Gaa>Taa	p.E3007*	NEB_ENST00000603639.1_Nonsense_Mutation_p.E3007*|NEB_ENST00000172853.10_Intron|NEB_ENST00000409198.1_Intron|NEB_ENST00000427231.2_Nonsense_Mutation_p.E3007*|NEB_ENST00000604864.1_Nonsense_Mutation_p.E3007*	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3007					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)		TTCTTTGCTTCTTCATTAGCA	0.433000													11	39					1.08611e-07	1.34075e-07	1	1	0
ABCC4	10257	broad.mit.edu	37	13	95858879	95858879	+	Silent	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:95858879C>G	ENST00000376887.4	-	8	1182	c.1068G>C	c.(1066-1068)acG>acC	p.T356T	ABCC4_ENST00000536256.1_Silent_p.T281T|ABCC4_ENST00000431522.1_Silent_p.T356T|ABCC4_ENST00000412704.1_Silent_p.T356T|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	356	ABC transmembrane type-1 1.		T -> M (in dbSNP:rs11568701).		platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CCCCATACAGCGTCACTGCCA	0.552000													57	141					0	0	1	0	0
EPHX4	253152	broad.mit.edu	37	1	92528676	92528676	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:92528676G>A	ENST00000370383.4	+	7	1020	c.922G>A	c.(922-924)Gca>Aca	p.A308T		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	308						integral to membrane	hydrolase activity	p.A308T(1)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						AGAGAATGACGCATTCATGGA	0.418000													25	63					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167051679	167051679	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:167051679G>A	ENST00000392766.2	-	10	963	c.623C>T	c.(622-624)aCa>aTa	p.T208I	ZBBX_ENST00000455345.2_Missense_Mutation_p.T208I|ZBBX_ENST00000307529.5_Missense_Mutation_p.T208I|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.T208I|ZBBX_ENST00000392764.1_Missense_Mutation_p.T179I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	208						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GGTTTCCTTTGTAGAATTATT	0.343000													3	21					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49419394	49419394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:49419394C>A	ENST00000274813.3	-	6	1244	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	373					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)	GCCATTGCTTCTATTGCAGTA	0.368000													35	26					8.4185e-14	1.27016e-13	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87965134	87965134	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:87965134G>T	ENST00000369577.3	+	8	1830	c.1787G>T	c.(1786-1788)aGt>aTt	p.S596I	ZNF292_ENST00000339907.4_Missense_Mutation_p.S591I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAACAATCTAGTAAAGAGAGA	0.358000													7	11					0.0293803	0.0300799	1	1	0
ESPNL	339768	broad.mit.edu	37	2	239038812	239038812	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:239038812G>T	ENST00000343063.3	+	9	1720	c.1457G>T	c.(1456-1458)aGg>aTg	p.R486M	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.R118M|ESPNL_ENST00000409169.1_Missense_Mutation_p.R442M	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	486										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		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)		GCGGCCTGGAGGTACTCACAG	0.632000													7	39					8.12818e-05	8.94655e-05	1	1	0
CPNE3	8895	broad.mit.edu	37	8	87568356	87568356	+	Silent	SNP	T	T	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:87568356T>G	ENST00000521271.1	+	16	1443	c.1281T>G	c.(1279-1281)acT>acG	p.T427T	CPNE3_ENST00000198765.4_Silent_p.T427T	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	427	VWFA.				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						TGATTATTACTGATGGTGTGA	0.428000													25	123					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85945181	85945181	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:85945181C>A	ENST00000268638.5	+	4	786	c.364C>A	c.(364-366)Cta>Ata	p.L122I		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	122					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGTAGGCAAACTAGGCGTGGC	0.498000													11	31					0.010729	0.0111168	1	1	0
PDE11A	50940	broad.mit.edu	37	2	178879078	178879078	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:178879078G>T	ENST00000286063.5	-	2	1339	c.1022C>A	c.(1021-1023)gCg>gAg	p.A341E	PDE11A_ENST00000358450.4_Missense_Mutation_p.A91E	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	341	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.A341V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTTATTTATCGCTTGGGCCAC	0.373000									Primary Pigmented Nodular Adrenocortical Disease, Familial				7	71					0.00198382	0.00208908	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44671894	44671894	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:44671894C>T	ENST00000454036.1	+	9	1314	c.1238C>T	c.(1237-1239)cCt>cTt	p.P413L	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.P390L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	413					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGGACCACCCTTATGTCTTC	0.567000													60	226					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761887	96761887	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:96761887G>T	ENST00000295266.4	+	1	649	c.586G>T	c.(586-588)Gct>Tct	p.A196S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	196					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TGGGGATGGCGCTGCGAATCA	0.478000													20	50					1.64113e-05	1.86361e-05	1	1	0
MOGAT3	346606	broad.mit.edu	37	7	100843520	100843520	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:100843520C>T	ENST00000223114.4	-	3	449	c.283G>A	c.(283-285)Gtc>Atc	p.V95I	MOGAT3_ENST00000440203.2_Missense_Mutation_p.V95I|MOGAT3_ENST00000379423.3_Missense_Mutation_p.V95I	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	95					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					ATCACCTTGACAGGATAATAA	0.562000													87	101					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21882347	21882347	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:21882347C>A	ENST00000328843.6	+	67	10929	c.10898C>A	c.(10897-10899)cCa>cAa	p.P3633Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.P3626Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3633	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTGAAAGGCCAGATTTGGAG	0.423000									Kartagener syndrome				8	4					0.00307968	0.00323254	1	1	0
SLC22A25	387601	broad.mit.edu	37	11	62984861	62984861	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:62984861G>C	ENST00000403374.2	-	5	560	c.257C>G	c.(256-258)gCt>gGt	p.A86G	SLC22A25_ENST00000306494.6_Missense_Mutation_p.A252G|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	252					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AATGACAAAAGCCAGGCTTCC	0.443000													19	15					0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15541737	15541737	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:15541737G>T	ENST00000428417.1	+	2	600	c.154G>T	c.(154-156)Gag>Tag	p.E52*	TMEM51_ENST00000376014.3_Nonsense_Mutation_p.E52*|TMEM51_ENST00000434578.2_Nonsense_Mutation_p.E52*|TMEM51_ENST00000376008.2_Nonsense_Mutation_p.E52*|TMEM51_ENST00000400796.3_Nonsense_Mutation_p.E52*	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	52						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CAACAAGACCGAGGTGGGTGG	0.617000													136	157					4.85366e-67	9.53002e-67	1	1	0
PPEF2	5470	broad.mit.edu	37	4	76793183	76793183	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:76793183C>A	ENST00000286719.7	-	13	2000	c.1644G>T	c.(1642-1644)agG>agT	p.R548S		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	548					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTGCCTTTGCCTCATGGTGA	0.403000													18	36					8.28177e-16	1.31732e-15	1	1	0
ZAN	7455	broad.mit.edu	37	7	100334226	100334226	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:100334226G>T	ENST00000542585.1	+	0	375				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGCTCCACCGGGGCCCCCGGG	0.647000													18	83					9.79885e-19	1.62475e-18	1	1	0
TRIML2	205860	broad.mit.edu	37	4	189012702	189012702	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:189012702T>A	ENST00000512729.1	-	7	1363	c.989A>T	c.(988-990)cAg>cTg	p.Q330L	TRIML2_ENST00000326754.3_Missense_Mutation_p.Q355L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	330	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GAATGATATCTGCCCGTGTTC	0.512000													53	104					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201196323	201196323	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:201196323C>A	ENST00000335211.4	+	23	11230	c.11100C>A	c.(11098-11100)acC>acA	p.T3700T	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCACTGCCACCCTCATTGTCA	0.642000													13	20					3.27435e-08	4.14516e-08	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126135302	126135302	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:126135302G>A	ENST00000299308.3	+	7	1710	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A80T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	568						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTACCAGCACGCCACAGTGCG	0.587000													20	72					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6956686	6956686	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:6956686C>T	ENST00000389658.3	-	56	8136	c.8043G>A	c.(8041-8043)ctG>ctA	p.L2681L	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2681					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATCGGGAGCCAGCTTAGGCC	0.537000													16	45					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596487	48596487	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:48596487G>T	ENST00000310248.2	-	1	683	c.589C>A	c.(589-591)Ctg>Atg	p.L197M		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						ATTGCCCACAGACTAAACTGA	0.532000													16	59					1.5739e-10	2.19021e-10	1	1	0
NES	10763	broad.mit.edu	37	1	156646985	156646985	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:156646985G>T	ENST00000368223.3	-	1	204	c.72C>A	c.(70-72)gcC>gcA	p.A24A		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	24	Coil 1A.|Rod.			A -> G (in Ref. 1; CAA46780).	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTTGACCCGGGCCAGGTAGG	0.677000													81	20					7.74691e-53	1.51188e-52	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141359072	141359072	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:141359072G>C	ENST00000389484.3	-	42	7907	c.6936C>G	c.(6934-6936)atC>atG	p.I2312M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2312					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)		CTGACATGGTGATGACAGCTT	0.443000										TSP Lung(27;0.18)			5	53					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733780	28733780	+	RNA	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:28733780C>T	ENST00000550043.1	+	0	185																											ACGGAGCGCCCGGGATGCAGG	0.617000													18	47					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128482635	128482635	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:128482635C>A	ENST00000322313.4	-	9	1164	c.1006_splice	c.e9+1	p.A336_splice		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	336					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGCCACTGACCTGTGGCTTCT	0.413000													18	34					1.02788e-11	1.4733e-11	1	1	0
ARHGAP11B	89839	broad.mit.edu	37	15	30919108	30919108	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:30919108C>G	ENST00000428041.2	+	1	230	c.85C>G	c.(85-87)Cag>Gag	p.Q29E		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	29					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.Q29*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TGTCCGTGGGCAGTGCGATCG	0.502000													10	28					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33233512	33233512	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:33233512G>A	ENST00000401073.2	+	2	430	c.360G>A	c.(358-360)gaG>gaA	p.E120E	KIAA1522_ENST00000373480.1_Silent_p.E61E|KIAA1522_ENST00000294521.3_Silent_p.E61E|KIAA1522_ENST00000373481.3_Silent_p.E72E	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	61										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACCTGGAAGAGCTGCACACTC	0.622000													41	123					0	0	1	0	0
GPR17	2840	broad.mit.edu	37	2	128408319	128408319	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:128408319C>A	ENST00000544369.1	+	4	705	c.94C>A	c.(94-96)Ctt>Att	p.L32I	GPR17_ENST00000272644.3_Missense_Mutation_p.L32I|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000393018.3_Missense_Mutation_p.L32I|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000545738.2_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	32						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		catgaatggccttgaagtggc	0.557000											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	122					5.35356e-11	7.52297e-11	1	1	0
RTP3	83597	broad.mit.edu	37	3	46539599	46539599	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:46539599T>C	ENST00000296142.3	+	1	619	c.47T>C	c.(46-48)aTg>aCg	p.M16T		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	16					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CAGGAGTTAATGCGGGAGGTG	0.592000													24	44					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058452	79058452	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:79058452G>T	ENST00000388820.4	-	19	4011	c.3801C>A	c.(3799-3801)gcC>gcA	p.A1267A		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1267					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTGGCTCCCAGGCCACTGTGC	0.657000													21	17					8.34094e-07	9.88953e-07	1	1	0
GAS7	8522	broad.mit.edu	37	17	9820593	9820593	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:9820593G>T	ENST00000396115.1	-	14	1513	c.1203C>A	c.(1201-1203)gtC>gtA	p.V401V	GAS7_ENST00000585266.1_Silent_p.V397V|GAS7_ENST00000432992.2_Silent_p.V461V|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Silent_p.V321V|GAS7_ENST00000437099.2_Silent_p.V397V|GAS7_ENST00000542249.1_Silent_p.V406V|GAS7_ENST00000579158.1_Silent_p.V413V|GAS7_ENST00000540214.1_Silent_p.V166V|GAS7_ENST00000323816.4_Silent_p.V397V	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	461					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTGCTCTCTGACCCACAGCT	0.607000			T	MLL	AML*								65	55					2.40885e-21	4.15986e-21	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126071729	126071729	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:126071729T>C	ENST00000318410.7	-	13	1926	c.1577A>G	c.(1576-1578)gAt>gGt	p.D526G	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D378G	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	526					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTTTCGAGTATCGGCAAGAAA	0.388000													14	68					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113662468	113662468	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:113662468C>A	ENST00000297405.5	-	19	3359	c.3115G>T	c.(3115-3117)Gga>Tga	p.G1039*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G1039*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G999*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G935*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1039	Sushi 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACCTGTATCCTGAATCACAA	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	103					2.27731e-05	2.56794e-05	1	1	0
NMNAT2	23057	broad.mit.edu	37	1	183259337	183259337	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:183259337C>T	ENST00000287713.6	-	4	581	c.247G>A	c.(247-249)Gac>Aac	p.D83N	NMNAT2_ENST00000294868.4_Missense_Mutation_p.D78N|NMNAT2_ENST00000473046.1_5'UTR	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	83					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TCCCAAGGGTCCACCCTAACA	0.517000													5	9					0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6060027	6060027	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:6060027C>A	ENST00000379959.3	-	7	956	c.783G>T	c.(781-783)tgG>tgT	p.W261C	IL2RA_ENST00000379954.1_Missense_Mutation_p.W189C|IL2RA_ENST00000256876.6_Missense_Mutation_p.W252C	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	261					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTCTCCGCTGCCAGGTGAGCC	0.612000													15	7					1.33834e-09	1.78722e-09	1	1	0
SLCO1A2	6579	broad.mit.edu	37	12	21459879	21459879	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:21459879A>T	ENST00000307378.6	-	6	1099	c.379T>A	c.(379-381)Tca>Aca	p.S127T	SLCO1A2_ENST00000458504.1_5'UTR|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S125T|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S127T	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	127					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						AAACTGTTTGAGGACAAGTTG	0.358000													19	55					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100334225	100334225	+	RNA	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:100334225G>A	ENST00000542585.1	+	0	374				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGGCTCCACCGGGGCCCCCGG	0.642000													18	82					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337932	102337932	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:102337932C>A	ENST00000395065.3	-	7	792	c.691_splice	c.e7+1	p.D231_splice	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Splice_Site_p.D142_splice	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	231						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAGCCATACCTGGGTAAAAT	0.502000													101	37					1.94648e-57	3.81605e-57	1	1	0
KCNA10	3744	broad.mit.edu	37	1	111060234	111060234	+	Silent	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:111060234T>A	ENST00000369771.2	-	1	1563	c.1176A>T	c.(1174-1176)gcA>gcT	p.A392A		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	392						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CAAAGTAGACTGCACTGGAGA	0.537000													19	69					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001599	177001599	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:177001599G>T	ENST00000367654.2	-	3	871	c.858C>A	c.(856-858)ctC>ctA	p.L286L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.L286L|ASTN1_ENST00000424564.2_Silent_p.L286L|ASTN1_ENST00000361833.2_Silent_p.L286L			O14525	ASTN1_HUMAN	astrotactin 1	286					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACCTGGTGTGAGGTCCATCC	0.592000													68	121					2.54232e-27	4.65851e-27	1	1	0
HTR7	3363	broad.mit.edu	37	10	92508800	92508800	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:92508800C>A	ENST00000371721.3	-	2	1333	c.1091G>T	c.(1090-1092)tGg>tTg	p.W364L	HTR7_ENST00000371719.2_Missense_Mutation_p.W364L|HTR7_ENST00000277874.6_Missense_Mutation_p.W364L|HTR7_ENST00000336152.3_Missense_Mutation_p.W364L			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	364					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CCTCTCCACCCACAGTGGGAT	0.532000													27	88					2.44723e-14	3.76273e-14	1	1	0
ZBTB7B	51043	broad.mit.edu	37	1	154988082	154988082	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:154988082G>T	ENST00000368426.3	+	3	1083	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.A350S|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.A316S|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.A316S	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	316					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGACCTGATGGCCTACCTAAG	0.652000													16	125					0.000308642	0.000332622	1	1	0
BEND4	389206	broad.mit.edu	37	4	42119639	42119639	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:42119639C>G	ENST00000502486.1	-	6	2080	c.1501G>C	c.(1501-1503)Ggg>Cgg	p.G501R	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	501										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AGGAAAGTCCCCACCGCCCGC	0.547000													4	16					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55708009	55708009	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:55708009C>A	ENST00000376350.3	-	10	2160	c.2138G>T	c.(2137-2139)gGg>gTg	p.G713V	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G535V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	713	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CACAGCCTCCCCACATGAAGA	0.607000													46	29					1.56793e-16	2.52512e-16	1	1	0
CEACAM20	125931	broad.mit.edu	37	19	45029200	45029200	+	RNA	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:45029200T>C	ENST00000454753.1	-	0	408							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ACATCCTCACTTTGGGTGGCA	0.557000													6	70					0	0	1	0	0
MLF1	4291	broad.mit.edu	37	3	158315869	158315869	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:158315869G>T	ENST00000359117.5	+	4	441	c.204_splice	c.e4-1	p.G69_splice	MLF1_ENST00000482628.1_Splice_Site_p.G69_splice|MLF1_ENST00000355893.5_Splice_Site_p.G94_splice|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000484955.1_Splice_Site_p.G69_splice|MLF1_ENST00000478894.2_Splice_Site_p.G84_splice|MLF1_ENST00000392822.3_Splice_Site_p.G125_splice|MLF1_ENST00000471745.1_Splice_Site_p.G84_splice|MLF1_ENST00000469452.1_Intron	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	94	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TTACCTGTAGGGTCAACTTTC	0.358000			T	NPM1	AML								11	28					1.5842e-08	2.04362e-08	1	1	0
FUCA2	2519	broad.mit.edu	37	6	143823664	143823664	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:143823664C>A	ENST00000002165.5	-	4	846	c.791G>T	c.(790-792)gGa>gTa	p.G264V	FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591892.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	264					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GCTACCAGCTCCCCAACGATC	0.393000													35	44					4.65686e-17	7.53746e-17	1	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128842742	128842742	+	Missense_Mutation	SNP	C	C	A	rs139276969	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:128842742C>A	ENST00000310343.9	-	21	3616	c.3617G>T	c.(3616-3618)cGt>cTt	p.R1206L	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R857L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R857L|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1206					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACTGTAGAAACGGGGTGGAGA	0.463000													54	19					1.83081e-24	3.25309e-24	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6956685	6956685	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:6956685C>A	ENST00000389658.3	-	56	8137	c.8044G>T	c.(8044-8046)Gct>Tct	p.A2682S	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2682					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCATCGGGAGCCAGCTTAGGC	0.542000													16	45					9.16793e-09	1.19461e-08	1	1	0
ADAM7	8756	broad.mit.edu	37	8	24349579	24349579	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:24349579G>C	ENST00000175238.6	+	14	1603	c.1520G>C	c.(1519-1521)cGt>cCt	p.R507P	RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.R507P|ADAM7_ENST00000520720.1_Missense_Mutation_p.R279P	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	507	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGTCCAACTCGTGAGGATCAG	0.468000													17	52					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7591411	7591411	+	Silent	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:7591411C>G	ENST00000264079.6	+	3	449	c.324C>G	c.(322-324)ggC>ggG	p.G108G		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	108					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTGCTGGGCTACTCGGACG	0.612000													94	59					0	0	1	0	0
RPA1	6117	broad.mit.edu	37	17	1798347	1798347	+	Silent	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:1798347A>G	ENST00000254719.5	+	16	1814	c.1704A>G	c.(1702-1704)cgA>cgG	p.R568R		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	568					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CCAACTTCCGATCTTTCATAT	0.453000								Nucleotide excision repair (NER)					55	61					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114448944	114448944	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:114448944C>A	ENST00000297405.5	-	1	384	c.140G>T	c.(139-141)tGg>tTg	p.W47L	CSMD3_ENST00000352409.3_Missense_Mutation_p.W47L|CSMD3_ENST00000455883.2_Missense_Mutation_p.W47L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	47						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GACGAGGTTCCAAAACGTAAA	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			57	186					3.07002e-29	5.67381e-29	1	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140751984	140751984	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:140751984C>A	ENST00000576222.1	+	1	2154	c.2023C>A	c.(2023-2025)Ctt>Att	p.L675I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCTGACCTTAGCGACCG	0.567000													26	95					4.7796e-09	6.27871e-09	1	1	0
GRM5	2915	broad.mit.edu	37	11	88583079	88583079	+	Silent	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:88583079C>G	ENST00000418177.2	-	3	1273	c.906G>C	c.(904-906)ctG>ctC	p.L302L	GRM5_ENST00000393297.1_Silent_p.L302L|GRM5_ENST00000305447.4_Silent_p.L302L|GRM5_ENST00000455756.2_Silent_p.L302L|GRM5_ENST00000305432.5_Silent_p.L302L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	302					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCACCTGCCCAGAAGCAGAA	0.483000													29	114					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96438932	96438932	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:96438932C>T	ENST00000359246.4	+	21	3256	c.2889C>T	c.(2887-2889)acC>acT	p.T963T	PHF2_ENST00000375376.4_Silent_p.T194T	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	963	Ser/Thr-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CTCCTAAcaccacctcccctt	0.597000													8	15					0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72700893	72700893	+	Silent	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:72700893A>G	ENST00000469092.1	-	3	391	c.115T>C	c.(115-117)Ttg>Ctg	p.L39L	RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Silent_p.L39L|CD300LF_ENST00000343125.4_Silent_p.L39L|CD300LF_ENST00000361254.4_Silent_p.L39L|CD300LF_ENST00000301573.9_Silent_p.L36L|CD300LF_ENST00000583937.1_Silent_p.L36L|CD300LF_ENST00000581500.1_Silent_p.L39L|CD300LF_ENST00000326165.6_Silent_p.L36L|RAB37_ENST00000402449.4_Intron			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	36	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCACGGTCAAGGAGCCCCGC	0.512000													23	97					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70225887	70225887	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:70225887G>C	ENST00000310961.5	+	4	433	c.15G>C	c.(13-15)gaG>gaC	p.E5D	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.E38D|LRRC7_ENST00000035383.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	0						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTGCCTGGAGATGACCACCA	0.433000													14	24					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73501457	73501457	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:73501457G>C	ENST00000224721.6	+	37	4644	c.4639G>C	c.(4639-4641)Ggt>Cgt	p.G1547R		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1542	Cadherin 15.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCAGAACGTGGGTGGAGGTAC	0.587000													7	20					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558720	113558720	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:113558720T>A	ENST00000284601.3	-	1	400	c.332A>T	c.(331-333)gAc>gTc	p.D111V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	111					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGAAGGCAAGTCAAACAGTGG	0.403000													12	35					0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58075663	58075663	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:58075663C>T	ENST00000219271.3	+	6	1838	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	351					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CAAAGCCGGGCCCCCCAGTCC	0.726000													5	10					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52779119	52779119	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:52779119C>A	ENST00000257951.3	-	1	317	c.251G>T	c.(250-252)gGg>gTg	p.G84V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	84	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AAAACCCATCCCACAGCCAGC	0.582000													33	124					2.81731e-10	3.87869e-10	1	1	0
TTN	7273	broad.mit.edu	37	2	179659708	179659708	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:179659708C>A	ENST00000589042.1	-	7	1410	c.1186G>T	c.(1186-1188)Gcc>Tcc	p.A396S	TTN_ENST00000342175.6_Missense_Mutation_p.A396S|TTN_ENST00000460472.2_Missense_Mutation_p.A396S|TTN_ENST00000360870.5_Missense_Mutation_p.A396S|TTN_ENST00000342992.6_Missense_Mutation_p.A396S|TTN_ENST00000591111.1_Missense_Mutation_p.A396S|TTN_ENST00000359218.5_Missense_Mutation_p.A396S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	396	Ala-rich.						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)			GACACACTGGCGGCAGCACCC	0.522000													16	119					2.32078e-09	3.08005e-09	1	1	0
ADAM11	4185	broad.mit.edu	37	17	42849175	42849175	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:42849175G>T	ENST00000200557.6	+	6	688	c.519G>T	c.(517-519)gtG>gtT	p.V173V	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	173					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCCAAGAGGTGGCTGGACCTT	0.627000													19	98					6.33239e-15	9.85377e-15	1	1	0
IGHD	3495	broad.mit.edu	37	14	106311905	106311905	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:106311905G>T	ENST00000390556.2	-	0	105																											AGTCACGGACGTTGGGTGGTA	0.552000													45	56					8.01111e-26	1.44536e-25	1	1	0
GPR15	2838	broad.mit.edu	37	3	98251066	98251066	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:98251066C>A	ENST00000284311.3	+	1	324	c.189C>A	c.(187-189)ggC>ggA	p.G63G		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	63						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TCAAACCCGGCAGCCGAAGAC	0.478000													14	55					2.62699e-14	4.0343e-14	1	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28212707	28212707	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:28212707A>C	ENST00000284984.2	-	5	2007	c.1553T>G	c.(1552-1554)gTg>gGg	p.V518G		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	518	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ACACACCAGCACCCCACCAGA	0.557000													15	17					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153215717	153215717	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:153215717G>A	ENST00000310441.7	-	24	6947	c.5981C>T	c.(5980-5982)gCc>gTc	p.A1994V	HCFC1_ENST00000369984.4_Missense_Mutation_p.A2039V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1925V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1994					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTTGTGTGGCCGGGCCATA	0.622000													12	77					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772656	27772656	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:27772656G>T	ENST00000333743.6	+	8	1197	c.943G>T	c.(943-945)Gcc>Tcc	p.A315S	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	315					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CTACGTGACCGCCATGGACCT	0.567000													11	39					4.68919e-08	5.92464e-08	1	1	0
ADRA2C	152	broad.mit.edu	37	4	3769577	3769577	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:3769577C>T	ENST00000330055.5	+	1	1453	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	415					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TGCCAGGTGCCCGGCCCGCTC	0.582000													11	45					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52308318	52308318	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:52308318C>A	ENST00000550683.1	+	5	864	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	ACVRL1_ENST00000388922.4_Silent_p.R241R|ACVRL1_ENST00000419526.2_Silent_p.R67R	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	241	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GTCCTGGTTCCGGGAGACTGA	0.587000													15	38					1.49906e-05	1.70378e-05	1	1	0
TBXAS1	6916	broad.mit.edu	37	7	139657446	139657446	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:139657446C>A	ENST00000263552.6	+	12	1243	c.705C>A	c.(703-705)tcC>tcA	p.S235S	TBXAS1_ENST00000411653.1_Silent_p.S234S|TBXAS1_ENST00000436047.2_Silent_p.S235S|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Silent_p.S235S|TBXAS1_ENST00000448866.1_Silent_p.S234S|TBXAS1_ENST00000336425.5_Silent_p.S234S|TBXAS1_ENST00000416849.2_Silent_p.S281S|TBXAS1_ENST00000458722.1_Silent_p.S280S|TBXAS1_ENST00000425687.1_Silent_p.S167S	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	234					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CATTTCCATCCATAATGGTCC	0.458000													19	76					4.96729e-08	6.25762e-08	1	1	0
WDR52	55779	broad.mit.edu	37	3	113119439	113119439	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:113119439A>T	ENST00000393845.2	-	12	1493	c.1427T>A	c.(1426-1428)gTg>gAg	p.V476E	WDR52_ENST00000295868.2_Missense_Mutation_p.V476E	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	476										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGAAACAGCCACGGCTTCAAT	0.423000													11	16					0	0	1	0	0
SAP30BP	29115	broad.mit.edu	37	17	73663476	73663476	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:73663476G>T	ENST00000584667.1	+	1	281	c.24G>T	c.(22-24)ctG>ctT	p.L8L	SAP30BP_ENST00000355423.3_Silent_p.L8L|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	8					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAATGTTCTGTCGTCTCTCG	0.597000													18	90					2.94398e-08	3.75271e-08	1	1	0
ZAN	7455	broad.mit.edu	37	7	100334227	100334227	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:100334227G>T	ENST00000542585.1	+	0	376				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTCCACCGGGGCCCCCGGGG	0.647000													19	81					9.79885e-19	1.62475e-18	1	1	0
SERPINA6	866	broad.mit.edu	37	14	94770841	94770841	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:94770841G>T	ENST00000341584.3	-	5	1278	c.1132C>A	c.(1132-1134)Cgt>Agt	p.R378S		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	378					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGGTTGAAACGCAAGATGATA	0.542000													30	47					8.4185e-14	1.27016e-13	1	1	0
RUNDC3B	154661	broad.mit.edu	37	7	87323266	87323266	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:87323266C>A	ENST00000338056.3	+	3	692	c.281C>A	c.(280-282)cCt>cAt	p.P94H	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Intron|RUNDC3B_ENST00000493037.1_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	94	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CTCCAAATACCTCTTCAAGGT	0.433000													14	47					3.45872e-05	3.87641e-05	1	1	0
LCT	3938	broad.mit.edu	37	2	136575099	136575099	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:136575099G>T	ENST00000264162.2	-	6	1529	c.1519C>A	c.(1519-1521)Cat>Aat	p.H507N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	507	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATCCACCATGATCCTGCAGG	0.582000													25	98					1.85244e-09	2.4712e-09	1	1	0
ATG9B	285973	broad.mit.edu	37	7	150720163	150720163	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:150720163C>A	ENST00000605938.1	-	4	865	c.790G>T	c.(790-792)Gcc>Tcc	p.A264S	ATG9B_ENST00000605952.1_Missense_Mutation_p.A264S|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Start_Codon_SNP_p.M1I|ATG9B_ENST00000377974.2_Missense_Mutation_p.A264S	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	264					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTAGGATGGCATCTGACAGG	0.567000													46	162					2.46787e-29	4.56751e-29	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168102105	168102105	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:168102105A>C	ENST00000409195.1	+	9	4292	c.4203A>C	c.(4201-4203)gaA>gaC	p.E1401D	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1179D|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1401D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1226					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATTTCTGAAGAATCACATA	0.338000													6	39					0	0	1	0	0
TSACC	128229	broad.mit.edu	37	1	156314422	156314422	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:156314422C>T	ENST00000368255.3	+	3	446	c.86C>T	c.(85-87)tCc>tTc	p.S29F	TSACC_ENST00000368253.1_Missense_Mutation_p.S29F|TSACC_ENST00000481479.1_3'UTR|TSACC_ENST00000368254.1_Missense_Mutation_p.S29F|TSACC_ENST00000368251.1_Missense_Mutation_p.S29F|TSACC_ENST00000368252.1_Missense_Mutation_p.S29F	NM_144627.3	NP_653228.1			TSSK6 activating co-chaperone																		GCAAAACCCTCCCCCAGCTAT	0.473000													32	197					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540023	133540023	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:133540023G>T	ENST00000409261.1	-	14	4734	c.4361C>A	c.(4360-4362)gCc>gAc	p.A1454D	NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1454D|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1454							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGTTGCAGAGGCATCTGGATG	0.517000													8	59					0.000274275	0.000296825	1	1	0
SLFN12L	100506736	broad.mit.edu	37	17	33807058	33807058	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:33807058C>A	ENST00000260908.7	-	2	288	c.171G>T	c.(169-171)caG>caT	p.Q57H	SLFN12L_ENST00000449046.1_Missense_Mutation_p.Q88H|SLFN12L_ENST00000361112.4_Missense_Mutation_p.Q86H	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	89						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTTCATTCTGCTGTTTTCTCA	0.393000													14	48					4.3838e-07	5.28514e-07	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139729068	139729068	+	Splice_Site	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:139729068C>G	ENST00000303045.6	-	28	2846	c.2400_splice	c.e28+1	p.K800_splice	COL22A1_ENST00000435777.1_Splice_Site_p.K800_splice|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	800	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACAAACAGACCTTCTCTCCAG	0.373000										HNSCC(7;0.00092)			36	57					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52361753	52361753	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:52361753G>T	ENST00000296585.5	+	15	2032	c.1889G>T	c.(1888-1890)gGg>gTg	p.G630V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	630					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GATTTAAATGGGGATTCCATC	0.453000													17	41					3.32936e-07	4.04414e-07	1	1	0
OSBPL6	114880	broad.mit.edu	37	2	179255854	179255854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:179255854G>T	ENST00000190611.4	+	22	2732	c.2356G>T	c.(2356-2358)Gag>Tag	p.E786*	OSBPL6_ENST00000315022.2_Nonsense_Mutation_p.E790*|OSBPL6_ENST00000409631.1_Nonsense_Mutation_p.E750*|OSBPL6_ENST00000392505.2_Nonsense_Mutation_p.E811*|OSBPL6_ENST00000409045.3_Nonsense_Mutation_p.E755*|OSBPL6_ENST00000359685.3_Nonsense_Mutation_p.E750*	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	786					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GATAGATCAGGAGGGGAAGGC	0.483000													20	113					8.04996e-18	1.32118e-17	1	1	0
TRBV5-1	28614	broad.mit.edu	37	7	142021277	142021277	+	RNA	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:142021277G>A	ENST00000390381.3	+	0	566																											TTCTCAGGGCGCCAGTTCTCT	0.527000													18	37					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107682	45107682	+	Missense_Mutation	SNP	G	G	T	rs139787661		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:45107682G>T	ENST00000340648.4	+	13	1544	c.1427G>T	c.(1426-1428)cGg>cTg	p.R476L		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	476					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AAACGGCCACGGAAGAAGAGC	0.617000													15	89					5.01169e-05	5.5542e-05	1	1	0
ARSG	22901	broad.mit.edu	37	17	66364843	66364843	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:66364843G>T	ENST00000448504.2	+	7	1655	c.859G>T	c.(859-861)Gtt>Ttt	p.V287F	ARSG_ENST00000452479.2_Missense_Mutation_p.V123F|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	287					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAGGACAAAGTTGACCACAC	0.502000													22	162					7.87624e-14	1.19534e-13	1	1	0
SKIV2L	6499	broad.mit.edu	37	6	31927793	31927793	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:31927793C>T	ENST00000375394.2	+	3	246	c.133C>T	c.(133-135)Cat>Tat	p.H45Y	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	45						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCAGCTTCCCCATGGCCTCCC	0.507000													12	79					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607000													5	33					1	1	1	1	0
SLC25A24	29957	broad.mit.edu	37	1	108686309	108686309	+	Silent	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:108686309T>C	ENST00000565488.1	-	8	1173	c.954A>G	c.(952-954)gtA>gtG	p.V318V	SLC25A24_ENST00000370041.4_Silent_p.V299V	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	318					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CAGTTTTGCCTACAGCCAGCC	0.338000													27	32					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15641387	15641387	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:15641387A>T	ENST00000437605.2	+	6	525	c.275A>T	c.(274-276)aAg>aTg	p.K92M	ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.K92M	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	92						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		AGGAGCACCAAGAAGGTAACA	0.527000													97	29					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99470221	99470221	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:99470221G>A	ENST00000370188.3	-	1	367	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	LPPR5_ENST00000263177.4_Silent_p.L3L|RP5-896L10.1_ENST00000425113.1_RNA	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		3						integral to membrane	hydrolase activity										GCGGGCAGCAGGGGCATGCAC	0.711000													24	97					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238737969	238737969	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:238737969C>T	ENST00000316997.4	+	13	2845	c.2713C>T	c.(2713-2715)Ctt>Ttt	p.L905F	RBM44_ENST00000409864.1_Missense_Mutation_p.L905F	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	904							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTTAAAATTCTTGGAGAATA	0.338000													12	26					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22272228	22272228	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:22272228C>A	ENST00000594947.1	+	4	1820	c.1676C>A	c.(1675-1677)aCt>aAt	p.T559N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	559					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)				TCAAACCTTACTAAACATAAT	0.353000													8	6					0.000274275	0.000296825	1	1	0
EPHA6	285220	broad.mit.edu	37	3	96963164	96963164	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:96963164C>A	ENST00000470610.2	+	5	1682	c.1639C>A	c.(1639-1641)Cca>Aca	p.P547T	EPHA6_ENST00000389672.5_Intron			Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAAAACAGACCCATAATTTCT	0.413000													8	29					0.0381472	0.0389011	1	1	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212041	90212041	+	RNA	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:90212041G>A	ENST00000390277.2	+	0	230																											CTCCTGCAGGGCCAGTCAGGG	0.537000													28	63					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120446786	120446786	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:120446786A>T	ENST00000354960.3	-	12	2016	c.1697T>A	c.(1696-1698)cTg>cAg	p.L566Q	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.L524Q|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000394439.1_Missense_Mutation_p.L514Q	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	566					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	CAGATCAGACAGCTCAAAGTC	0.428000													14	30					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76757009	76757009	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:76757009A>T	ENST00000536229.3	+	3	3684	c.2975A>T	c.(2974-2976)cAg>cTg	p.Q992L	SALL3_ENST00000537592.2_Missense_Mutation_p.Q1197L|SALL3_ENST00000575389.2_Missense_Mutation_p.Q1125L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1197					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)		GAAATGTTCCAGAAGGACCTG	0.577000													9	68					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56247368	56247368	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:56247368C>A	ENST00000361673.3	-	4	853	c.640G>T	c.(640-642)Ggg>Tgg	p.G214W		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	214							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AAAAGCAACCCATTTGCAATT	0.398000													33	72					4.40665e-25	7.91723e-25	1	1	0
LRRC36	55282	broad.mit.edu	37	16	67410734	67410734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:67410734C>A	ENST00000329956.6	+	11	1784	c.1765C>A	c.(1765-1767)Ctt>Att	p.L589I	LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000563189.1_Missense_Mutation_p.L468I|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	589										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)		CAGGAGGGAGCTTGAACTGAA	0.522000													25	58					2.27525e-19	3.80684e-19	1	1	0
RYR2	6262	broad.mit.edu	37	1	237580424	237580424	+	Splice_Site	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:237580424G>C	ENST00000366574.2	+	11	1165		c.e11+1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						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.?(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)			TAAGAGTTGCGTAAGTAGAAC	0.448000													4	18					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47977526	47977526	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:47977526G>A	ENST00000318711.7	+	31	3844	c.3661G>A	c.(3661-3663)Gtg>Atg	p.V1221M	DIP2A_ENST00000417564.2_Missense_Mutation_p.V1220M|DIP2A_ENST00000400274.1_Missense_Mutation_p.V1216M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1220					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ATCAGTGCTGGTGCCCCCGCT	0.642000													5	30					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124559	142124559	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:142124559G>T	ENST00000390376.2	-	0	6																											AGGAGCCCGAGGCTCATGGCA	0.597000													25	130					7.88262e-20	1.32576e-19	1	1	0
MED12L	116931	broad.mit.edu	37	3	151083769	151083769	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:151083769G>T	ENST00000474524.1	+	21	3250	c.3212G>T	c.(3211-3213)tGc>tTc	p.C1071F	MED12L_ENST00000273432.4_Missense_Mutation_p.C931F|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1071					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATGTACTTTGCACTGTAGAT	0.353000													35	51					1.836e-18	3.0287e-18	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29639282	29639282	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:29639282C>A	ENST00000318184.5	-	8	892		c.e8-1		OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CGATCCAAACCTGTAAAAGGT	0.373000													19	31					5.35267e-07	6.4232e-07	1	1	0
WWOX	51741	broad.mit.edu	37	16	79245641	79245641	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:79245641G>T	ENST00000566780.1	+	9	1559	c.1193G>T	c.(1192-1194)tGg>tTg	p.W398L	WWOX_ENST00000539474.2_Missense_Mutation_p.G208W|WWOX_ENST00000402655.2_Silent_p.V182V|WWOX_ENST00000406884.2_Missense_Mutation_p.W218L	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	398	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CGGACCCTGTGGGCGCTCAGC	0.632000													30	55					3.1745e-13	4.70161e-13	1	1	0
MYH4	4622	broad.mit.edu	37	17	10366945	10366945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:10366945G>A	ENST00000255381.2	-	8	774	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	222	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGATGATTTGATCTTCAAGG	0.433000													47	23					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105795193	105795193	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:105795193G>T	ENST00000393127.2	+	12	1991	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N	GRIA4_ENST00000282499.5_Missense_Mutation_p.K515N|GRIA4_ENST00000530497.1_Missense_Mutation_p.K515N|GRIA4_ENST00000525187.1_Missense_Mutation_p.K515N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	515					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACTTTTCTAAGCCCTTCATGA	0.418000													74	24					7.07328e-35	1.33987e-34	1	1	0
SPECC1L	23384	broad.mit.edu	37	22	24718718	24718718	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr22:24718718G>A	ENST00000314328.9	+	5	2055	c.1770G>A	c.(1768-1770)gtG>gtA	p.V590V	SPECC1L_ENST00000416735.1_Intron|KB-1896H10.1_ENST00000358654.2_Silent_p.V590V|SPECC1L_ENST00000541492.1_Silent_p.V590V|SPECC1L_ENST00000437398.1_Silent_p.V590V	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	590					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGCAGAAAGTGGCAGAGCTGT	0.478000													16	36					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134255997	134255997	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:134255997G>T	ENST00000337090.3	+	6	615	c.441_splice	c.e6-1	p.E148_splice	CEP63_ENST00000606977.1_Splice_Site_p.E148_splice|CEP63_ENST00000513612.2_Splice_Site_p.E148_splice|CEP63_ENST00000383229.3_Splice_Site_p.E148_splice|CEP63_ENST00000354446.3_Splice_Site_p.E148_splice|CEP63_ENST00000332047.5_Splice_Site_p.E148_splice			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	148					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCCTCCTCAGGAATTCCGTCA	0.468000													7	50					0.0381472	0.0389011	1	1	0
PTPRN2	5799	broad.mit.edu	37	7	157475598	157475598	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:157475598G>T	ENST00000389413.3	-	12	1836	c.1733C>A	c.(1732-1734)gCg>gAg	p.A578E	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A590E|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A630E|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A569E|PTPRN2_ENST00000389418.4_Missense_Mutation_p.A607E	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	607						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTCTTGCTCCGCCTGAGGAGG	0.572000													22	50					5.35047e-06	6.20135e-06	1	1	0
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:105361169A>C	ENST00000453495.1	+	19	4875	c.4647A>C	c.(4645-4647)tcA>tcC	p.S1549S	CEP170B_ENST00000414716.3_Silent_p.S1513S|CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000556508.1_Silent_p.S1478S					centrosomal protein 170B									p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711000													12	34					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164758806	164758806	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:164758806G>T	ENST00000264382.3	-	18	2143	c.2081C>A	c.(2080-2082)aCc>aAc	p.T694N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	694	Isomaltase.		T -> P (in CSID).		carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGGTAATAAGGTGTAGCGAAT	0.368000										HNSCC(35;0.089)			11	42					0.00829132	0.00864656	1	1	0
NPY2R	4887	broad.mit.edu	37	4	156135600	156135600	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:156135600G>T	ENST00000329476.3	+	2	998	c.509G>T	c.(508-510)gGc>gTc	p.G170V	NPY2R_ENST00000506608.1_Missense_Mutation_p.G170V	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	170					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CTGATTATTGGCTTGGCCTGG	0.542000													22	41					8.10497e-08	1.01608e-07	1	1	0
AP5M1	55745	broad.mit.edu	37	14	57741180	57741180	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:57741180C>T	ENST00000261558.3	+	2	699	c.293C>T	c.(292-294)gCt>gTt	p.A98V	AP5M1_ENST00000431972.2_Missense_Mutation_p.A112V	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	98					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											CCAGTTGTTGCTTTTCTGAAG	0.433000													7	33					0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239257490	239257490	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:239257490G>T	ENST00000373327.4	+	11	1589		c.e11+1		TRAF3IP1_ENST00000391993.3_Splice_Site|TRAF3IP1_ENST00000391994.2_Splice_Site	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1							cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CCAACATCAGGTCTGTGTGCT	0.463000													28	32					9.78306e-22	1.69854e-21	1	1	0
COPB1	1315	broad.mit.edu	37	11	14490281	14490281	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:14490281C>G	ENST00000249923.3	-	16	2391	c.2091G>C	c.(2089-2091)atG>atC	p.M697I	COPB1_ENST00000439561.2_Missense_Mutation_p.M697I	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	697					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTGTGTTACCCATTGCTGCCA	0.408000													11	78					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19721518	19721518	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:19721518C>A	ENST00000507958.1	-	7	1571	c.581G>T	c.(580-582)aGc>aTc	p.S194I	CDH18_ENST00000506372.1_Missense_Mutation_p.S194I|CDH18_ENST00000274170.4_Missense_Mutation_p.S194I|CDH18_ENST00000382275.1_Missense_Mutation_p.S194I|CDH18_ENST00000511273.1_Missense_Mutation_p.S194I|CDH18_ENST00000502796.1_Missense_Mutation_p.S194I			Q13634	CAD18_HUMAN	cadherin 18, type 2	194	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CACCCGAGCGCTGTTTCCATA	0.458000													26	52					9.57634e-11	1.33841e-10	1	1	0
CLUH	23277	broad.mit.edu	37	17	2595880	2595880	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:2595880C>G	ENST00000570628.1	-	21	3411	c.3306G>C	c.(3304-3306)gaG>gaC	p.E1102D	CLUH_ENST00000435359.1_Missense_Mutation_p.E1102D|CLUH_ENST00000575014.1_Missense_Mutation_p.E1035D|CLUH_ENST00000538975.1_Missense_Mutation_p.E1102D					clustered mitochondria (cluA/CLU1) homolog																		GCAGCGCCATCTCGGGGTGGT	0.721000													15	45					0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135188390	135188390	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:135188390C>A	ENST00000274513.5	+	4	473	c.301C>A	c.(301-303)Cgc>Agc	p.R101S	SLC25A48_ENST00000412661.2_Missense_Mutation_p.R101S|SLC25A48_ENST00000420621.1_Missense_Mutation_p.R101S|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.R47S			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	101					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.R101S(4)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CAGTCCTCCCCGCACGCTGTC	0.647000													17	79					0.0332995	0.0340653	1	1	0
COL20A1	57642	broad.mit.edu	37	20	61960995	61960995	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:61960995G>A	ENST00000422202.1	+	34	3947	c.3879G>A	c.(3877-3879)caG>caA	p.Q1293Q	COL20A1_ENST00000496810.1_3'UTR|COL20A1_ENST00000435874.1_Silent_p.Q1293Q|COL20A1_ENST00000326996.6_Silent_p.Q1312Q|COL20A1_ENST00000358894.6_Silent_p.Q1280Q			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1280					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTAGCACCCAGGGCCTCTGGG	0.657000													5	20					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156654	155156654	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:155156654T>A	ENST00000357232.3	-	25	7784	c.7785A>T	c.(7783-7785)aaA>aaT	p.K2595N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2595					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTGGAAGGCTTTGAGCACAC	0.433000													25	65					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504534	151504534	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:151504534C>T	ENST00000317605.4	+	1	1458	c.353C>T	c.(352-354)aCg>aTg	p.T118M	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	118					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GAGTTCATCACGGCGTCGGGC	0.617000													54	120					0	0	1	0	0
NXF2B	728343	broad.mit.edu	37	X	101620165	101620165	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:101620165G>A	ENST00000457521.2	-	27	3152	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	NXF2B_ENST00000489531.1_5'UTR|NXF2B_ENST00000372752.1_Silent_p.F339F|NXF2B_ENST00000412230.2_Silent_p.F427F|NXF2B_ENST00000372749.1_Silent_p.F427F|NXF2B_ENST00000372750.1_Silent_p.F427F					nuclear RNA export factor 2B											breast(1)|kidney(1)|lung(4)|ovary(1)	7						CCTTGGGGTCGAAGGGAATAG	0.572000													30	47					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072777	98072777	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:98072777T>C	ENST00000354924.2	+	1	80	c.80T>C	c.(79-81)cTg>cCg	p.L27P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AAGACGCTTCTGTTTGTGGTG	0.453000													27	100					0	0	1	0	0
MTFR1L	56181	broad.mit.edu	37	1	26156050	26156050	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:26156050T>C	ENST00000374301.3	+	6	810	c.502T>C	c.(502-504)Tct>Cct	p.S168P	MTFR1L_ENST00000526894.1_Intron|MTFR1L_ENST00000524618.1_Missense_Mutation_p.S71P|MTFR1L_ENST00000374300.3_Missense_Mutation_p.S168P|MTFR1L_ENST00000374307.5_Missense_Mutation_p.S156P|MTFR1L_ENST00000474295.1_Intron|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000466284.1_Intron|MTFR1L_ENST00000374303.2_Missense_Mutation_p.S168P	NM_019557.5	NP_062457.3			mitochondrial fission regulator 1-like																		TTCAAATGTCTCTTCTCCCTT	0.463000													30	38					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570265	248570265	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248570265C>A	ENST00000366474.1	+	1	970	c.970C>A	c.(970-972)Ctc>Atc	p.L324I		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L324F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGACAAAGTCCTCTCTGTGTT	0.522000													23	107					7.88262e-20	1.32576e-19	1	1	0
AZU1	566	broad.mit.edu	37	19	831733	831733	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:831733C>T	ENST00000233997.2	+	5	633	c.612C>T	c.(610-612)ccC>ccT	p.P204P		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	204	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		GGGGCACCCCCCTCGTCTGCG	0.716000													28	16					0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160616684	160616684	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:160616684C>A	ENST00000302035.6	-	1	401	c.52G>T	c.(52-54)Gct>Tct	p.A18S	SLAMF1_ENST00000235739.5_Missense_Mutation_p.A18S|SLAMF1_ENST00000538290.1_Missense_Mutation_p.A18S|SLAMF1_ENST00000355199.3_Missense_Mutation_p.A18S|SLAMF1_ENST00000494463.1_5'UTR	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	18					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCCCCAAAAGCCAGGGAGAGA	0.557000													4	17					5.9392e-07	7.10721e-07	1	1	0
PDHA2	5161	broad.mit.edu	37	4	96761996	96761996	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:96761996A>T	ENST00000295266.4	+	1	758	c.695A>T	c.(694-696)gAg>gTg	p.E232V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	232					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACATCTACTGAGAGAGCAGCA	0.448000													10	33					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058486	152058486	+	Missense_Mutation	SNP	C	C	A	rs79806918		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:152058486C>A	ENST00000368806.1	-	3	1736	c.1672G>T	c.(1672-1674)Ggc>Tgc	p.G558C		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	558							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTGCTATTGCCTTCCTCTGAA	0.537000													33	147					1.62565e-12	2.38848e-12	1	1	0
RYR3	6263	broad.mit.edu	37	15	33873717	33873717	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:33873717G>T	ENST00000389232.4	+	14	1516	c.1446G>T	c.(1444-1446)ttG>ttT	p.L482F	RYR3_ENST00000415757.3_Missense_Mutation_p.L482F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	482					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGGAATGTTGGCCCTTGTCT	0.438000													16	23					2.35188e-11	3.34133e-11	1	1	0
MEX3A	92312	broad.mit.edu	37	1	156051384	156051384	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:156051384C>T	ENST00000532414.2	-	1	405	c.406G>A	c.(406-408)Gtt>Att	p.V136I	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	136	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGCACGGGAACACACTCCGTG	0.687000													29	21					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641616	156641616	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:156641616C>A	ENST00000368223.3	-	4	2496	c.2364G>T	c.(2362-2364)ctG>ctT	p.L788L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	788	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAAGAGACTTCAGTGGTTCTA	0.428000													12	104					1.08611e-07	1.34075e-07	1	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26431815	26431815	+	RNA	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:26431815C>T	ENST00000466808.2	+	0	1763																											CTAGTTGTTCCACAGCTCCCA	0.483000													34	77					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242959	3242959	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:3242959C>T	ENST00000217939.6	-	5	921	c.767G>A	c.(766-768)tGc>tAc	p.C256Y		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	256	LRRCT.					extracellular region		p.C256Y(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGACTGAAGCACATTGCACA	0.418000													23	7					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193649	28193649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr22:28193649C>A	ENST00000302326.4	-	1	3837	c.2883G>T	c.(2881-2883)aaG>aaT	p.K961N		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	961							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCGCCGAGTACTTGTCAAAGA	0.711000			T	ETV6	"""AML, meningioma"""								12	25					1.08611e-07	1.34075e-07	1	1	0
ZNF496	84838	broad.mit.edu	37	1	247464299	247464299	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:247464299C>A	ENST00000294753.4	-	9	1750	c.1286G>T	c.(1285-1287)aGg>aTg	p.R429M	ZNF496_ENST00000366498.2_Missense_Mutation_p.R465M|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	429					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)			CTCCTGCTCCCTGCGGCTCCG	0.627000													37	143					2.05212e-20	3.49239e-20	1	1	0
RPS20	6224	broad.mit.edu	37	8	56986254	56986254	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:56986254C>G	ENST00000523936.1	-	3	276	c.177G>C	c.(175-177)aaG>aaC	p.K59N	RPS20_ENST00000009589.3_Splice_Site_p.K59_splice|RPS20_ENST00000519606.1_Intron|RPS20_ENST00000521262.1_Splice_Site_p.K59_splice|RPS20_ENST00000520627.1_Splice_Site_p.K4_splice|RPS20_ENST00000524349.1_Splice_Site_p.K4_splice|RPS20_ENST00000520490.1_Intron|RPS20_ENST00000518875.1_Missense_Mutation_p.K59N|RPS20_ENST00000519807.1_Splice_Site_p.K59_splice			P60866	RS20_HUMAN	ribosomal protein S20	59					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			TTTACTTTACCTTGGTAGGCA	0.423000													17	83					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24998155	24998155	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:24998155C>A	ENST00000533227.1	+	8	570	c.283C>A	c.(283-285)Ctg>Atg	p.L95M	LUZP2_ENST00000336930.6_Missense_Mutation_p.L181M	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	181						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCTTACTGATCTGGAACAAAA	0.363000													7	17					0.00198382	0.00208908	1	1	0
PARP10	84875	broad.mit.edu	37	8	145059360	145059360	+	Silent	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:145059360A>G	ENST00000313028.7	-	5	904	c.810T>C	c.(808-810)ccT>ccC	p.P270P	PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Silent_p.P282P|PARP10_ENST00000524918.1_Silent_p.P270P	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	270						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGTAGCCCTAGGCCCCTGGG	0.647000													53	116					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825260	196825260	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:196825260G>A	ENST00000312428.6	-	18	2715	c.2615C>T	c.(2614-2616)aCa>aTa	p.T872I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	872	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGAGGAGACTGTGGAGTCATC	0.453000													12	113					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18706841	18706841	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:18706841G>T	ENST00000380548.4	+	14	2010	c.1671G>T	c.(1669-1671)caG>caT	p.Q557H	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.Q557H	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	557	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTTTCTCTCAGTCCGTGGCTG	0.602000													11	10					1.58986e-06	1.87299e-06	1	1	0
GABRD	2563	broad.mit.edu	37	1	1961093	1961093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:1961093C>A	ENST00000378585.4	+	8	1034	c.951C>A	c.(949-951)tgC>tgA	p.C317*		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	317						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCTGGATCTGCTATGTCTTCG	0.582000													35	31					6.50621e-10	8.87211e-10	1	1	0
OR52E6	390078	broad.mit.edu	37	11	5862206	5862206	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:5862206A>C	ENST00000329322.5	-	1	921	c.922T>G	c.(922-924)Ttc>Gtc	p.F308V	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.F312V	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTTGAAGAAAATCCTCAGC	0.443000													6	39					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139672686	139672686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:139672686C>A	ENST00000303045.6	-	44	3724	c.3278G>T	c.(3277-3279)gGc>gTc	p.G1093V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1073V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1093	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TACCGGCTTGCCAGGAGGCCC	0.438000										HNSCC(7;0.00092)			21	26					4.54149e-19	7.56914e-19	1	1	0
EBF1	1879	broad.mit.edu	37	5	158140129	158140129	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:158140129G>T	ENST00000313708.6	-	13	1500	c.1218C>A	c.(1216-1218)gaC>gaA	p.D406E	EBF1_ENST00000517373.1_Missense_Mutation_p.D398E|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.D375E	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	406					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCGGCAATGTCGGCCGCTC	0.527000			T	HMGA2	lipoma								9	36					0.000274275	0.000296825	1	1	0
TMEM30A	55754	broad.mit.edu	37	6	75965950	75965950	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:75965950C>A	ENST00000230461.6	-	7	1283	c.954G>T	c.(952-954)atG>atT	p.M318I	TMEM30A_ENST00000475111.2_Missense_Mutation_p.M282I|TMEM30A_ENST00000370050.5_Missense_Mutation_p.M199I	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	318						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTTTCCTCCCATCCATGAAA	0.383000													17	42					1.33834e-09	1.78722e-09	1	1	0
ASB15	142685	broad.mit.edu	37	7	123269238	123269238	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:123269238G>T	ENST00000451558.1	+	12	1711	c.1190G>T	c.(1189-1191)aGg>aTg	p.R397M	ASB15_ENST00000434204.1_Missense_Mutation_p.R397M|ASB15_ENST00000275699.3_Missense_Mutation_p.R397M|ASB15_ENST00000540573.1_Missense_Mutation_p.R397M|ASB15_ENST00000451215.1_Missense_Mutation_p.R397M			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	397					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAAATTGTCAGGCTGCTTCTC	0.443000													15	68					1.49906e-05	1.70378e-05	1	1	0
DLG5	9231	broad.mit.edu	37	10	79593759	79593759	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:79593759G>C	ENST00000372391.2	-	9	1666	c.1661C>G	c.(1660-1662)gCg>gGg	p.A554G	DLG5_ENST00000372388.2_Missense_Mutation_p.A554G	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	554					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTCGCTCACCGCACGGTCCCG	0.622000													41	21					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648087	130648087	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:130648087C>A	ENST00000539839.1	+	1	1084	c.502C>A	c.(502-504)Cgt>Agt	p.R168S	FZD10_ENST00000229030.4_Missense_Mutation_p.H200Q	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AGTTCCACCACGTGGAGAAGA	0.731000													35	21					2.42023e-17	3.93707e-17	1	1	0
LRP5	4041	broad.mit.edu	37	11	68115494	68115494	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:68115494T>C	ENST00000294304.7	+	2	377	c.271T>C	c.(271-273)Tac>Cac	p.Y91H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	91	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAAGCAGACCTACCTGAACCA	0.647000													52	192					0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	38016008	38016008	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:38016008C>A	ENST00000377707.3	-	2	1403	c.838_splice	c.e2+1	p.E280_splice	SHB_ENST00000377700.4_Splice_Site_p.G280_splice|RP11-613M10.9_ENST00000540557.1_Splice_Site_p.G280_splice	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	280	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CTCCACTTACCTGTCATGATC	0.582000													97	73					9.98844e-40	1.91458e-39	1	1	0
MLXIPL	51085	broad.mit.edu	37	7	73011252	73011252	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:73011252C>A	ENST00000313375.3	-	10	1661	c.1614G>T	c.(1612-1614)gaG>gaT	p.E538D	MLXIPL_ENST00000434326.1_Missense_Mutation_p.E445D|MLXIPL_ENST00000429400.2_Missense_Mutation_p.E538D|MLXIPL_ENST00000414749.2_Missense_Mutation_p.E538D|MLXIPL_ENST00000395189.1_Missense_Mutation_p.E445D|MLXIPL_ENST00000354613.1_Missense_Mutation_p.E538D	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	538					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCAGGGCTTGCTCCGGCTTAG	0.672000													4	14					0.00909568	0.0094396	1	1	0
ALOX5	240	broad.mit.edu	37	10	45877967	45877967	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:45877967G>T	ENST00000374391.2	+	2	240	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	ALOX5_ENST00000542434.1_Missense_Mutation_p.G63C	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	63	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CGAGGAACTGGGCGAGATCCA	0.547000													43	28					1.03325e-14	1.6001e-14	1	1	0
NEO1	4756	broad.mit.edu	37	15	73409057	73409057	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:73409057C>A	ENST00000339362.5	+	3	754	c.307C>A	c.(307-309)Ctt>Att	p.L103I	NEO1_ENST00000560262.1_Missense_Mutation_p.L103I|NEO1_ENST00000261908.6_Missense_Mutation_p.L103I|NEO1_ENST00000558964.1_Missense_Mutation_p.L103I			Q92859	NEO1_HUMAN	neogenin 1	103	Ig-like C2-type 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCGACGCCAGCTTCTCCCGGA	0.373000													27	52					1.61788e-16	2.59263e-16	1	1	0
SI	6476	broad.mit.edu	37	3	164764724	164764724	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:164764724C>G	ENST00000264382.3	-	16	1854	c.1792G>C	c.(1792-1794)Gct>Cct	p.A598P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	598	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAATGCGCAGCATGTCTTCCA	0.378000										HNSCC(35;0.089)			9	41					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62390883	62390883	+	Silent	SNP	G	G	T	rs148715867		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:62390883G>T	ENST00000281156.4	-	9	1313	c.1035C>A	c.(1033-1035)ccC>ccA	p.P345P	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.P345P(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATCTACCATAGGGGTGTTCCC	0.493000													22	24					5.35356e-11	7.52297e-11	1	1	0
ASB2	51676	broad.mit.edu	37	14	94417371	94417371	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:94417371T>G	ENST00000555019.1	-	6	1284	c.854A>C	c.(853-855)gAg>gCg	p.E285A	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.E237A	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	237					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCTCAAGGCCTCCAACTGTCC	0.582000													12	258					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110015057	110015057	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:110015057C>A	ENST00000309415.6	+	4	957	c.957C>A	c.(955-957)tcC>tcA	p.S319S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	319	SH3 2.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCAATGACTCCGCCAAGCAGC	0.597000													5	12					0.184627	0.185779	1	1	0
PIGR	5284	broad.mit.edu	37	1	207105834	207105834	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:207105834C>A	ENST00000356495.4	-	8	2158	c.1975G>T	c.(1975-1977)Ggg>Tgg	p.G659W		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	659						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGGCCACCCCCACAGCCACG	0.657000													35	134					3.6622e-26	6.6445e-26	1	1	0
GRIN2C	2905	broad.mit.edu	37	17	72840455	72840455	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:72840455G>T	ENST00000293190.5	-	12	2689	c.2543C>A	c.(2542-2544)cCc>cAc	p.P848H	GRIN2C_ENST00000347612.4_Missense_Mutation_p.P848H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	848					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGATGAGTTGGGCACCGAGTG	0.617000													20	121					1.22574e-08	1.59235e-08	1	1	0
SNIP1	79753	broad.mit.edu	37	1	38005881	38005881	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:38005881T>A	ENST00000296215.6	-	3	875	c.803A>T	c.(802-804)gAg>gTg	p.E268V		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	268					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TGGAAGCACCTCATCATTTTT	0.483000													22	81					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123620246	123620246	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:123620246C>A	ENST00000373896.3	-	15	1971	c.1719G>T	c.(1717-1719)gaG>gaT	p.E573D	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.E364D	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCCTTCCCACTCCACCAGGT	0.612000													17	28					1.15088e-07	1.41663e-07	1	1	0
OR11H6	122748	broad.mit.edu	37	14	20692448	20692448	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:20692448C>A	ENST00000315519.2	+	1	658	c.580C>A	c.(580-582)Cac>Aac	p.H194N		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CATCATTGACCACTTGGTGTG	0.488000													14	19					0.00185496	0.00196139	1	1	0
UGT2B7	7364	broad.mit.edu	37	4	69964359	69964359	+	Missense_Mutation	SNP	G	G	T	rs112352348		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:69964359G>T	ENST00000305231.7	+	2	869	c.823G>T	c.(823-825)Gat>Tat	p.D275Y	UGT2B7_ENST00000508661.1_Missense_Mutation_p.D275Y|UGT2B7_ENST00000509763.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	275					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCAAATGTTGATTTTGTTGG	0.393000													11	54					3.65163e-15	5.74463e-15	1	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856842	19856842	+	RNA	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:19856842C>A	ENST00000548109.1	+	0	72																											CCCATACCTGCTCTCATGTCA	0.338000													7	36					0.00198382	0.00208908	1	1	0
KDM4A	9682	broad.mit.edu	37	1	44137189	44137189	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:44137189C>A	ENST00000372396.3	+	11	1511	c.1377C>A	c.(1375-1377)tcC>tcA	p.S459S		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	459					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						ATTCTGACTCCACTGAAGTCA	0.438000													19	40					4.63292e-17	7.50813e-17	1	1	0
TONSL	4796	broad.mit.edu	37	8	145667640	145667640	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:145667640C>A	ENST00000409379.3	-	6	763	c.734G>T	c.(733-735)tGc>tTc	p.C245F		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	245					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AATAACCACGCAGCACTCGCT	0.622000													60	118					1.44317e-28	2.65955e-28	1	1	0
DPP10	57628	broad.mit.edu	37	2	116535372	116535372	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:116535372G>A	ENST00000410059.1	+	15	1803	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	DPP10_ENST00000409163.1_Silent_p.L391L|DPP10_ENST00000310323.8_Silent_p.L434L|DPP10_ENST00000393147.2_Silent_p.L445L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	441					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTTACTTTCTGAGCACTGAAT	0.408000													32	54					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29440433	29440433	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:29440433G>T	ENST00000222792.6	+	6	1095	c.565G>T	c.(565-567)Gcg>Tcg	p.A189S	CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Missense_Mutation_p.A174S|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000539406.1_Missense_Mutation_p.A264S|CHN2_ENST00000495789.2_Missense_Mutation_p.A202S	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	189					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGAACACACAGCGGTGGAAAA	0.448000													13	32					1.5842e-08	2.04362e-08	1	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374264	95374264	+	RNA	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:95374264A>T	ENST00000494840.1	-	0	1597					NR_077228.1																						TTGACCTTCCAGTCACAACCA	0.463000													12	29					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166904670	166904670	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:166904670C>A	ENST00000271417.3	-	6	803	c.748G>T	c.(748-750)Gtc>Ttc	p.V250F	ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.V231F|ILDR2_ENST00000469934.2_Missense_Mutation_p.V250F|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000528703.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	250						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ACACCGGAGACAGAGGGAGGG	0.602000													24	46					7.87624e-14	1.19534e-13	1	1	0
EYA4	2070	broad.mit.edu	37	6	133846174	133846174	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:133846174G>T	ENST00000355167.3	+	19	2218	c.1760G>T	c.(1759-1761)cGt>cTt	p.R587L	EYA4_ENST00000531901.1_Intron|EYA4_ENST00000430974.2_Missense_Mutation_p.R539L|EYA4_ENST00000431403.2_Missense_Mutation_p.R587L|EYA4_ENST00000525849.1_Missense_Mutation_p.R564L|EYA4_ENST00000367895.5_Intron|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000452339.2_Missense_Mutation_p.R533L|RP3-323P13.2_ENST00000607033.1_RNA	NM_172105.3	NP_742103.1	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	587					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGTTTTGAGCGTATAGTGTCC	0.408000													17	41					4.14922e-12	6.03437e-12	1	1	0
BTNL8	79908	broad.mit.edu	37	5	180377117	180377117	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:180377117G>T	ENST00000340184.4	+	8	1282	c.1076G>T	c.(1075-1077)cGg>cTg	p.R359L	BTNL8_ENST00000511704.1_Missense_Mutation_p.R243L|BTNL8_ENST00000400707.3_Missense_Mutation_p.R234L|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.R175L|BTNL8_ENST00000505126.1_Missense_Mutation_p.R152L|BTNL8_ENST00000231229.4_3'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	359	B30.2/SPRY.					integral to membrane		p.R359Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGTGTGCCGGGATGATGTG	0.498000													19	34					3.51602e-12	5.13084e-12	1	1	0
OR5K4	403278	broad.mit.edu	37	3	98073437	98073437	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:98073437C>T	ENST00000354924.2	+	1	740	c.740C>T	c.(739-741)tCt>tTt	p.S247F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CACTTTCTCTCTGTCTCAATA	0.368000													9	30					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26582726	26582726	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:26582726C>A	ENST00000436318.2	-	4	1105	c.972G>T	c.(970-972)ggG>ggT	p.G324G	MUC15_ENST00000527569.1_Silent_p.G274G|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Silent_p.G274G|MUC15_ENST00000529533.1_Silent_p.G324G|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000455601.2_Silent_p.G297G			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	297						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGCTAGAATTCCCAAAACTCA	0.383000													13	7					0.00185496	0.00196139	1	1	0
RIMBP2	23504	broad.mit.edu	37	12	130941231	130941231	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:130941231C>G	ENST00000261655.4	-	4	280	c.117G>C	c.(115-117)gaG>gaC	p.E39D	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	39						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCTCTTCCAGCTCTCGAACCT	0.572000													15	22					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553205	140553205	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:140553205C>T	ENST00000231137.3	+	1	963	c.789C>T	c.(787-789)tcC>tcT	p.S263S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		263	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S263S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTTGTCTCCGTGTCAGCCA	0.458000													29	51					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75512560	75512560	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:75512560G>T	ENST00000332272.4	-	3	1346	c.1167C>A	c.(1165-1167)acC>acA	p.T389T	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.T389T	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	389					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGTGCGAGGCGGTGGATGATG	0.647000													30	71					8.4185e-14	1.27016e-13	1	1	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76878047	76878047	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:76878047G>A	ENST00000328299.3	+	3	716	c.568G>A	c.(568-570)Gag>Aag	p.E190K	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	190					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CGTGACCACAGAGAAGCGCAT	0.408000													17	48					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596400	11596400	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:11596400A>G	ENST00000294484.6	+	21	3974	c.3836A>G	c.(3835-3837)cAg>cGg	p.Q1279R	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Q1279R|PTCHD2_ENST00000304391.6_Silent_p.P165P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1279					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACGCAGCGCCAGTGGCGTACG	0.692000													42	41					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41331482	41331482	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:41331482G>T	ENST00000551295.2	+	11	1338	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N	CNTN1_ENST00000347616.1_Missense_Mutation_p.K407N|CNTN1_ENST00000547849.1_Missense_Mutation_p.K407N|CNTN1_ENST00000348761.2_Missense_Mutation_p.K396N|CNTN1_ENST00000547702.1_Missense_Mutation_p.K407N|CNTN1_ENST00000360099.3_Missense_Mutation_p.K407N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	407	Ig-like C2-type 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGAGTTGAAGATCTTGGGTC	0.343000													13	36					6.72482e-11	9.41913e-11	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104898050	104898050	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:104898050G>A	ENST00000507740.1	+	2	883	c.647G>A	c.(646-648)cGa>cAa	p.R216Q	RIMS2_ENST00000406091.3_Missense_Mutation_p.R408Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R216Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R186Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	439					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)			GAAAATCAGCGATCTTATTCA	0.458000										HNSCC(12;0.0054)			23	45					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3843558	3843558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:3843558C>A	ENST00000262367.5	-	4	1854	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E349*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	349	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGCGTTTTTCAGGATCTGCA	0.448000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						16	62					2.23348e-06	2.60978e-06	1	1	0
BCL2L10	10017	broad.mit.edu	37	15	52404576	52404576	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:52404576G>T	ENST00000260442.3	-	1	396	c.348C>A	c.(346-348)gcC>gcA	p.A116A	BCL2L10_ENST00000561198.1_Silent_p.A116A	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	106					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		TCTTCCACCGGGCGGTCACCA	0.701000													6	27					3.59834e-05	4.00851e-05	1	1	0
GNGT1	2792	broad.mit.edu	37	7	93540200	93540200	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:93540200G>A	ENST00000248572.5	+	3	343	c.195G>A	c.(193-195)aaG>aaA	p.K65K	GNGT1_ENST00000429473.1_Silent_p.K65K|GNGT1_ENST00000455502.1_3'UTR	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	65					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.K65K(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATCCCTTCAAGGAGCTCAAAG	0.348000													13	35					0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59482616	59482616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:59482616G>T	ENST00000240328.3	+	6	1386	c.1105G>T	c.(1105-1107)Gag>Tag	p.E369*	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	369					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						GCGGTTGAGCGAGGAGCGTGC	0.751000													5	20					0.000602214	0.000644694	1	1	0
LIPI	149998	broad.mit.edu	37	21	15537607	15537607	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:15537607C>G	ENST00000344577.2	-	6	926	c.901G>C	c.(901-903)Gat>Cat	p.D301H	LIPI_ENST00000536861.1_Missense_Mutation_p.D280H	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	280					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GTCTTGTAATCTTTGTATGAA	0.343000													10	30					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974909	20974909	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:20974909G>C	ENST00000261383.3	-	53	10296	c.10297C>G	c.(10297-10299)Cat>Gat	p.H3433D	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3433					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCAGGCCATGCAGTTTGGGT	0.552000													12	42					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89156961	89156961	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:89156961A>T	ENST00000336596.2	+	1	288	c.63A>T	c.(61-63)gaA>gaT	p.E21D	EPHA3_ENST00000452448.2_Missense_Mutation_p.E21D|EPHA3_ENST00000494014.1_Missense_Mutation_p.E21D	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	21						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCTTCGGGGAACTGATTCCGC	0.587000										TSP Lung(6;0.00050)			16	66					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245530405	245530405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:245530405G>A	ENST00000407071.2	+	3	1175	c.735G>A	c.(733-735)tgG>tgA	p.W245*	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	245					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)			CCAGAGACTGGGCCTTTGTGC	0.672000													10	17					0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30064325	30064325	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:30064325G>A	ENST00000201979.2	+	2	370	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	26					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	p.R26L(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTGTCCCCACGGGGCCACCAG	0.647000													39	165					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394404	164394404	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:164394404T>A	ENST00000280605.3	-	1	643	c.483A>T	c.(481-483)gaA>gaT	p.E161D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	161						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACACAGAGCCTTCTGAGGATT	0.537000													22	64					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25966994	25966994	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:25966994G>C	ENST00000357085.3	+	3	720	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	TRIM38_ENST00000349458.3_Missense_Mutation_p.E82Q	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	82					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AAGCCTCATTGAAGCCCTCAA	0.547000													55	41					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89042865	89042865	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:89042865G>A	ENST00000237612.3	-	6	1156	c.611C>T	c.(610-612)cCt>cTt	p.P204L	ABCG2_ENST00000515655.1_Missense_Mutation_p.P204L	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	204	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CAAGATGGAAGGATCAGTGAT	0.398000													6	29					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15628643	15628643	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:15628643T>A	ENST00000378076.3	-	23	2665	c.2312A>T	c.(2311-2313)gAc>gTc	p.D771V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	771					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAAATTGCTGTCTGGATTGTC	0.358000													11	8					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118435964	118435964	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:118435964C>A	ENST00000369209.3	-	11	1440	c.1336G>T	c.(1336-1338)Gat>Tat	p.D446Y		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	446							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TTCATGGCATCTGGACTCATC	0.547000													56	26					4.09106e-26	7.40179e-26	1	1	0
RYR2	6262	broad.mit.edu	37	1	237666753	237666753	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:237666753C>A	ENST00000366574.2	+	22	2878	c.2561C>A	c.(2560-2562)aCa>aAa	p.T854K	RYR2_ENST00000360064.6_Missense_Mutation_p.T852K|RYR2_ENST00000542537.1_Missense_Mutation_p.T838K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	854	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGGCCCCACAGTTTCCCTG	0.507000													37	47					1.22674e-20	2.10439e-20	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51412355	51412355	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:51412355C>A	ENST00000319760.6	-	1	93	c.41G>T	c.(40-42)gGc>gTc	p.G14V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTGAGAAAAGCCCAGGAGGAC	0.423000													12	11					1.5842e-08	2.04362e-08	1	1	0
TRIM58	25893	broad.mit.edu	37	1	248020678	248020678	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248020678T>G	ENST00000366481.3	+	1	178	c.130T>G	c.(130-132)Tgc>Ggc	p.C44G		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	44						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCCGAGTTCTGCGAGAAGTC	0.716000													10	32					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14593637	14593637	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:14593637G>A	ENST00000393033.4	-	4	421	c.152C>T	c.(151-153)cCc>cTc	p.P51L	GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000345425.2_Missense_Mutation_p.P51L|GIPC1_ENST00000586027.1_Missense_Mutation_p.P51L|GIPC1_ENST00000591349.1_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	51	Poly-Pro.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CAGGGCTGGGGGAGGGGGGGG	0.726000													9	13					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120372966	120372966	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:120372966C>A	ENST00000331113.4	+	2	2090	c.1125C>A	c.(1123-1125)gaC>gaA	p.D375E		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	375					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)					GGTATGGTGACATGGTGCCAA	0.363000													23	36					1.77063e-15	2.8026e-15	1	1	0
LARGE	9215	broad.mit.edu	37	22	33673100	33673100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr22:33673100C>A	ENST00000354992.2	-	15	2590	c.2019G>T	c.(2017-2019)agG>agT	p.R673S	LARGE_ENST00000397394.2_Missense_Mutation_p.R673S|LARGE_ENST00000337431.2_Missense_Mutation_p.R621S|LARGE_ENST00000452586.2_Missense_Mutation_p.R472S|LARGE_ENST00000402320.1_Missense_Mutation_p.R621S|LARGE_ENST00000437602.2_Missense_Mutation_p.R624S	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	673					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGCCTACAAACCTCCGGTCGT	0.582000													23	63					1.64293e-13	2.44733e-13	1	1	0
DSC3	1825	broad.mit.edu	37	18	28602457	28602457	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:28602457C>A	ENST00000434452.1	-	7	941	c.787G>T	c.(787-789)Ggg>Tgg	p.G263W	DSC3_ENST00000360428.4_Missense_Mutation_p.G263W	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	263	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CAAACCACCCCCACTGTAGTA	0.388000													14	32					0.000308642	0.000332622	1	1	0
PEG3	5178	broad.mit.edu	37	19	57333063	57333063	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:57333063T>C	ENST00000326441.9	-	7	988	c.625A>G	c.(625-627)Aga>Gga	p.R209G	ZIM2_ENST00000221722.5_Missense_Mutation_p.R84G|PEG3_ENST00000598410.1_Missense_Mutation_p.R84G|PEG3_ENST00000593695.1_Missense_Mutation_p.R83G|PEG3_ENST00000423103.2_Missense_Mutation_p.R209G|ZIM2_ENST00000593711.1_Missense_Mutation_p.R84G|ZIM2_ENST00000391708.3_Missense_Mutation_p.R84G|ZIM2_ENST00000601070.1_Missense_Mutation_p.R84G|ZIM2_ENST00000599935.1_Missense_Mutation_p.R84G	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	209					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCGTCCTCTCTGTCCATTTCA	0.517000													36	83					0	0	1	0	0
JUND	3727	broad.mit.edu	37	19	18391641	18391641	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:18391641T>A	ENST00000252818.3	-	1	791	c.654A>T	c.(652-654)gaA>gaT	p.E218D		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	218					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						AGGGCACAGGTTCGGCAGCGA	0.786000													5	10					0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55686368	55686368	+	Splice_Site	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:55686368C>T	ENST00000354308.3	-	7	1078		c.e7-1		CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Splice_Site	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V						energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCTTCTCCTGCTGAAAGGAGA	0.597000													18	39					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878899	131878899	+	Silent	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:131878899A>G	ENST00000359827.3	-	14	3740	c.2778T>C	c.(2776-2778)caT>caC	p.H926H	PLXNA4_ENST00000321063.4_Silent_p.H926H			Q9HCM2	PLXA4_HUMAN	plexin A4	926	IPT/TIG 1.					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						CGAAGCCTGCATGCTGGCTGG	0.582000													32	101					0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52740551	52740551	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:52740551G>T	ENST00000334635.5	+	4	431	c.251_splice	c.e4+1	p.S84_splice	DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000381437.4_Splice_Site_p.S24_splice|DCUN1D4_ENST00000451288.2_Splice_Site_p.S128_splice|DCUN1D4_ENST00000381441.3_Splice_Site_p.S84_splice	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	84										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AGACATGATAGGTATGATGTA	0.398000													10	20					1.08611e-07	1.34075e-07	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140772562	140772562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:140772562C>A	ENST00000371372.1	+	1	322	c.177C>A	c.(175-177)taC>taA	p.Y59*	RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.Y59*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.Y59*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.Y59*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.Y59*|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	59					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)	TGGCGCTGTACAACCCCATCC	0.687000													9	28					0.000274275	0.000296825	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20555485	20555485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:20555485G>A	ENST00000504154.1	+	26	2871	c.2619G>A	c.(2617-2619)tgG>tgA	p.W873*	SLIT2_ENST00000273739.5_Nonsense_Mutation_p.W877*|SLIT2_ENST00000503823.1_Nonsense_Mutation_p.W865*|SLIT2_ENST00000503837.1_Nonsense_Mutation_p.W869*	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	873	LRRCT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TATCCGACTGGGTGAAGTCGG	0.443000													19	44					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12962030	12962030	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:12962030G>A	ENST00000273221.4	-	6	2178	c.1962C>T	c.(1960-1962)atC>atT	p.I654I		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	654	SEC7.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGAAGGCCAGGATGAAAATGG	0.597000													34	97					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248028109	248028109	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248028109G>A	ENST00000366481.3	+	3	667	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	207						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTGGAGGCGGAGGAGCGAGC	0.627000													14	56					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8669981	8669981	+	Silent	SNP	C	C	T	rs114628276	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:8669981C>T	ENST00000270328.4	-	3	617	c.351G>A	c.(349-351)gcG>gcA	p.A117A	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.A117A			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	117					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						GGGGCCGGGCCGCCCTCTGCC	0.677000													4	39					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213685	3213685	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:3213685G>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							CAGCTCTACAGCCCATCCTCT	0.527000													69	26					9.61844e-40	1.8464e-39	1	1	0
MCHR2	84539	broad.mit.edu	37	6	100395734	100395734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:100395734C>A	ENST00000281806.2	-	3	610	c.296G>T	c.(295-297)tGg>tTg	p.W99L	MCHR2_ENST00000445970.1_Missense_Mutation_p.W99L|MCHR2_ENST00000369212.1_Missense_Mutation_p.W99L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	99						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CCCAAACACCCACTCTCCCCC	0.498000													21	71					1.50039e-11	2.14104e-11	1	1	0
CT47B1	643311	broad.mit.edu	37	X	120009127	120009127	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:120009127C>G	ENST00000371311.3	-	1	652	c.398G>C	c.(397-399)cGc>cCc	p.R133P		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	133										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ATAGAGGCGGCGGAGAAGGGA	0.652000													32	39					0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4839254	4839254	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:4839254C>G	ENST00000221957.4	-	8	1431	c.1255G>C	c.(1255-1257)Gga>Cga	p.G419R	PLIN3_ENST00000592528.1_Missense_Mutation_p.G407R|PLIN3_ENST00000585479.1_Missense_Mutation_p.G418R	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	419					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GCAAAGGGTCCCACGAGCCAC	0.622000													21	96					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685623	248685623	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248685623T>G	ENST00000343414.4	+	1	708	c.676T>G	c.(676-678)Tta>Gta	p.L226V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAAGCTGTGTTAAGGATAAA	0.458000													10	128					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89873443	89873443	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:89873443C>A	ENST00000268124.5	-	3	1057	c.724G>T	c.(724-726)Gct>Tct	p.A242S	POLG_ENST00000442287.2_Missense_Mutation_p.A242S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	242					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ATGAGGTCAGCCGGCGACAGC	0.617000								DNA polymerases (catalytic subunits)					13	43					4.3838e-07	5.28514e-07	1	1	0
SLC25A14	9016	broad.mit.edu	37	X	129506911	129506911	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:129506911G>A	ENST00000218197.5	+	10	1192	c.965G>A	c.(964-966)aGg>aAg	p.R322K	SLC25A14_ENST00000339231.3_Missense_Mutation_p.R350K|SLC25A14_ENST00000361980.5_Missense_Mutation_p.R319K	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	322					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						CAGCTAAAGAGGCTTCAAATC	0.403000													57	56					0	0	1	0	0
CA14	23632	broad.mit.edu	37	1	150235698	150235698	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:150235698C>A	ENST00000369111.4	+	8	1691	c.720_splice	c.e8-1	p.L241_splice		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	241						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTCCTCAGCTGGAAAAGCT	0.532000													33	139					9.04072e-19	1.5029e-18	1	1	0
OR2T27	403239	broad.mit.edu	37	1	248813379	248813379	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248813379C>T	ENST00000344889.3	-	1	806	c.807G>A	c.(805-807)gaG>gaA	p.E269E		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E269D(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTTGTCCTGCTCAGGGGTGT	0.527000													4	48					0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220404347	220404347	+	Missense_Mutation	SNP	C	C	G	rs142415191	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:220404347C>G	ENST00000243776.6	-	4	2334	c.2086G>C	c.(2086-2088)Gaa>Caa	p.E696Q	CHPF_ENST00000535926.1_Missense_Mutation_p.E534Q	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	696						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCTTCTTGTTCTGAGGCTGCC	0.647000													33	135					0	0	1	0	0
C7orf33	202865	broad.mit.edu	37	7	148288109	148288109	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:148288109G>A	ENST00000307003.2	+	1	453	c.92G>A	c.(91-93)gGg>gAg	p.G31E		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	31										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CTGCCCAGTGGGGCAAGGCGC	0.562000													26	111					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55441949	55441949	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:55441949A>T	ENST00000446217.1	-	11	3214	c.2812T>A	c.(2812-2814)Ttg>Atg	p.L938M	NLRP7_ENST00000448121.2_Missense_Mutation_p.L882M|NLRP7_ENST00000340844.2_Missense_Mutation_p.L910M|NLRP7_ENST00000328092.5_Missense_Mutation_p.L882M|NLRP7_ENST00000592784.1_Missense_Mutation_p.L910M|NLRP7_ENST00000590030.1_Missense_Mutation_p.L910M|NLRP7_ENST00000588756.1_Missense_Mutation_p.L910M			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	910							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTGATACTCAAGTCCAGGTTT	0.448000													43	39					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649492	75649492	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:75649492C>A	ENST00000361470.2	+	1	1447	c.1169C>A	c.(1168-1170)aCc>aAc	p.T390N		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	390	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GGCGCAAGCACCTTAGTGCAG	0.652000													7	24					2.0095e-06	2.35874e-06	1	1	0
OR2T33	391195	broad.mit.edu	37	1	248436715	248436715	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248436715C>A	ENST00000318021.2	-	1	423	c.402G>T	c.(400-402)atG>atT	p.M134I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTGCCAGCTCATGAGAGTGG	0.592000													47	224					8.44121e-28	1.55116e-27	1	1	0
SCUBE2	57758	broad.mit.edu	37	11	9069555	9069555	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:9069555C>T	ENST00000457346.2	-	15	1804	c.1730G>A	c.(1729-1731)aGc>aAc	p.S577N	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.S577N|SCUBE2_ENST00000309263.3_Missense_Mutation_p.S548N|SCUBE2_ENST00000450649.2_Intron			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	548						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)		CTTAGGGGTGCTTGGTCGGCC	0.483000													48	131					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634870	70634870	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:70634870C>T	ENST00000381269.2	-	2	1023	c.270G>A	c.(268-270)ggG>ggA	p.G90G	SLC8A3_ENST00000356921.2_Silent_p.G90G|SLC8A3_ENST00000534137.1_Silent_p.G90G|SLC8A3_ENST00000357887.3_Silent_p.G90G|SLC8A3_ENST00000528359.1_Silent_p.G90G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	90					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGATGGACACCCCAAGGAACA	0.488000													7	30					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34646811	34646811	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:34646811G>C	ENST00000537011.1	+	6	1622	c.1240G>C	c.(1240-1242)Ggg>Cgg	p.G414R	NUTM1_ENST00000438749.3_Missense_Mutation_p.G404R|NUTM1_ENST00000333756.4_Missense_Mutation_p.G386R					NUT midline carcinoma, family member 1																		CTTGGCCACTGGGGAGTCAGA	0.542000													19	68					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77387641	77387641	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:77387641C>A	ENST00000282849.5	-	10	2021	c.1603G>T	c.(1603-1605)Ggt>Tgt	p.G535C		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	535	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCACAAAACCAAGGCTGCAT	0.398000													16	32					4.7546e-09	6.25223e-09	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113113542	113113542	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:113113542C>T	ENST00000401611.2	+	17	1901	c.1901C>T	c.(1900-1902)cCt>cTt	p.P634L	NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000533760.1_Intron			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	359	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGGCCTCTTCCTGCCCTTGCA	0.463000													12	72					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29598871	29598871	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:29598871C>T	ENST00000431530.3	+	1	124	c.66C>T	c.(64-66)taC>taT	p.Y22Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	12						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AATCATGTTACACTCAGTTGC	0.458000													16	47					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95484621	95484621	+	RNA	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:95484621C>A	ENST00000432432.2	-	0	1313					NR_040113.1																						CATATATTTTCTGAAAGTTGT	0.284000													9	42					0.000673444	0.000717969	1	1	0
DLD	1738	broad.mit.edu	37	7	107559657	107559657	+	Missense_Mutation	SNP	A	A	G	rs121964989		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:107559657A>G	ENST00000205402.5	+	14	1764	c.1483A>G	c.(1483-1485)Aga>Gga	p.R495G	DLD_ENST00000440410.1_Missense_Mutation_p.R472G|DLD_ENST00000537148.1_Missense_Mutation_p.R396G|DLD_ENST00000437604.2_Missense_Mutation_p.R447G	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	495			R -> G (in DLD deficiency; loss of enzyme activity).		branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	AGAAGCTTTTAGAGAAGCAAA	0.303000													25	104					0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163000668	163000668	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:163000668C>T	ENST00000418842.2	-	5	659	c.405G>A	c.(403-405)gaG>gaA	p.E135E	GCG_ENST00000375497.3_Silent_p.E135E	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	135					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	CAATGGCGACCTCTTCTGGGA	0.383000													11	66					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27760382	27760382	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:27760382C>A	ENST00000295743.4	-	4	1364	c.1161G>T	c.(1159-1161)atG>atT	p.M387I	EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Missense_Mutation_p.M387I|EOMES_ENST00000537516.1_Missense_Mutation_p.M92I			O95936	EOMES_HUMAN	eomesodermin	387					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GTAAGACTATCATCTGGAAAG	0.368000													9	16					0.000442599	0.000475398	1	1	0
MBL2	4153	broad.mit.edu	37	10	54528014	54528014	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:54528014C>A	ENST00000373968.3	-	4	694	c.630G>T	c.(628-630)gaG>gaT	p.E210D		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	210	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGGGTTCACCCTCGTTCCAGT	0.498000													53	141					1.83081e-24	3.25309e-24	1	1	0
KDM3B	51780	broad.mit.edu	37	5	137753188	137753188	+	Silent	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:137753188A>T	ENST00000314358.5	+	13	3524	c.3324A>T	c.(3322-3324)ggA>ggT	p.G1108G	KDM3B_ENST00000542866.1_Silent_p.G140G|KDM3B_ENST00000394866.1_Silent_p.G764G	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1108					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						ACAATATTGGAGACATGGTAC	0.398000													4	42					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4307980	4307980	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:4307980G>T	ENST00000221856.6	+	4	492	c.345_splice	c.e4+1	p.Q115_splice	FSD1_ENST00000597590.1_Splice_Site_p.Q115_splice|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	115	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTTTCCTCAGGTGGGTGCCT	0.562000													7	16					8.12818e-05	8.94655e-05	1	1	0
OR10H5	284433	broad.mit.edu	37	19	15904995	15904995	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:15904995T>A	ENST00000308940.8	+	1	235	c.137T>A	c.(136-138)aTg>aAg	p.M46K		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CTGCTCATCATGGCCACTGTC	0.592000													42	96					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21728836	21728836	+	Silent	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:21728836C>G	ENST00000261195.2	-	3	713	c.459G>C	c.(457-459)ctG>ctC	p.L153L		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	153					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCCAAATATCAGCATATCAT	0.448000													14	216					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686346	54686346	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:54686346G>A	ENST00000540264.2	-	2	1443	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.R312C|NFE2_ENST00000312156.4_Missense_Mutation_p.R312C|NFE2_ENST00000553070.1_Missense_Mutation_p.R312C			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	312	Leucine-zipper.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	p.R312S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GCCTCCCCGCGGGCCCTGAGA	0.617000													43	43					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211527875	211527875	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:211527875G>T	ENST00000233072.5	+	33	4152	c.3956G>T	c.(3955-3957)aGg>aTg	p.R1319M	CPS1_ENST00000430249.2_Missense_Mutation_p.R1325M|CPS1_ENST00000451903.2_Missense_Mutation_p.R868M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1319					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)		CCCCGGTTGAGGGATGCTGAC	0.393000													12	34					1.3612e-06	1.61244e-06	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89390203	89390203	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:89390203C>A	ENST00000336596.2	+	4	1177	c.952C>A	c.(952-954)Cca>Aca	p.P318T	EPHA3_ENST00000452448.2_Missense_Mutation_p.P318T|EPHA3_ENST00000494014.1_Missense_Mutation_p.P318T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	318	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAAAGACCCTCCATCCATGGC	0.438000										TSP Lung(6;0.00050)			20	61					3.7963e-18	6.24647e-18	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29786182	29786182	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:29786182A>T	ENST00000256062.5	-	6	1175	c.702T>A	c.(700-702)agT>agA	p.S234R	TMTC1_ENST00000381224.2_Missense_Mutation_p.S296R|TMTC1_ENST00000539277.1_Missense_Mutation_p.S342R|TMTC1_ENST00000552618.1_Missense_Mutation_p.S404R|TMTC1_ENST00000551659.1_Missense_Mutation_p.S404R|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	342						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CCAGAGGAATACTGCCGACCT	0.507000													40	70					0	0	1	0	0
NENF	29937	broad.mit.edu	37	1	212619334	212619334	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:212619334A>G	ENST00000366988.3	+	4	562	c.505A>G	c.(505-507)Aag>Gag	p.K169E	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	169						extracellular space	heme binding			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		TTTTGACATCAAGGATGAGTT	0.542000													31	66					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44771205	44771205	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:44771205C>A	ENST00000592581.1	+	4	435	c.329C>A	c.(328-330)cCc>cAc	p.P110H	ZNF233_ENST00000391958.2_Intron|ZNF233_ENST00000589522.1_Intron|ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_001207005.1	NP_001193934.1	A6NK53	ZN233_HUMAN	zinc finger protein 233	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				gcccaagaccccagaattcat	0.557000													9	10					0.000274275	0.000296825	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91134192	91134192	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:91134192A>T	ENST00000373094.1	+	2	3798	c.2953A>T	c.(2953-2955)Agt>Tgt	p.S985C	PCDH11X_ENST00000395337.2_Missense_Mutation_p.S985C|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S985C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S985C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S985C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S985C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S985C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S985C|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S985C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	985					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTCCTCAAGCAGTTCAGATCC	0.502000													22	120					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141571327	141571327	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:141571327C>A	ENST00000389484.3	-	32	6229	c.5258G>T	c.(5257-5259)gGg>gTg	p.G1753V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1753					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)		GGTTCCATTCCCTGAACTGAT	0.333000										TSP Lung(27;0.18)			5	41					1.23904e-05	1.41573e-05	1	1	0
DST	667	broad.mit.edu	37	6	56328459	56328459	+	Silent	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:56328459T>C	ENST00000370754.5	-	100	22769	c.22770A>G	c.(22768-22770)ccA>ccG	p.P7590P	DST_ENST00000244364.6_Silent_p.P4974P|DST_ENST00000370788.2_Silent_p.P5215P|DST_ENST00000446842.2_Silent_p.P7086P|DST_ENST00000421834.2_Silent_p.P5297P|DST_ENST00000370769.4_Silent_p.P7412P|DST_ENST00000361203.3_Silent_p.P7301P|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7410					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)			CTCGTGATGATGGCCGGGATC	0.587000													47	176					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272557	52272557	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:52272557A>G	ENST00000598776.1	+	2	1418	c.646A>G	c.(646-648)Att>Gtt	p.I216V	FPR2_ENST00000598953.1_Missense_Mutation_p.I216V|FPR2_ENST00000340023.6_Missense_Mutation_p.I216V	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	216					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCCGATGTCCATTGTTGCCAT	0.542000													32	29					0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247521	142247521	+	RNA	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:142247521C>A	ENST00000390361.3	-	0	94																											ACTCACCTGCCCCCAGGAGGC	0.552000													34	180					1.61788e-16	2.59263e-16	1	1	0
FAM46D	169966	broad.mit.edu	37	X	79698360	79698360	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:79698360C>A	ENST00000538312.1	+	5	656	c.322C>A	c.(322-324)Cta>Ata	p.L108I	FAM46D_ENST00000308293.5_Missense_Mutation_p.L108I	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	108										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TCTAGACTGTCTACTTGACTT	0.398000													25	8					5.45024e-15	8.52219e-15	1	1	0
DGKH	160851	broad.mit.edu	37	13	42763331	42763331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:42763331G>T	ENST00000379274.2	+	15	1819	c.1390G>T	c.(1390-1392)Ggg>Tgg	p.G464W	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.G600W|DGKH_ENST00000538674.1_Missense_Mutation_p.G355W|DGKH_ENST00000536612.1_Missense_Mutation_p.G464W|DGKH_ENST00000337343.4_Missense_Mutation_p.G600W|DGKH_ENST00000261491.4_Missense_Mutation_p.G600W			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	600					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGAGCAGCTTGGGGATGACGT	0.507000													25	47					7.87624e-14	1.19534e-13	1	1	0
TSC1	7248	broad.mit.edu	37	9	135781324	135781324	+	Silent	SNP	T	T	C	rs118203552		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:135781324T>C	ENST00000298552.3	-	15	1862	c.1641A>G	c.(1639-1641)acA>acG	p.T547T	TSC1_ENST00000545250.1_Silent_p.T496T|TSC1_ENST00000440111.2_Silent_p.T547T	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	547					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTTGCTTTGGTGTGTCAGGCC	0.582000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				14	50					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967130	52967130	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:52967130G>T	ENST00000549343.1	-	1	470	c.432C>A	c.(430-432)atC>atA	p.I144I	KRT74_ENST00000305620.2_Silent_p.I144I			Q7RTS7	K2C74_HUMAN	keratin 74	144	Coil 1A.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TCAGCACCTTGATCTGTTCCC	0.597000													34	114					5.8336e-16	9.30204e-16	1	1	0
GABRG1	2565	broad.mit.edu	37	4	46099322	46099322	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:46099322T>A	ENST00000295452.4	-	2	316	c.149A>T	c.(148-150)aAc>aTc	p.N50I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	50					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CCAGGTTTTGTTCACCGTTAA	0.343000													18	37					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287870	16287870	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr22:16287870C>G	ENST00000343518.6	-	1	67	c.16G>C	c.(16-18)Ggt>Cgt	p.G6R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	6										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GGCATTGAACCAGCCTCAGCC	0.587000													60	93					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377189	125377189	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:125377189C>A	ENST00000297913.2	+	1	242	c.173C>A	c.(172-174)cCc>cAc	p.P58H	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTCCACATCCCCATGTACATC	0.478000													70	54					1.02016e-41	1.96712e-41	1	1	0
TTC12	54970	broad.mit.edu	37	11	113196368	113196368	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:113196368G>T	ENST00000393020.1	+	6	849		c.e6+1		TTC12_ENST00000314756.3_Splice_Site|TTC12_ENST00000483239.2_Splice_Site|TTC12_ENST00000529221.1_Splice_Site			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12								binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CCGAGCCCAGGTCAGTGAGGC	0.483000													8	56					0.000673444	0.000717969	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186670169	186670169	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:186670169G>T	ENST00000343098.5	+	17	16403	c.16403G>T	c.(16402-16404)gGg>gTg	p.G5468V	FSIP2_ENST00000424728.1_Missense_Mutation_p.G5379V	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATTGCTATAGGGATGATTGCT	0.353000													7	67					1.06961e-07	1.33314e-07	1	1	0
CCDC171	203238	broad.mit.edu	37	9	15874541	15874541	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:15874541G>T	ENST00000380701.3	+	24	3808	c.3480G>T	c.(3478-3480)caG>caT	p.Q1160H	CCDC171_ENST00000297641.3_Missense_Mutation_p.Q1160H|CCDC171_ENST00000486641.2_3'UTR	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	1160																	TCAGAGATCAGATCTCGCTGT	0.522000													27	62					2.47511e-08	3.16755e-08	1	1	0
OSBPL2	9885	broad.mit.edu	37	20	60835154	60835154	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:60835154C>A	ENST00000313733.3	+	3	357	c.155C>A	c.(154-156)tCt>tAt	p.S52Y	OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Missense_Mutation_p.S40Y	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	52					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAGAGGCCCTCTCAAGAGAAC	0.438000													12	133					0.00010058	0.000110518	1	1	0
NCR2	9436	broad.mit.edu	37	6	41303884	41303884	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:41303884G>T	ENST00000373083.4	+	2	334	c.112G>T	c.(112-114)Gtg>Ttg	p.V38L	NCR2_ENST00000373089.5_Missense_Mutation_p.V38L|NCR2_ENST00000373086.3_Missense_Mutation_p.V38L	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	38	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					GACGCTAACCGTGAGATGCCA	0.552000													17	96					1.96292e-10	2.7082e-10	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94040417	94040417	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:94040417C>A	ENST00000297268.6	+	23	1772	c.1301C>A	c.(1300-1302)cCt>cAt	p.P434H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	434					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCGAGGACCTAATGGAGAT	0.493000										HNSCC(75;0.22)			3	8					0.00909568	0.0094396	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113363471	113363471	+	Silent	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:113363471A>T	ENST00000297405.5	-	40	6502	c.6258T>A	c.(6256-6258)ggT>ggA	p.G2086G	CSMD3_ENST00000352409.3_Silent_p.G2016G|CSMD3_ENST00000343508.3_Silent_p.G2046G|CSMD3_ENST00000455883.2_Silent_p.G1982G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2086	Sushi 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGAGAGTGACCCTACATAA	0.299000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	41					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744358	70744358	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:70744358A>C	ENST00000260126.3	-	2	1257	c.551T>G	c.(550-552)tTc>tGc	p.F184C	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.F184C|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.F184C|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	184						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTAGCTGACGAACACCACCAC	0.622000													20	123					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121947691	121947691	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:121947691G>T	ENST00000377069.4	-	11	1639	c.1233C>A	c.(1231-1233)ggC>ggA	p.G411G	KDM2B_ENST00000536437.1_Silent_p.G325G|KDM2B_ENST00000377071.4_Silent_p.G442G|KDM2B_ENST00000538046.2_Silent_p.G352G	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	442	Glu-rich.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTGAAGTGGAGCCATCGGTGG	0.622000													36	53					2.19358e-23	3.8552e-23	1	1	0
RCCD1	91433	broad.mit.edu	37	15	91504945	91504945	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:91504945C>A	ENST00000394258.2	+	8	1279	c.1077C>A	c.(1075-1077)gtC>gtA	p.V359V	RCCD1_ENST00000556618.1_Silent_p.V359V|RCCD1_ENST00000555155.1_Silent_p.V357V	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	359										breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			TAAAGGCTGTCACCTGTGGGC	0.507000													6	95					0.248553	0.249326	1	1	0
PLA2G12A	81579	broad.mit.edu	37	4	110635603	110635603	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:110635603C>A	ENST00000243501.5	-	4	767	c.500G>T	c.(499-501)gGt>gTt	p.G167V	PLA2G12A_ENST00000502283.1_Missense_Mutation_p.G165V	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	167					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		TGGTTTACAACCTAAATGTAT	0.413000													21	68					6.44725e-10	8.80101e-10	1	1	0
VSTM4	196740	broad.mit.edu	37	10	50315806	50315806	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:50315806C>T	ENST00000332853.3	-	2	313	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	VSTM4_ENST00000298454.3_Missense_Mutation_p.R97Q	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	97	Ig-like.					integral to membrane|plasma membrane		p.R97Q(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GCGCAGCCTCCGCCGTTTGGC	0.612000													34	102					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538751	55538751	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:55538751T>A	ENST00000220676.1	+	4	2457	c.2309T>A	c.(2308-2310)gTt>gAt	p.V770D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	770					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTCCAAGGTTCAAGGACTT	0.289000													9	28					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78277202	78277202	+	Silent	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:78277202T>C	ENST00000281038.5	-	4	864	c.489A>G	c.(487-489)acA>acG	p.T163T	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	163					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GAATAGCAGCTGTCGCTTCAC	0.383000													49	16					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125280751	125280751	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:125280751C>A	ENST00000298282.9	+	9	1066	c.795C>A	c.(793-795)gcC>gcA	p.A265A	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.A201A	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	265						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCCAGGGAGCCATCCAGATCC	0.552000													36	17					1.60099e-16	2.57194e-16	1	1	0
IRS4	8471	broad.mit.edu	37	X	107978580	107978580	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:107978580C>G	ENST00000372129.2	-	1	1071	c.995G>C	c.(994-996)tGt>tCt	p.C332S		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	332	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCGTCTGCACACAAGGCTCT	0.582000													116	56					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025979	203025979	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:203025979G>T	ENST00000367240.2	+	18	2772	c.2245G>T	c.(2245-2247)Gcc>Tcc	p.A749S	PPFIA4_ENST00000272198.6_Missense_Mutation_p.A264S|PPFIA4_ENST00000599966.1_Missense_Mutation_p.A264S|PPFIA4_ENST00000414050.2_Missense_Mutation_p.A477S|PPFIA4_ENST00000295706.4_Missense_Mutation_p.A264S|PPFIA4_ENST00000447715.2_Missense_Mutation_p.A748S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	264					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCACAAGGGCGCCAAGCGCAA	0.617000													15	53					0.00244969	0.00257547	1	1	0
MSTO1	55154	broad.mit.edu	37	1	155582963	155582963	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:155582963G>T	ENST00000245564.2	+	11	1246	c.1222G>T	c.(1222-1224)Gga>Tga	p.G408*	MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Nonsense_Mutation_p.G373*|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	408					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GGAGCCTTCTGGAACACGTTG	0.562000													120	89					9.59235e-44	1.85519e-43	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	10274211	10274211	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:10274211C>A	ENST00000396573.2	-	3	367	c.58G>T	c.(58-60)Ggt>Tgt	p.G20C	GRIN2A_ENST00000330684.3_Missense_Mutation_p.G20C|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G20C|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G20C|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G20C	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	20					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCGCCGGACCGCGCCAGACC	0.657000													17	64					2.23348e-06	2.60978e-06	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803353	185803353	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:185803353C>A	ENST00000302277.6	+	4	3824	c.3230C>A	c.(3229-3231)cCt>cAt	p.P1077H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1077						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTCCCACCCCCTAGCACACCT	0.502000													20	183					1.96292e-10	2.7082e-10	1	1	0
FBLN2	2199	broad.mit.edu	37	3	13663411	13663411	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:13663411C>G	ENST00000404922.3	+	9	2411	c.2292C>G	c.(2290-2292)tgC>tgG	p.C764W	FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000492059.1_Missense_Mutation_p.C764W|FBLN2_ENST00000295760.7_Intron	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	762	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACAGGAAGTGCGTGGGTAAGC	0.632000													6	31					0	0	1	0	0
ZCRB1	85437	broad.mit.edu	37	12	42707739	42707739	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:42707739C>A	ENST00000266529.3	-	6	566	c.383G>T	c.(382-384)cGt>cTt	p.R128L	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.R87L	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	128					mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TGGAGGCTCACGTTCTCCGAG	0.318000													11	21					7.03913e-09	9.22812e-09	1	1	0
OR5H14	403273	broad.mit.edu	37	3	97868863	97868863	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:97868863G>C	ENST00000437310.1	+	1	694	c.634G>C	c.(634-636)Ggg>Cgg	p.G212R		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTACCATAGGGACTGTTCT	0.333000													6	18					0	0	1	0	0
TRDV1	28518	broad.mit.edu	37	14	22564735	22564735	+	RNA	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:22564735C>G	ENST00000390452.2	+	0	204																											AACTTCCCAGCAAAGAGATGA	0.433000													28	61					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56499365	56499365	+	Missense_Mutation	SNP	C	C	A	rs144326157	by1000genomes	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:56499365C>A	ENST00000370754.5	-	25	3289	c.3290G>T	c.(3289-3291)cGt>cTt	p.R1097L	DST_ENST00000244364.6_Missense_Mutation_p.R593L|DST_ENST00000370788.2_Missense_Mutation_p.R919L|DST_ENST00000370765.6_Missense_Mutation_p.R593L|DST_ENST00000446842.2_Missense_Mutation_p.R593L|DST_ENST00000421834.2_Missense_Mutation_p.R919L|DST_ENST00000370769.4_Missense_Mutation_p.R919L|DST_ENST00000361203.3_Missense_Mutation_p.R919L|DST_ENST00000518935.1_Missense_Mutation_p.R593L|DST_ENST00000312431.6_Missense_Mutation_p.R919L			Q03001	DYST_HUMAN	dystonin	919					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)			CCATTTAGCACGATGAGAGTT	0.428000													10	43					2.17888e-05	2.4591e-05	1	1	0
COL2A1	1280	broad.mit.edu	37	12	48379522	48379522	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:48379522G>T	ENST00000380518.3	-	25	1833	c.1669C>A	c.(1669-1671)Cct>Act	p.P557T	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P488T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	557	Triple-helical region.				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)	CGGGCTCCAGGAAGGCCAGGT	0.652000													14	37					7.93312e-07	9.41465e-07	1	1	0
CLIP2	7461	broad.mit.edu	37	7	73814761	73814761	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:73814761C>A	ENST00000223398.6	+	15	3269	c.2942C>A	c.(2941-2943)cCc>cAc	p.P981H	CLIP2_ENST00000395060.1_Missense_Mutation_p.P981H|CLIP2_ENST00000361545.5_Missense_Mutation_p.P946H	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	981						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TCCTCGGCGCCCGAGCTTCTG	0.622000													18	51					2.35188e-11	3.34133e-11	1	1	0
ALPK2	115701	broad.mit.edu	37	18	56204234	56204234	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:56204234C>A	ENST00000361673.3	-	5	3398	c.3185G>T	c.(3184-3186)aGt>aTt	p.S1062I	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1062							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGTAGCACCACTTAAAATATG	0.517000													22	54					3.62473e-10	4.98497e-10	1	1	0
KRTAP6-3	337968	broad.mit.edu	37	21	31965082	31965082	+	Silent	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:31965082T>C	ENST00000391624.1	+	1	324	c.297T>C	c.(295-297)ttT>ttC	p.F99F		NM_181605.3	NP_853636.3			keratin associated protein 6-3											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						GCTCCAGCTTTGGCTACTACT	0.532000													3	8					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570020	248570020	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248570020C>A	ENST00000366474.1	+	1	725	c.725C>A	c.(724-726)aCa>aAa	p.T242K		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGCAGACACAGCCCTCTAC	0.498000													13	69					1.49906e-05	1.70378e-05	1	1	0
MYH4	4622	broad.mit.edu	37	17	10368836	10368836	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:10368836T>A	ENST00000255381.2	-	5	538	c.428A>T	c.(427-429)tAc>tTc	p.Y143F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	143	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTGCCTCGGTAGGCTGTCAC	0.542000													161	56					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232612	117232612	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:117232612C>A	ENST00000003084.6	+	14	2523	c.2391C>A	c.(2389-2391)gcC>gcA	p.A797A	CFTR_ENST00000454343.1_Silent_p.A736A	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	797					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)	TGTCACTGGCCCCTCAGGCAA	0.428000									Cystic Fibrosis				17	39					1.5739e-10	2.19021e-10	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	129559538	129559538	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:129559538C>T	ENST00000422113.2	-	9	2508	c.2182G>A	c.(2182-2184)Ggg>Agg	p.G728R	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G266R	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	728						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAGTCTTTCCCATCGTAAATA	0.463000													25	38					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093034	43093034	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:43093034G>T	ENST00000244336.5	-	4	961	c.860C>A	c.(859-861)cCc>cAc	p.P287H	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	287	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				AGTGATGTTGGGGATAAAGAG	0.502000													18	56					2.35188e-11	3.34133e-11	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26457657	26457657	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:26457657A>T	ENST00000265944.5	+	28	3294	c.3128A>T	c.(3127-3129)tAt>tTt	p.Y1043F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1043					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTAAGTATTATCACGTGGAG	0.358000													9	17					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520331	23520331	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:23520331G>A	ENST00000374619.1	-	1	891	c.382C>T	c.(382-384)Cat>Tat	p.H128Y	HTR1D_ENST00000314113.3_Missense_Mutation_p.H128Y	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	128					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACACAGAGATGCAGGATGGAG	0.552000													23	20					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134997465	134997465	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:134997465C>A	ENST00000304613.3	+	5	618	c.597C>A	c.(595-597)ctC>ctA	p.L199L	KNDC1_ENST00000368572.2_Silent_p.L199L|KNDC1_ENST00000368571.2_Silent_p.L134L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	199	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGAGGGTCCTCTCCATCGAGT	0.592000													23	69					5.35356e-11	7.52297e-11	1	1	0
PCF11	51585	broad.mit.edu	37	11	82878180	82878180	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:82878180G>T	ENST00000298281.4	+	6	2283	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	611					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ACAACAGGTTGATGAACATAG	0.368000													62	29					7.38948e-41	1.42275e-40	1	1	0
HMGCLL1	54511	broad.mit.edu	37	6	55300461	55300461	+	Nonstop_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:55300461C>A	ENST00000398661.2	-	10	1243	c.1112G>T	c.(1111-1113)tGa>tTa	p.*371L	HMGCLL1_ENST00000274901.4_Nonstop_Mutation_p.*341L|HMGCLL1_ENST00000508459.1_Nonstop_Mutation_p.*175L|HMGCLL1_ENST00000308161.4_Nonstop_Mutation_p.*309L|HMGCLL1_ENST00000370850.2_Nonstop_Mutation_p.*238L|HMGCLL1_ENST00000507223.1_5'UTR	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	0							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCATTCAAGTCAAGCATTGAA	0.368000													6	45					3.09899e-07	3.77854e-07	1	1	0
APC2	10297	broad.mit.edu	37	19	1462064	1462064	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:1462064C>A	ENST00000535453.1	+	13	3454	c.1741C>A	c.(1741-1743)Ctg>Atg	p.L581M	APC2_ENST00000233607.2_Missense_Mutation_p.L581M|C19orf25_ENST00000588427.1_Intron|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Missense_Mutation_p.L307M			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	581					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCTGGGCTTCCTGGTGAGCAC	0.637000													49	30					3.31993e-32	6.19784e-32	1	1	0
IGHV3-38	28429	broad.mit.edu	37	14	106866707	106866707	+	RNA	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:106866707C>A	ENST00000390618.2	-	0	124																											ACACTGGACACCTGCAAACAC	0.537000													15	225					3.27435e-08	4.14516e-08	1	1	0
CLCN4	1183	broad.mit.edu	37	X	10155566	10155566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:10155566G>T	ENST00000380833.4	+	4	547	c.156G>T	c.(154-156)aaG>aaT	p.K52N	CLCN4_ENST00000380829.1_Missense_Mutation_p.K52N|CLCN4_ENST00000421085.2_Intron	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	52						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCACCAGCAAGAGCAAGGAGT	0.507000													30	76					8.88839e-20	1.49103e-19	1	1	0
LOC647264	647264	broad.mit.edu	37	13	64321218	64321218	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:64321218G>T	ENST00000453638.2	+	1	285	c.285G>T	c.(283-285)ggG>ggT	p.G95G																	endometrium(2)|lung(1)|urinary_tract(1)	4						tcggctgtgggtatggctgtg	0.547000													25	78					3.01185e-09	3.97675e-09	1	1	0
SLC9C2	284525	broad.mit.edu	37	1	173493107	173493107	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:173493107C>A	ENST00000367714.3	-	21	3063		c.e21+1		SLC9C2_ENST00000466087.1_Splice_Site	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)						sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GGAATCTTTACCTTGAAGAAG	0.378000													8	37					3.09899e-07	3.77854e-07	1	1	0
OR9A2	135924	broad.mit.edu	37	7	142723473	142723473	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:142723473G>T	ENST00000350513.2	-	1	809	c.747C>A	c.(745-747)ggC>ggA	p.G249G		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ACAAGCAGCTGCCATAGCCAA	0.488000													26	33					3.28513e-13	4.85988e-13	1	1	0
PLB1	151056	broad.mit.edu	37	2	28752593	28752593	+	Splice_Site	SNP	A	A	T	rs142867360	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:28752593A>T	ENST00000422425.2	+	8	460		c.e8-1		PLB1_ENST00000327757.5_Splice_Site	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1						lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCTCTGCACAGAGACTTGTG	0.483000													36	18					0	0	1	0	0
OR11H1	81061	broad.mit.edu	37	22	16449080	16449080	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr22:16449080C>G	ENST00000252835.4	-	1	725	c.725G>C	c.(724-726)gGt>gCt	p.G242A		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TGAAGGCATACCCAACATAGC	0.413000													31	66					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36226021	36226021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:36226021C>A	ENST00000251195.5	-	8	1597	c.1501G>T	c.(1501-1503)Gga>Tga	p.G501*	CLSPN_ENST00000520551.1_Nonsense_Mutation_p.G501*|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.G501*|CLSPN_ENST00000318121.3_Nonsense_Mutation_p.G501*			Q9HAW4	CLSPN_HUMAN	claspin	501					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACATCTACTCCCAGTTGCTTA	0.433000													24	81					1.10513e-12	1.62742e-12	1	1	0
ACTA1	58	broad.mit.edu	37	1	229568738	229568738	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:229568738T>A	ENST00000366684.3	-	2	227	c.125A>T	c.(124-126)cAc>cTc	p.H42L	ACTA1_ENST00000366683.2_Missense_Mutation_p.H42L	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	42			H -> Y (in NEM3; severe).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	CCTGACCTGGTGTCGGGGGCG	0.721000													24	50					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758011	141758011	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:141758011C>A	ENST00000475668.2	+	31	3756	c.3702C>A	c.(3700-3702)ggC>ggA	p.G1234G	MGAM_ENST00000549489.2_Silent_p.G1234G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1234	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGTTGATTGGCCGGCCTGTGA	0.433000													35	136					3.62531e-18	5.97273e-18	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3235695	3235695	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:3235695G>T	ENST00000217939.6	-	6	6181	c.6027C>A	c.(6025-6027)acC>acA	p.T2009T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2009	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGATGGAAAGGGTCCGGTTTT	0.632000													9	23					3.32936e-07	4.04414e-07	1	1	0
PC	5091	broad.mit.edu	37	11	66638917	66638917	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:66638917C>A	ENST00000393960.1	-	6	637	c.356G>T	c.(355-357)gGg>gTg	p.G119V	PC_ENST00000524491.1_Missense_Mutation_p.G79V|PC_ENST00000393958.2_Missense_Mutation_p.G119V|PC_ENST00000393955.2_Missense_Mutation_p.G119V|PC_ENST00000355677.3_Missense_Mutation_p.G119V	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	119	Biotin carboxylation.				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)	AGAGAGGAACCCGTAGCCAGG	0.622000													17	204					1.00905e-13	1.51533e-13	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110424542	110424542	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:110424542G>T	ENST00000378402.5	+	20	2238	c.2134G>T	c.(2134-2136)Ggt>Tgt	p.G712C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	712					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)			TGCTTACTGTGGTCGTTATTC	0.353000										HNSCC(38;0.096)			18	24					2.94398e-08	3.75271e-08	1	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120322243	120322243	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:120322243G>T	ENST00000397843.2	+	22	2032	c.1866G>T	c.(1864-1866)caG>caT	p.Q622H	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Q603H|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Q519H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	622					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGGAACTACAGAAGGCGCGCC	0.507000			T	MLL	AML								7	51					1.12685e-05	1.29442e-05	1	1	0
ZNF682	91120	broad.mit.edu	37	19	20117565	20117565	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:20117565C>A	ENST00000397165.2	-	4	906	c.746G>T	c.(745-747)aGa>aTa	p.R249I	ZNF682_ENST00000358523.5_Missense_Mutation_p.R217I|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Missense_Mutation_p.R255I|ZNF682_ENST00000595736.1_Missense_Mutation_p.R173I|ZNF682_ENST00000397162.1_Missense_Mutation_p.R217I	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						AGTATGGATTCTCTTATGTTT	0.373000													12	14					0.0202918	0.0208743	1	1	0
KLHL24	54800	broad.mit.edu	37	3	183368276	183368276	+	Silent	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:183368276A>T	ENST00000454652.1	+	4	518	c.132A>T	c.(130-132)tcA>tcT	p.S44S	KLHL24_ENST00000476808.1_Silent_p.S44S|KLHL24_ENST00000242810.6_Silent_p.S44S			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	44						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ACTTCTCTTCAGGATCATCCC	0.408000													16	45					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123540	151123540	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:151123540C>T	ENST00000370328.3	-	9	1207	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	385					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCATGGGCACGGCTATTGAT	0.522000													8	9					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475596	157475596	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:157475596C>T	ENST00000389413.3	-	12	1838	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	PTPRN2_ENST00000389416.4_Missense_Mutation_p.E591K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E631K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E570K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E608K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	608						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCTTCTTGCTCCGCCTGAGGA	0.567000													23	51					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3071838	3071838	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:3071838C>T	ENST00000400569.3	-	37	5091	c.4758G>A	c.(4756-4758)gaG>gaA	p.E1586E	MYOM1_ENST00000261606.7_Silent_p.E1490E|MYOM1_ENST00000356443.4_Silent_p.E1586E			P52179	MYOM1_HUMAN	myomesin 1	1586	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTACCTTCCCCTCCTGGATGG	0.537000													3	5					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33617708	33617708	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:33617708C>A	ENST00000399362.4	-	24	2760	c.2407G>T	c.(2407-2409)Gtc>Ttc	p.V803F	CLASP2_ENST00000539981.1_Missense_Mutation_p.V573F|CLASP2_ENST00000480013.1_Missense_Mutation_p.V591F|CLASP2_ENST00000307312.7_Missense_Mutation_p.V292F|CLASP2_ENST00000468888.2_Missense_Mutation_p.V804F|CLASP2_ENST00000359576.5_Missense_Mutation_p.V803F|CLASP2_ENST00000461133.3_Missense_Mutation_p.V570F	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	804										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GTGTTCAGGACTCGCATGGCA	0.428000													8	36					1.76689e-08	2.2657e-08	1	1	0
FOXP2	93986	broad.mit.edu	37	7	114174741	114174741	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:114174741G>T	ENST00000408937.3	+	3	612	c.238G>T	c.(238-240)Gat>Tat	p.D80Y	FOXP2_ENST00000393494.2_Missense_Mutation_p.D80Y|FOXP2_ENST00000393500.3_5'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.D80Y|FOXP2_ENST00000390668.3_Missense_Mutation_p.D79Y|FOXP2_ENST00000393489.3_5'UTR|FOXP2_ENST00000360232.4_Missense_Mutation_p.D80Y|FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000393498.2_Missense_Mutation_p.D80Y|FOXP2_ENST00000378237.3_Missense_Mutation_p.D80Y|FOXP2_ENST00000403559.4_Missense_Mutation_p.D80Y	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	80	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TAAGAGCAGTGATAAACAGAG	0.388000													39	29					6.29468e-14	9.59828e-14	1	1	0
BICD1	636	broad.mit.edu	37	12	32520631	32520631	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:32520631C>G	ENST00000548411.1	+	8	2669	c.2488C>G	c.(2488-2490)Cgc>Ggc	p.R830G	BICD1_ENST00000281474.5_Missense_Mutation_p.P931R	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	0					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCCTCCGTACCGCCACAGTGC	0.478000													8	77					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50294019	50294019	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:50294019C>A	ENST00000332853.3	-	3	530	c.507G>T	c.(505-507)gaG>gaT	p.E169D		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	169						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ATGCCCAAGTCTCTTTTGTTT	0.294000													15	14					3.45872e-05	3.87641e-05	1	1	0
CARD11	84433	broad.mit.edu	37	7	2987300	2987300	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:2987300C>A	ENST00000396946.4	-	3	532	c.129G>T	c.(127-129)acG>acT	p.T43T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	43	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCAGGTAGGGCGTGAGCTTGG	0.517000			Mis		DLBCL								33	66					8.4185e-14	1.27016e-13	1	1	0
RABEP2	79874	broad.mit.edu	37	16	28922235	28922235	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:28922235C>A	ENST00000358201.4	-	7	1651	c.1063G>T	c.(1063-1065)Gcc>Tcc	p.A355S	RABEP2_ENST00000544477.1_Missense_Mutation_p.A284S|RABEP2_ENST00000357573.6_Missense_Mutation_p.A323S	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	355					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CGCTCCTGGGCCTGGCTCACG	0.662000													14	66					4.3838e-07	5.28514e-07	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247587607	247587607	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:247587607C>G	ENST00000366497.2	+	4	1642	c.862C>G	c.(862-864)Cac>Gac	p.H288D	NLRP3_ENST00000391828.3_Missense_Mutation_p.H288D|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.H288D|NLRP3_ENST00000348069.2_Missense_Mutation_p.H288D|NLRP3_ENST00000391827.2_Missense_Mutation_p.H288D|NLRP3_ENST00000366496.2_Missense_Mutation_p.H288D	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	288	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCCACCCATCCACAAGATCGT	0.552000													21	120					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124503512	124503512	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:124503512C>A	ENST00000357628.3	-	8	1036	c.438G>T	c.(436-438)ccG>ccT	p.P146P	POT1_ENST00000393329.1_Silent_p.P15P	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	146					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ATGTCCAAGACGGTGACATAT	0.428000													14	76					0.00185496	0.00196139	1	1	0
KYNU	8942	broad.mit.edu	37	2	143685303	143685303	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:143685303C>A	ENST00000264170.4	+	4	624	c.366C>A	c.(364-366)gaC>gaA	p.D122E	KYNU_ENST00000409512.1_Missense_Mutation_p.D122E|KYNU_ENST00000410015.2_Missense_Mutation_p.D122E|KYNU_ENST00000375773.2_Missense_Mutation_p.D122E	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	122					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TTATGAAGGACATTGTAGGTA	0.358000													36	32					9.8876e-21	1.6984e-20	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618420	77618420	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:77618420C>A	ENST00000521891.2	+	2	2545	c.2097C>A	c.(2095-2097)ttC>ttA	p.F699L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.F699L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.F699L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.F699L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	699						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATAAACCCTTCCGTTGTGAGG	0.493000										HNSCC(33;0.089)			21	65					1.00905e-13	1.51533e-13	1	1	0
SLCO3A1	28232	broad.mit.edu	37	15	92671681	92671681	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:92671681A>T	ENST00000318445.6	+	7	1688	c.1474A>T	c.(1474-1476)Acc>Tcc	p.T492S	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.T492S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	492	Kazal-like.				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)			AGATGGCATCACCTACCTGTC	0.567000													17	62					0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867186	5867186	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:5867186C>A	ENST00000252675.5	-	5	1113	c.551G>T	c.(550-552)tGg>tTg	p.W184L	FUT5_ENST00000588525.1_Missense_Mutation_p.W184L			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	184					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CGGCTCCAGCCAGCCGTAGGG	0.662000													16	51					4.35082e-09	5.73295e-09	1	1	0
SIK2	23235	broad.mit.edu	37	11	111573987	111573987	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:111573987C>T	ENST00000304987.3	+	7	961	c.788C>T	c.(787-789)gCc>gTc	p.A263V		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	263	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTAACCATAGCCCAAATCAAG	0.443000													10	41					0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179311997	179311997	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:179311997G>T	ENST00000367619.3	+	9	1003	c.859_splice	c.e9-1	p.S287_splice	SOAT1_ENST00000535686.1_Splice_Site_p.S23_splice|SOAT1_ENST00000539888.1_Splice_Site_p.S222_splice|SOAT1_ENST00000540564.1_Splice_Site_p.S229_splice	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	287					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CCTTTTCTAGGCACTGTTCCA	0.398000													10	42					0.00621372	0.0064957	1	1	0
FRMPD2	143162	broad.mit.edu	37	10	49393649	49393649	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:49393649G>T	ENST00000374201.3	-	18	2608	c.2306C>A	c.(2305-2307)cCg>cAg	p.P769Q	FRMPD2_ENST00000305531.3_Missense_Mutation_p.P744Q|FRMPD2_ENST00000407470.4_Missense_Mutation_p.P737Q	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	769					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTCTCGGCCCGGTTCAGCTAT	0.483000													42	21					5.20006e-24	9.18915e-24	1	1	0
OTOP1	133060	broad.mit.edu	37	4	4190596	4190596	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:4190596C>A	ENST00000296358.4	-	6	1797	c.1773G>T	c.(1771-1773)atG>atT	p.M591I		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	591					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAGAAAAAGGCATGGCCAGGT	0.478000													4	52					0.000602214	0.000644694	1	1	0
HSD17B4	3295	broad.mit.edu	37	5	118865602	118865602	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:118865602G>T	ENST00000504811.1	+	22	2040	c.1856G>T	c.(1855-1857)gGa>gTa	p.G619V	HSD17B4_ENST00000515320.1_Missense_Mutation_p.G576V|HSD17B4_ENST00000414835.2_Missense_Mutation_p.G454V|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000256216.6_Missense_Mutation_p.G594V|HSD17B4_ENST00000509514.1_Missense_Mutation_p.G332V|HSD17B4_ENST00000510025.1_Missense_Mutation_p.G570V|HSD17B4_ENST00000513628.1_Missense_Mutation_p.G457V	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	594	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CAAGAAACTGGAGACATTGTC	0.343000													5	31					1.23904e-05	1.41573e-05	1	1	0
TCEAL2	140597	broad.mit.edu	37	X	101381869	101381869	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:101381869C>A	ENST00000372780.1	+	3	286	c.67C>A	c.(67-69)Cag>Aag	p.Q23K	TCEAL2_ENST00000476749.1_3'UTR|TCEAL2_ENST00000329035.2_Missense_Mutation_p.Q23K	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CAATGAAGAACAGCCACCGCA	0.448000													6	44					5.9392e-07	7.10721e-07	1	1	0
OR2M3	127062	broad.mit.edu	37	1	248366834	248366834	+	Silent	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248366834T>C	ENST00000456743.1	+	1	503	c.465T>C	c.(463-465)gaT>gaC	p.D155D		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTCTACGGATGGAATTATTG	0.463000													59	145					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232581362	232581362	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:232581362C>A	ENST00000366630.1	-	10	3624	c.3266G>T	c.(3265-3267)cGg>cTg	p.R1089L	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1089L|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R163L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1089					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)				GCACGGCAGCCGGTCGGGCGT	0.652000													41	66					1.04594e-18	1.73204e-18	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110830259	110830259	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:110830259G>T	ENST00000375820.4	-	33	2767	c.2646C>A	c.(2644-2646)ggC>ggA	p.G882G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	882	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCCCATGACGCCCATTTCTC	0.517000													26	73					1.2476e-16	2.01175e-16	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167830267	167830267	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:167830267G>A	ENST00000367848.1	-	15	1872	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	ADCY10_ENST00000367851.4_Missense_Mutation_p.H551Y|ADCY10_ENST00000545172.1_Missense_Mutation_p.H398Y			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	551					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAAGTTTGATGGAAGCTGATC	0.328000													20	31					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7719912	7719912	+	Silent	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:7719912A>G	ENST00000572933.1	+	64	11213	c.9753A>G	c.(9751-9753)ctA>ctG	p.L3251L	DNAH2_ENST00000389173.2_Silent_p.L3251L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3251	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGAGATGCTAAAGAAACAGT	0.512000													60	35					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131639234	131639234	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:131639234G>T	ENST00000368648.3	-	14	1480	c.1408C>A	c.(1408-1410)Cag>Aag	p.Q470K	EBF3_ENST00000355311.5_Missense_Mutation_p.Q479K	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	479	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTGGACTGCTGGGGAGTACTG	0.542000													35	122					2.05212e-20	3.49239e-20	1	1	0
ZIM3	114026	broad.mit.edu	37	19	57647218	57647218	+	Missense_Mutation	SNP	C	C	A	rs147848892		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:57647218C>A	ENST00000269834.1	-	5	872	c.487G>T	c.(487-489)Gta>Tta	p.V163L		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTGTCCTACAAATTTGGAT	0.378000													27	59					9.90768e-06	1.14217e-05	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43886310	43886310	+	Silent	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:43886310A>T	ENST00000389420.3	-	6	1073	c.1074T>A	c.(1072-1074)acT>acA	p.T358T	ADAMTS20_ENST00000553158.1_Silent_p.T358T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	358	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATCATACCTAGTGATAAGAA	0.368000													7	25					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330274	51330274	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:51330274T>A	ENST00000326856.4	-	4	467	c.338A>T	c.(337-339)cAg>cTg	p.Q113L	KLK15_ENST00000596931.1_Missense_Mutation_p.Q113L|KLK15_ENST00000416184.1_Missense_Mutation_p.Q114L|KLK15_ENST00000301421.2_Missense_Mutation_p.Q114L|KLK15_ENST00000598239.1_Missense_Mutation_p.Q114L	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	114	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GCGTGCGGGCTGGACTAGGCG	0.692000													38	79					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674550	4674550	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:4674550G>A	ENST00000396952.5	+	2	1444	c.794G>A	c.(793-795)cGc>cAc	p.R265H	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGTGCATCGCTTTAGCAAG	0.502000													6	88					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400605	40400605	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:40400605A>G	ENST00000338305.6	-	2	790	c.248T>C	c.(247-249)cTg>cCg	p.L83P		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	83						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTTCCTGGACAGGGTCAGGTC	0.607000													37	60					0	0	1	0	0
PANX1	24145	broad.mit.edu	37	11	93886733	93886733	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:93886733G>A	ENST00000227638.3	+	2	643	c.258G>A	c.(256-258)gcG>gcA	p.A86A	PANX1_ENST00000436171.2_Silent_p.A86A	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	86					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATTGCTGGGCGGCTGTTCAGC	0.468000													14	74					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837888	93837888	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:93837888T>A	ENST00000315765.9	+	16	2885	c.2877T>A	c.(2875-2877)gaT>gaA	p.D959E		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	959	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGCGCACTGATGATTTTGAGG	0.358000													8	75					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	632949	632949	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:632949A>G	ENST00000321878.5	+	11	1819	c.1660A>G	c.(1660-1662)Aag>Gag	p.K554E	PIGQ_ENST00000026218.5_Missense_Mutation_p.Q533R|PIGQ_ENST00000409527.2_Missense_Mutation_p.K554E	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	0					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGCCACCCCAAGCACTCCTG	0.647000													60	104					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420390	53420390	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:53420390C>A	ENST00000377942.3	-	1	2385	c.2182G>T	c.(2182-2184)Gag>Tag	p.E728*	PCDH8_ENST00000338862.4_Nonsense_Mutation_p.E728*	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	728					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGGGAACGCTCCGGGCTTCCT	0.721000													20	26					7.45023e-12	1.07624e-11	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196227345	196227345	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:196227345C>A	ENST00000367433.5	-	25	3219	c.3118G>T	c.(3118-3120)Ggt>Tgt	p.G1040C	KCNT2_ENST00000367431.4_Missense_Mutation_p.G998C|KCNT2_ENST00000294725.8_Missense_Mutation_p.G1064C|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1064						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTAGAAAGACCCAAGTGTTTC	0.363000													8	67					0.0581538	0.0592094	1	1	0
ZNF496	84838	broad.mit.edu	37	1	247464125	247464125	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:247464125T>G	ENST00000294753.4	-	9	1924	c.1460A>C	c.(1459-1461)cAg>cCg	p.Q487P	ZNF496_ENST00000366498.2_Missense_Mutation_p.Q523P|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	487					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)			TCTGTCCGGCTGCAGGTGTAT	0.642000													20	115					0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119205687	119205687	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:119205687C>A	ENST00000295588.4	+	7	730	c.646C>A	c.(646-648)Cca>Aca	p.P216T		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	216						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TAGGACAAGTCCAGAACGAGA	0.423000													5	77					3.59834e-05	4.00851e-05	1	1	0
HLA-G	3135	broad.mit.edu	37	6	29797612	29797612	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:29797612C>A	ENST00000428701.1	+	6	1093	c.915C>A	c.(913-915)acC>acA	p.T305T	HLA-G_ENST00000360323.6_Silent_p.T305T|HLA-G_ENST00000376815.3_Silent_p.T121T|HLA-G_ENST00000376828.2_Silent_p.T310T|HLA-G_ENST00000376818.3_Silent_p.T213T	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	305	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCCTGCCCACCATCCCCATCA	0.582000													15	123					2.32078e-09	3.08005e-09	1	1	0
EXO1	9156	broad.mit.edu	37	1	242013779	242013779	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:242013779C>T	ENST00000366548.3	+	4	645	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000518483.1_Missense_Mutation_p.H18Y|EXO1_ENST00000348581.5_Missense_Mutation_p.H18Y	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	18	N-domain.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGAACCCATCCATGTGAGGAA	0.423000								Editing and processing nucleases					24	62					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156339067	156339067	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:156339067G>T	ENST00000368249.1	+	1	65	c.27G>T	c.(25-27)gcG>gcT	p.A9A	RHBG_ENST00000255013.3_5'UTR|RHBG_ENST00000368246.2_Silent_p.A9A|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000537040.1_Silent_p.A9A|RHBG_ENST00000400992.2_5'UTR	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	9					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GCCGCGCCGCGGGCCGGCGAC	0.667000													25	272					7.68411e-24	1.35417e-23	1	1	0
KNTC1	9735	broad.mit.edu	37	12	123047193	123047193	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:123047193A>T	ENST00000333479.7	+	20	1728	c.1551A>T	c.(1549-1551)agA>agT	p.R517S	KNTC1_ENST00000450485.2_Missense_Mutation_p.R480S	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	517					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGGTGCTAAGAGCTCATGCAA	0.289000													12	19					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37365451	37365451	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:37365451G>T	ENST00000361924.2	+	14	2448	c.2074G>T	c.(2074-2076)Gaa>Taa	p.E692*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E714*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	692	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATTATCTTCTGAACTGTCAGA	0.358000													11	16					5.16669e-11	7.30014e-11	1	1	0
VIP	7432	broad.mit.edu	37	6	153073373	153073373	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:153073373T>C	ENST00000367244.3	+	2	233	c.61T>C	c.(61-63)Tca>Cca	p.S21P	VIP_ENST00000367243.3_Missense_Mutation_p.S21P	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	21					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TGTGCTCTTCTCACAGACTTC	0.473000													24	46					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40057153	40057153	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr22:40057153C>G	ENST00000336649.4	+	19	2757	c.2757C>G	c.(2755-2757)caC>caG	p.H919Q	CACNA1I_ENST00000407673.1_Missense_Mutation_p.H878Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.H878Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.H878Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.H913Q|CACNA1I_ENST00000402142.3_Missense_Mutation_p.H913Q			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	913					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCAATGGGCACCTGGACCCCA	0.652000													9	23					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74524932	74524932	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:74524932C>T	ENST00000422840.2	-	8	1415	c.1416G>A	c.(1414-1416)gaG>gaA	p.E472E	GLG1_ENST00000205061.5_Silent_p.E472E|GLG1_ENST00000447066.2_Silent_p.E461E	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	472						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GGTTCCCCTTCTCCCCTCGAA	0.488000													23	59					0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90492045	90492045	+	Splice_Site	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:90492045G>C	ENST00000404190.1	+	4	532		c.e4+1			NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K						lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		ACCACCATAGGTGTGTTTGGG	0.408000													15	74					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4529105	4529105	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:4529105G>A	ENST00000381848.3	-	5	580	c.500C>T	c.(499-501)cCc>cTc	p.P167L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	167						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CTCCGTCATGGGCAGGAAGTG	0.612000													62	126					0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26979758	26979758	+	Silent	SNP	C	C	A	rs146076589		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:26979758C>A	ENST00000307301.7	-	1	71	c.30G>T	c.(28-30)gcG>gcT	p.A10A	MRPL39_ENST00000352957.4_Silent_p.A10A	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	10						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						AGAGCCGCAGCGCCCGGGAAC	0.657000											OREG0026146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	21					3.27435e-08	4.14516e-08	1	1	0
MED13L	23389	broad.mit.edu	37	12	116452972	116452972	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:116452972G>A	ENST00000281928.3	-	8	1323	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	373					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATATGATTGTGGAGTTTTGGA	0.458000													38	53					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676230	37676230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:37676230G>A	ENST00000532828.2	-	5	2460	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	ZNF585B_ENST00000312908.5_Nonsense_Mutation_p.Q325*|ZNF585B_ENST00000531805.1_Nonsense_Mutation_p.Q682*|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGTTGTCTGATGTTTATTC	0.483000													12	71					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41386972	41386972	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:41386972A>C	ENST00000551295.2	+	17	2131	c.2014A>C	c.(2014-2016)Atc>Ctc	p.I672L	CNTN1_ENST00000347616.1_Missense_Mutation_p.I672L|CNTN1_ENST00000348761.2_Missense_Mutation_p.I661L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	672	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGTGGACTTAATCCCATGGAT	0.408000													18	56					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917556	97917556	+	RNA	SNP	G	G	T	rs41291602	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:97917556G>T	ENST00000534948.1	+	0	2334							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GGACACTAATGGATTTTTAAC	0.403000													49	23					7.05377e-20	1.19102e-19	1	1	0
OR52E8	390079	broad.mit.edu	37	11	5878912	5878912	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:5878912C>A	ENST00000537935.1	-	1	52	c.21G>T	c.(19-21)acG>acT	p.T7T	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGATTAGACGTAGACATTC	0.418000													41	27					9.39024e-22	1.63253e-21	1	1	0
PCNX	22990	broad.mit.edu	37	14	71575643	71575643	+	Silent	SNP	C	C	A	rs143226565	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:71575643C>A	ENST00000304743.2	+	34	7070	c.6624C>A	c.(6622-6624)ctC>ctA	p.L2208L	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Silent_p.L2136L|PCNX_ENST00000439984.3_Silent_p.L2097L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2208						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATCACACTCTCGTGGGCTTTC	0.587000													37	80					1.03484e-13	1.54865e-13	1	1	0
TECTA	7007	broad.mit.edu	37	11	121028872	121028872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:121028872C>A	ENST00000392793.1	+	14	4899	c.4628C>A	c.(4627-4629)tCg>tAg	p.S1543*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.S1543*			O75443	TECTA_HUMAN	tectorin alpha	1543	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCATCATTTCGCCCGTCTAC	0.542000													23	103					5.45024e-15	8.52219e-15	1	1	0
FLG	2312	broad.mit.edu	37	1	152281402	152281402	+	Missense_Mutation	SNP	C	C	A	rs150720370		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:152281402C>A	ENST00000368799.1	-	3	5995	c.5960G>T	c.(5959-5961)cGt>cTt	p.R1987L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1987	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1987H(1)		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)			AGCCTGTCCACGAGAGGAAGA	0.572000									Ichthyosis				204	349					3.27855e-105	6.46687e-105	1	1	0
ARSD	414	broad.mit.edu	37	X	2840004	2840004	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:2840004C>T	ENST00000381154.1	-	3	331	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	86						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGAGCGGGGCGGCCGCCAGG	0.547000													10	25					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24046812	24046812	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:24046812G>T	ENST00000303531.7	+	5	625	c.473G>T	c.(472-474)cGc>cTc	p.R158L	PRKCB_ENST00000321728.7_Missense_Mutation_p.R158L	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	158					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.R158L(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CACACGGAGCGCCGCGGCCGC	0.627000													25	67					2.41591e-17	3.93501e-17	1	1	0
SLC6A2	6530	broad.mit.edu	37	16	55725959	55725959	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:55725959G>T	ENST00000379906.2	+	5	1168	c.913G>T	c.(913-915)Gcc>Tcc	p.A305S	SLC6A2_ENST00000567238.1_Missense_Mutation_p.A200S|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A305S|SLC6A2_ENST00000566163.1_Intron|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A305S|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A305S|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A305S	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	305					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTGAAAGAGGCCACGGTCAG	0.577000													14	58					1.5842e-08	2.04362e-08	1	1	0
LRFN1	57622	broad.mit.edu	37	19	39804612	39804612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:39804612C>A	ENST00000248668.4	-	1	1364	c.1365G>T	c.(1363-1365)caG>caT	p.Q455H		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	455	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-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;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTACTGAACCTGGTACATGC	0.657000													35	33					1.26612e-14	1.95838e-14	1	1	0
KIAA1551	55196	broad.mit.edu	37	12	32135230	32135230	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:32135230A>T	ENST00000312561.4	+	4	1755	c.1341A>T	c.(1339-1341)caA>caT	p.Q447H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CTCTAAAACAAACTGCCAAAA	0.363000													13	75					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102303144	102303144	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:102303144G>T	ENST00000561463.1	+	0	11190																											GCACTAGCGTGGGAACGAGAA	0.597000													5	20					8.12818e-05	8.94655e-05	1	1	0
TCEAL5	340543	broad.mit.edu	37	X	102528881	102528881	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:102528881G>C	ENST00000372680.1	-	3	905	c.611C>G	c.(610-612)cCa>cGa	p.P204R		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						ttaaacatATGGGACATCTTC	0.502000													16	45					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145187465	145187465	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:145187465G>T	ENST00000558170.2	-	3	1386	c.202C>A	c.(202-204)Cat>Aat	p.H68N	ZEB2_ENST00000303660.4_Missense_Mutation_p.H68N|ZEB2_ENST00000409487.3_Missense_Mutation_p.H68N|ZEB2_ENST00000539609.3_Missense_Mutation_p.H68N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	68						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGGACTCATGGTTGGGCACA	0.527000													60	38					1.53122e-18	2.5324e-18	1	1	0
ADARB1	104	broad.mit.edu	37	21	46624505	46624505	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:46624505G>T	ENST00000539173.1	+	10	2156	c.1721G>T	c.(1720-1722)aGc>aTc	p.S574I	ADARB1_ENST00000348831.4_Missense_Mutation_p.S534I|ADARB1_ENST00000389863.4_Missense_Mutation_p.S574I|ADARB1_ENST00000360697.3_Missense_Mutation_p.S574I|ADARB1_ENST00000437626.1_3'UTR	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	574	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TCCCTGCTCAGCATTTTCGTG	0.577000													27	42					0.000117367	0.000128854	1	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140740526	140740526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:140740526C>A	ENST00000522605.1	+	1	824	c.824C>A	c.(823-825)gCa>gAa	p.A275E	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATAAACGCAGAGATCACC	0.478000													14	24					9.31168e-06	1.07442e-05	1	1	0
RPS6KL1	83694	broad.mit.edu	37	14	75376450	75376450	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:75376450G>A	ENST00000555647.1	-	8	1353	c.1066C>T	c.(1066-1068)Cta>Tta	p.L356L	RPS6KL1_ENST00000354625.2_Silent_p.L325L|RPS6KL1_ENST00000358328.4_Silent_p.L356L|RPS6KL1_ENST00000557413.1_Silent_p.L356L			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	356	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CAGCCCCCTAGCACCGGGCCG	0.692000													10	64					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137701052	137701052	+	Silent	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:137701052A>T	ENST00000371817.3	+	43	3804	c.3390A>T	c.(3388-3390)ccA>ccT	p.P1130P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1130	Triple-helical region.				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)		CACAAGGCCCAGCTGGCCGAG	0.607000													7	11					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15628644	15628644	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:15628644C>T	ENST00000378076.3	-	23	2664	c.2311G>A	c.(2311-2313)Gac>Aac	p.D771N		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	771					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAATTGCTGTCTGGATTGTCC	0.358000													10	8					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081243	152081243	+	Missense_Mutation	SNP	C	C	G	rs71582212		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:152081243C>G	ENST00000368804.1	-	2	4449	c.4450G>C	c.(4450-4452)Gac>Cac	p.D1484H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1484	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATTTTCTGTCACGCTCTTGG	0.552000													57	227					0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27056257	27056257	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:27056257C>G	ENST00000480456.1	+	2	680	c.130C>G	c.(130-132)Caa>Gaa	p.Q44E	JAM2_ENST00000312957.5_Missense_Mutation_p.Q44E|JAM2_ENST00000400532.1_Missense_Mutation_p.Q44E|JAM2_ENST00000425221.2_Missense_Mutation_p.Q44E	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	44	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGTAGAGTACCAAGGTACAGT	0.368000													4	10					0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567426	5567426	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:5567426C>A	ENST00000315238.1	+	1	503	c.378C>A	c.(376-378)atC>atA	p.I126I	CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	126	EF-hand 4.						calcium ion binding			endometrium(3)|lung(2)	5						ACGAGATGATCCGGGCCGCGG	0.662000													31	33					1.06647e-15	1.69219e-15	1	1	0
NR2F1	7025	broad.mit.edu	37	5	92923753	92923753	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:92923753C>T	ENST00000327111.3	+	2	2281	c.594C>T	c.(592-594)taC>taT	p.Y198Y		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	198					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CCGAGCCCTACCCCACGTCGC	0.657000													26	94					0	0	1	0	0
GJB3	2707	broad.mit.edu	37	1	35250747	35250747	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:35250747G>T	ENST00000373366.2	+	2	999	c.384G>T	c.(382-384)tgG>tgT	p.W128C	GJB3_ENST00000373362.3_Missense_Mutation_p.W128C|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	128					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GAGGCCTGTGGTGGACCTACC	0.602000													73	104					1.63007e-36	3.10147e-36	1	1	0
BRAP	8315	broad.mit.edu	37	12	112093415	112093415	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:112093415G>A	ENST00000419234.4	-	10	1459	c.1266C>T	c.(1264-1266)taC>taT	p.Y422Y	BRAP_ENST00000327551.6_Silent_p.Y392Y|BRAP_ENST00000539060.1_Silent_p.Y243Y	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	422					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TGTTTTCCCAGTAGATTCGCT	0.423000													13	57					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67047172	67047172	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:67047172C>A	ENST00000340001.4	-	2	307	c.96_splice	c.e2+1	p.L32_splice	ABCA9_ENST00000453985.2_Splice_Site_p.L32_splice|ABCA9_ENST00000370732.2_Splice_Site_p.L32_splice|ABCA9_ENST00000495634.1_Splice_Site_p.L32_splice	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	32					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGAAGCATACCAACAAGGTCT	0.363000													5	33					0.014758	0.0151938	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720761	140720761	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:140720761G>T	ENST00000394576.2	+	1	2223	c.2223G>T	c.(2221-2223)gtG>gtT	p.V741V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCACTTTGTGGGCGTGGACG	0.627000													24	131					1.96895e-08	2.52229e-08	1	1	0
OR2M4	26245	broad.mit.edu	37	1	248402454	248402454	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248402454G>T	ENST00000306687.1	+	1	224	c.224G>T	c.(223-225)tGc>tTc	p.C75F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGCTCATCTGCACCACTCTA	0.458000													44	86					2.35958e-20	4.00508e-20	1	1	0
UGT1A1	54658	broad.mit.edu	37	2	234669600	234669600	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:234669600T>C	ENST00000360418.3	+	1	667	c.667T>C	c.(667-669)Tgc>Cgc	p.C223R	UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.C223R|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron			P22309	UD11_HUMAN		223					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GAACTTTCTGTGCGACGTGGT	0.507000													36	100					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27243976	27243976	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:27243976C>G	ENST00000429845.2	-	25	2525	c.2163G>C	c.(2161-2163)caG>caC	p.Q721H	NEK10_ENST00000383770.3_Missense_Mutation_p.Q33H|NEK10_ENST00000357467.2_Missense_Mutation_p.Q118H|NEK10_ENST00000295720.6_Missense_Mutation_p.Q33H|NEK10_ENST00000383771.4_Missense_Mutation_p.Q33H			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	721							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGTCGCCATCTGATAAAGGA	0.483000													4	36					0	0	1	0	0
FGFR1OP2	26127	broad.mit.edu	37	12	27107189	27107189	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:27107189C>A	ENST00000229395.3	+	2	440	c.98C>A	c.(97-99)aCc>aAc	p.T33N	FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.T33N|FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.T33N	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	33						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					ATTGAGCAAACCACAGCTCTC	0.393000													22	62					5.35356e-11	7.52297e-11	1	1	0
EZH1	2145	broad.mit.edu	37	17	40857175	40857175	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:40857175C>T	ENST00000428826.2	-	17	1987	c.1866G>A	c.(1864-1866)gtG>gtA	p.V622V	EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000592743.1_Silent_p.V622V|EZH1_ENST00000435174.1_Silent_p.V483V|EZH1_ENST00000415827.2_Silent_p.V613V|EZH1_ENST00000590078.1_Silent_p.V552V|EZH1_ENST00000585893.1_Silent_p.V582V			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	622	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCCATCCGGCCACATCAGAGG	0.532000													23	74					0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153073374	153073374	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:153073374C>T	ENST00000367244.3	+	2	234	c.62C>T	c.(61-63)tCa>tTa	p.S21L	VIP_ENST00000367243.3_Missense_Mutation_p.S21L	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	21					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GTGCTCTTCTCACAGACTTCG	0.468000													23	47					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072842	17072842	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr22:17072842G>A	ENST00000359963.3	-	1	858	c.599C>T	c.(598-600)cCt>cTt	p.P200L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	200					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AACACGCTCAGGCTTGAAGCT	0.612000													31	84					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092785	101092785	+	Silent	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:101092785A>G	ENST00000537026.1	-	14	1247	c.888T>C	c.(886-888)gaT>gaC	p.D296D	NXF5_ENST00000473265.2_Silent_p.D296D|NXF5_ENST00000361708.2_Silent_p.D296D	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	296	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TATTCCTGCTATCCTTGAAGT	0.502000													72	29					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624249	32624249	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:32624249G>T	ENST00000286827.3	-	6	1691	c.1220C>A	c.(1219-1221)gCg>gAg	p.A407E	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.A407E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	407					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCGCTGTGCGCCGAGCCGGC	0.701000													39	68					2.75727e-19	4.6014e-19	1	1	0
LARGE	9215	broad.mit.edu	37	22	33673101	33673101	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr22:33673101C>A	ENST00000354992.2	-	15	2589	c.2018G>T	c.(2017-2019)aGg>aTg	p.R673M	LARGE_ENST00000397394.2_Missense_Mutation_p.R673M|LARGE_ENST00000337431.2_Missense_Mutation_p.R621M|LARGE_ENST00000452586.2_Missense_Mutation_p.R472M|LARGE_ENST00000402320.1_Missense_Mutation_p.R621M|LARGE_ENST00000437602.2_Missense_Mutation_p.R624M	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	673					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCCTACAAACCTCCGGTCGTA	0.582000													23	63					1.64293e-13	2.44733e-13	1	1	0
WFS1	7466	broad.mit.edu	37	4	6304141	6304141	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:6304141C>T	ENST00000226760.1	+	8	2789	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	WFS1_ENST00000503569.1_Silent_p.G873G	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	873					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGTGCATGGCGCCGTGAAGT	0.617000													20	44					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129088	248129088	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:248129088G>T	ENST00000366480.3	+	1	554	c.455G>T	c.(454-456)aGc>aTc	p.S152I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGCTTATGAGCAAGAAGATC	0.433000													43	131					2.54651e-27	4.65957e-27	1	1	0
C10orf88	80007	broad.mit.edu	37	10	124697663	124697663	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:124697663T>C	ENST00000481909.1	-	5	885	c.661A>G	c.(661-663)Att>Gtt	p.I221V	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	221										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TGCTCTCCAATGGGAATACAA	0.383000													27	43					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101068576	101068576	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:101068576G>A	ENST00000259455.2	-	15	2515	c.2056C>T	c.(2056-2058)Ctc>Ttc	p.L686F		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	686					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTGTCGTTGAGTGCGGGGATG	0.552000													20	21					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24950784	24950784	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:24950784G>A	ENST00000289968.6	-	17	1694	c.1625C>T	c.(1624-1626)cCc>cTc	p.P542L	ARHGAP17_ENST00000303665.5_Intron|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	542	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTGGGGAGGGGGCTCTGGGCC	0.677000													8	18					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103349830	103349830	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:103349830G>A	ENST00000375735.2	+	89	12917	c.12773G>A	c.(12772-12774)tGt>tAt	p.C4258Y	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.C871Y|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.C4265Y	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4258				C -> R (in Ref. 3; BAB13905).	cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAGGATGCATGTGGTCCATAT	0.348000													11	29					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34233609	34233609	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:34233609G>T	ENST00000587132.1	-	0	4418																											TATTGGAGAGGGGTTCTCATC	0.542000													20	23					1.96292e-10	2.7082e-10	1	1	0
KIAA1755	85449	broad.mit.edu	37	20	36848065	36848065	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:36848065G>A	ENST00000279024.4	-	11	2794	c.2523C>T	c.(2521-2523)gtC>gtT	p.V841V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	841										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCCCAGGCGGACACGGAGCT	0.622000													30	162					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47583986	47583986	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:47583986G>T	ENST00000273859.3	+	21	3927	c.3658G>T	c.(3658-3660)Ggc>Tgc	p.G1220C	ATP10D_ENST00000512393.1_3'UTR	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1220					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GACCTACCAGGGCTCAGATAC	0.463000													18	54					8.00594e-06	9.26248e-06	1	1	0
SMCR8	140775	broad.mit.edu	37	17	18226354	18226354	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:18226354C>T	ENST00000406438.3	+	2	3264	c.2784C>T	c.(2782-2784)gaC>gaT	p.D928D		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	928										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCAGGTTTGACTATGTCCCCA	0.542000													39	23					0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94731122	94731122	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:94731122A>T	ENST00000335080.5	+	3	1418	c.586A>T	c.(586-588)Atg>Ttg	p.M196L	KDM4D_ENST00000536741.1_Missense_Mutation_p.M196L	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	196	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			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TACAGAGGACATGGACCTTTA	0.532000													14	158					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732403	152732403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:152732403C>A	ENST00000368773.1	+	2	397	c.339C>A	c.(337-339)tgC>tgA	p.C113*	KPRP_ENST00000606109.1_Nonsense_Mutation_p.C113*	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	113	Gln-rich.		C -> R (in dbSNP:rs16834457).			cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGCTCCATGCCAATCTGAGG	0.502000													119	171					9.6197e-41	1.84939e-40	1	1	0
TTN	7273	broad.mit.edu	37	2	179629513	179629513	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:179629513C>T	ENST00000589042.1	-	42	9953	c.9729G>A	c.(9727-9729)caG>caA	p.Q3243Q	TTN_ENST00000342175.6_Silent_p.Q3197Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.Q3197Q|TTN_ENST00000360870.5_Silent_p.Q3243Q|TTN_ENST00000342992.6_Silent_p.Q3243Q|TTN_ENST00000591111.1_Silent_p.Q3243Q|TTN_ENST00000359218.5_Silent_p.Q3197Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2973	Ig-like 19.						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)			GCTGGAGCTCCTGCAGAACTT	0.488000													21	130					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124378224	124378224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:124378224G>T	ENST00000360013.3	+	43	6260	c.6133G>T	c.(6133-6135)Gag>Tag	p.E2045*	KALRN_ENST00000459915.1_Nonsense_Mutation_p.E137*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.E316*|KALRN_ENST00000393496.1_Nonsense_Mutation_p.E386*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.E348*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2044	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGTAAAACAGGAGATAAATCA	0.448000													16	51					4.14922e-12	6.03437e-12	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76495944	76495944	+	Silent	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:76495944T>A	ENST00000307431.8	+	10	1807	c.1422T>A	c.(1420-1422)tcT>tcA	p.S474S	CNTNAP4_ENST00000377504.4_Silent_p.S426S|CNTNAP4_ENST00000476707.1_Silent_p.S478S|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.S402S	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	475	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGATGGCTTCTGCTGCTCCTC	0.483000													16	37					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120300040	120300040	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:120300040G>T	ENST00000369406.3	-	5	921	c.872C>A	c.(871-873)aCc>aAc	p.T291N	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.T249N	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	291					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		ATCGTCAAGGGTGAAGGGTCG	0.512000													13	34					6.31663e-08	7.92651e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179664283	179664283	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:179664283G>T	ENST00000589042.1	-	6	1069	c.845C>A	c.(844-846)tCc>tAc	p.S282Y	TTN_ENST00000342175.6_Missense_Mutation_p.S282Y|TTN_ENST00000460472.2_Missense_Mutation_p.S282Y|TTN_ENST00000360870.5_Missense_Mutation_p.S282Y|TTN_ENST00000342992.6_Missense_Mutation_p.S282Y|TTN_ENST00000591111.1_Missense_Mutation_p.S282Y|TTN_ENST00000359218.5_Missense_Mutation_p.S282Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	282	ZIS1.						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)			GGGCGATGGGGACTGCTGCCG	0.572000													14	89					7.93312e-07	9.41465e-07	1	1	0
HS3ST4	9951	broad.mit.edu	37	16	25704227	25704227	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:25704227G>C	ENST00000331351.5	+	1	881	c.489G>C	c.(487-489)gaG>gaC	p.E163D		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	163					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAGCGCAGGAGTCCAGCACCA	0.731000													4	14					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227843428	227843428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:227843428G>T	ENST00000343776.4	+	4	1822	c.1477G>T	c.(1477-1479)Gaa>Taa	p.E493*	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.E548*			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	548					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CAAATGTAAAGAATGTGGAAA	0.358000													4	36					0.150653	0.152187	1	1	0
DPP6	1804	broad.mit.edu	37	7	154379721	154379721	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:154379721C>T	ENST00000406326.1	+	6	1392	c.989C>T	c.(988-990)gCa>gTa	p.A330V	DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000377770.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	24					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGTGTGAGGCATCGCATCTG	0.612000													17	113					0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28477077	28477077	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:28477077G>A	ENST00000373857.3	-	2	1090	c.456C>T	c.(454-456)ttC>ttT	p.F152F	PTAFR_ENST00000305392.3_Silent_p.F152F|PTAFR_ENST00000539896.1_Silent_p.F152F	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	152					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGATGAGGAAGTAGGATG	0.577000													30	30					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96213016	96213016	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:96213016G>T	ENST00000324765.8	+	16	2151	c.1804G>T	c.(1804-1806)Gga>Tga	p.G602*	DIAPH2_ENST00000373049.4_Nonsense_Mutation_p.G602*|DIAPH2_ENST00000355827.4_Nonsense_Mutation_p.G602*|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.G598*|DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.G602*			O60879	DIAP2_HUMAN	diaphanous-related formin 2	602	FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTTATTTGGGGGACCTCCTCC	0.522000													33	6					1.45844e-13	2.18005e-13	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49559312	49559312	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:49559312C>A	ENST00000561648.1	-	6	3724	c.3671G>T	c.(3670-3672)gGc>gTc	p.G1224V	ZNF423_ENST00000562871.1_Missense_Mutation_p.G1164V|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1107V|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1164V|ZNF423_ENST00000535559.1_Missense_Mutation_p.G1107V|ZNF423_ENST00000262383.2_Missense_Mutation_p.G1224V|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1164V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1224					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCCGCCCATGCCCTCGAAGCT	0.572000													17	38					3.45872e-05	3.87641e-05	1	1	0
PSD3	23362	broad.mit.edu	37	8	18393415	18393415	+	Silent	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:18393415T>C	ENST00000440756.2	-	16	3090	c.2988A>G	c.(2986-2988)ctA>ctG	p.L996L	PSD3_ENST00000327040.8_Silent_p.L994L|PSD3_ENST00000286485.8_Silent_p.L460L|PSD3_ENST00000523619.1_Silent_p.L929L|PSD3_ENST00000428502.2_Silent_p.L323L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	995					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CGTTACTCAGTAGCTCTTTGC	0.473000													17	66					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530708	110530708	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:110530708C>T	ENST00000378402.5	+	73	12106	c.12002C>T	c.(12001-12003)cCt>cTt	p.P4001L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4001					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)			GGAGACCCTCCTATTCAGTTC	0.398000										HNSCC(38;0.096)			6	20					0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153275019	153275019	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:153275019G>C	ENST00000290722.1	-	5	646	c.594C>G	c.(592-594)aaC>aaG	p.N198K		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	198					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTGGGAGGTTCATTTTAG	0.473000													13	65					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102791747	102791747	+	Silent	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:102791747A>T	ENST00000504592.1	+	9	1222	c.804A>T	c.(802-804)gcA>gcT	p.A268A	BANK1_ENST00000508653.1_Silent_p.A150A|BANK1_ENST00000444316.2_Silent_p.A253A|BANK1_ENST00000428908.1_Silent_p.A150A|BANK1_ENST00000322953.4_Silent_p.A283A			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	283	DBB.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ACCCAACAGCAAAGGCAAAGG	0.388000													19	24					0	0	1	0	0
MIRLET7E	406887	broad.mit.edu	37	19	52196204	52196204	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:52196204G>T	ENST00000602324.1	-	0	505					NR_029482.1|NR_029693.1																						CAGGGACCCTGGGAGGAAGAG	0.652000													14	14					7.93312e-07	9.41465e-07	1	1	0
C1orf94	84970	broad.mit.edu	37	1	34677958	34677958	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:34677958C>A	ENST00000488417.1	+	6	1792	c.1672C>A	c.(1672-1674)Ccc>Acc	p.P558T	C1orf94_ENST00000373374.3_Missense_Mutation_p.P368T	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	368							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCGAGACCCTCCCCTAATGGC	0.557000													15	61					1.49906e-05	1.70378e-05	1	1	0
DCLK3	85443	broad.mit.edu	37	3	36756825	36756825	+	Silent	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:36756825T>C	ENST00000416516.2	-	5	2431	c.1941A>G	c.(1939-1941)gtA>gtG	p.V647V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	647						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTGACTATGATACCTGCTCCA	0.507000													8	18					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33876762	33876762	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:33876762C>A	ENST00000374408.3	-	2	610		c.e2-1			NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C											central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGCCACCACCTGGGTGGGGG	0.612000													36	71					3.33393e-15	5.25767e-15	1	1	0
ANO4	121601	broad.mit.edu	37	12	101491437	101491437	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:101491437G>A	ENST00000392979.3	+	19	2115	c.1754G>A	c.(1753-1755)gGa>gAa	p.G585E	ANO4_ENST00000392977.3_Missense_Mutation_p.G620E|ANO4_ENST00000550015.1_Missense_Mutation_p.G140E|ANO4_ENST00000299222.9_Missense_Mutation_p.G140E	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	620						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGATTTACAGGACACCCAGGT	0.423000										HNSCC(74;0.22)			7	35					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36113570	36113570	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:36113570G>T	ENST00000203166.5	+	18	1744	c.1719G>T	c.(1717-1719)agG>agT	p.R573S	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	573					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CTCTGAAGAGGCTGGAGAAGC	0.582000													8	46					5.18039e-06	6.00963e-06	1	1	0
ADD2	119	broad.mit.edu	37	2	70931505	70931505	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:70931505G>T	ENST00000264436.3	-	4	714	c.270C>A	c.(268-270)atC>atA	p.I90I	ADD2_ENST00000355733.3_Silent_p.I90I|ADD2_ENST00000407644.2_Silent_p.I90I|ADD2_ENST00000430656.1_Silent_p.I106I|ADD2_ENST00000413157.2_Silent_p.I90I	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	90					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGAAGTCCGCGATCTGTCGCA	0.602000													31	87					3.76114e-14	5.74866e-14	1	1	0
BPIFB1	92747	broad.mit.edu	37	20	31889128	31889128	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:31889128G>T	ENST00000253354.1	+	9	998	c.837G>T	c.(835-837)ccG>ccT	p.P279P	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	279						extracellular space	lipid binding										ACAACATCCCGTTCAGCCTCA	0.527000													54	107					5.22555e-25	9.33652e-25	1	1	0
UCHL5	51377	broad.mit.edu	37	1	192998369	192998369	+	Missense_Mutation	SNP	C	C	G	rs139595729	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:192998369C>G	ENST00000367452.4	-	6	903	c.133G>C	c.(133-135)Gtt>Ctt	p.V45L	UCHL5_ENST00000367448.1_Missense_Mutation_p.V169L|UCHL5_ENST00000530098.2_Missense_Mutation_p.V45L|UCHL5_ENST00000367455.3_Missense_Mutation_p.V169L|UCHL5_ENST00000367449.1_Missense_Mutation_p.V169L|UCHL5_ENST00000367454.1_Missense_Mutation_p.V169L|UCHL5_ENST00000367451.4_Missense_Mutation_p.V169L			Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	169					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TTAACAGGAACATAACTGACA	0.343000													15	42					0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21871551	21871551	+	Silent	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:21871551A>G	ENST00000365779.2	+	5	681	c.600A>G	c.(598-600)gcA>gcG	p.A200A	MBTPS2_ENST00000379484.5_Silent_p.A200A|MBTPS2_ENST00000465888.1_3'UTR			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	200					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						ATCCTGGAGCATTTGTTGATC	0.328000													14	30					0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64173754	64173754	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:64173754G>T	ENST00000261234.6	+	1	172	c.14G>T	c.(13-15)cGg>cTg	p.R5L	RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	5						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CGGCTGACGCGGAAGCGGCTC	0.682000													30	44					1.88708e-17	3.08535e-17	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247597511	247597511	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:247597511G>T	ENST00000366497.2	+	6	3214	c.2434G>T	c.(2434-2436)Gac>Tac	p.D812Y	NLRP3_ENST00000391828.3_Missense_Mutation_p.D812Y|NLRP3_ENST00000336119.3_Missense_Mutation_p.D812Y|NLRP3_ENST00000348069.2_Missense_Mutation_p.D755Y|NLRP3_ENST00000391827.2_Missense_Mutation_p.D755Y|NLRP3_ENST00000366496.2_Missense_Mutation_p.D812Y	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	869					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGCCCTCGGTGACTTCGGAAT	0.567000													63	100					8.72158e-25	1.55613e-24	1	1	0
USH2A	7399	broad.mit.edu	37	1	216373398	216373398	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:216373398T>A	ENST00000366943.2	-	17	3768	c.3382A>T	c.(3382-3384)Acc>Tcc	p.T1128S	USH2A_ENST00000366942.3_Missense_Mutation_p.T1128S|USH2A_ENST00000307340.3_Missense_Mutation_p.T1128S|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1128	Fibronectin type-III 1.				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)		TGCACATTGGTGGTCTCAATG	0.358000										HNSCC(13;0.011)			9	74					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088896	86088896	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:86088896G>T	ENST00000330753.4	+	2	1805	c.1038G>T	c.(1036-1038)cgG>cgT	p.R346R	FLRT2_ENST00000554746.1_Silent_p.R346R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	346	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AACAAGTCCGGGGGATGGCCG	0.517000													108	117					5.40725e-42	1.04421e-41	1	1	0
SPP1	6696	broad.mit.edu	37	4	88901546	88901546	+	Splice_Site	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:88901546A>C	ENST00000395080.3	+	5	303	c.174_splice	c.e5-1	p.N59_splice	SPP1_ENST00000237623.7_Intron|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Splice_Site_p.N32_splice	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	59					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CTTCTTCAGAATGCTGTGTCC	0.383000													11	16					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217955535	217955535	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:217955535C>G	ENST00000366933.4	+	8	798	c.743C>G	c.(742-744)aCc>aGc	p.T248S	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	248						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CGAGATATCACCGAAGTATTA	0.458000													27	46					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41862464	41862464	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:41862464G>A	ENST00000263798.3	+	11	1633	c.1409G>A	c.(1408-1410)cGg>cAg	p.R470Q	TYRO3_ENST00000559066.1_Missense_Mutation_p.R425Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	470						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTCATGGCCCGGGGAGAGCCA	0.587000													41	156					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120364	94120364	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:94120364C>A	ENST00000369303.4	-	3	871	c.687G>T	c.(685-687)gaG>gaT	p.E229D	EPHA7_ENST00000369297.1_Missense_Mutation_p.E229D	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	229	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCCCTCGAACCTCGACTAAAG	0.458000													6	41					0.00116845	0.00124057	1	1	0
ANKRD53	79998	broad.mit.edu	37	2	71209230	71209230	+	Splice_Site	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:71209230G>A	ENST00000272421.6	+	4	1048	c.782_splice	c.e4+1	p.R261_splice	ANKRD53_ENST00000457410.1_Splice_Site_p.R227_splice|ANKRD53_ENST00000441349.1_Intron|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000360589.3_Splice_Site_p.R261_splice	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	261										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GCCTGTGCCCGGTGAGAGTGT	0.597000													17	37					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59878761	59878761	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:59878761C>A	ENST00000259008.2	-	8	1260	c.993G>T	c.(991-993)atG>atT	p.M331I	BRIP1_ENST00000577598.1_Missense_Mutation_p.M331I	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	331	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AGGCTTTGCACATCCCTTGGA	0.393000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					60	61					5.10508e-28	9.39452e-28	1	1	0
TMEM52B	120939	broad.mit.edu	37	12	10342716	10342716	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:10342716C>G	ENST00000298530.3	+	4	1047	c.469C>G	c.(469-471)Cga>Gga	p.R157G	TMEM52B_ENST00000536952.1_Missense_Mutation_p.R177G|TMEM52B_ENST00000381923.2_Missense_Mutation_p.R177G	NM_153022.2	NP_694567.1			transmembrane protein 52B																		GGAGTCGACTCGAATAGTTGA	0.468000													4	48					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113702220	113702220	+	Missense_Mutation	SNP	C	C	A	rs142207091	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:113702220C>A	ENST00000297405.5	-	14	2276	c.2032G>T	c.(2032-2034)Gat>Tat	p.D678Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D678Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D638Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D574Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	678	Sushi 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAAATCCATCGCCTTCTCTA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			42	65					2.77807e-22	4.86256e-22	1	1	0
POLG	5428	broad.mit.edu	37	15	89873444	89873444	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:89873444C>A	ENST00000268124.5	-	3	1056	c.723G>T	c.(721-723)ccG>ccT	p.P241P	POLG_ENST00000442287.2_Silent_p.P241P	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	241					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.P241P(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGAGGTCAGCCGGCGACAGCT	0.617000								DNA polymerases (catalytic subunits)					13	42					9.31168e-06	1.07442e-05	1	1	0
SLC35G5	83650	broad.mit.edu	37	8	11189357	11189357	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:11189357A>C	ENST00000382435.4	+	1	961	c.742A>C	c.(742-744)Agt>Cgt	p.S248R		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	248						integral to membrane											CGTGTTGCCCAGTGACCTCCT	0.627000													14	102					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451281	155451281	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:155451281G>T	ENST00000461783.3	+	6	2197	c.924G>T	c.(922-924)ctG>ctT	p.L308L	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Silent_p.L308L|TIAM2_ENST00000456144.1_Silent_p.L308L|TIAM2_ENST00000360366.4_Silent_p.L308L|TIAM2_ENST00000318981.5_Silent_p.L308L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	308					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATGCCAACCTGGGGAGCCTCT	0.557000													40	62					8.16277e-20	1.37109e-19	1	1	0
GABRA5	2558	broad.mit.edu	37	15	27128598	27128598	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:27128598C>A	ENST00000335625.5	+	6	1279	c.391C>A	c.(391-393)Cca>Aca	p.P131T	GABRA5_ENST00000557449.1_Intron|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.P131T|GABRA5_ENST00000355395.5_Missense_Mutation_p.P131T	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	131					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATCTGGACCCCAGACACGTT	0.567000													19	70					4.96729e-08	6.25762e-08	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55826594	55826594	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:55826594G>T	ENST00000373965.2	-	19	2558	c.2164C>A	c.(2164-2166)Cca>Aca	p.P722T	PCDH15_ENST00000409834.1_Missense_Mutation_p.P326T|PCDH15_ENST00000437009.1_Missense_Mutation_p.P644T|PCDH15_ENST00000395430.1_Missense_Mutation_p.P715T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P720T|PCDH15_ENST00000361849.3_Missense_Mutation_p.P715T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.P693T|PCDH15_ENST00000373955.1_Missense_Mutation_p.P715T|PCDH15_ENST00000395433.1_Missense_Mutation_p.P693T|PCDH15_ENST00000395438.1_Missense_Mutation_p.P715T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P722T|PCDH15_ENST00000395432.2_Missense_Mutation_p.P678T|PCDH15_ENST00000320301.6_Missense_Mutation_p.P715T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	715	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAAACACTGGAGCATTGTCA	0.363000										HNSCC(58;0.16)			23	22					4.4004e-07	5.29526e-07	1	1	0
C1orf177	163747	broad.mit.edu	37	1	55272740	55272740	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:55272740G>T	ENST00000358193.3	+	2	230	c.176G>T	c.(175-177)cGt>cTt	p.R59L	C1orf177_ENST00000371273.3_Missense_Mutation_p.R59L	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	59										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TACTCCACGCGTTATTCTACC	0.572000													64	163					1.02487e-32	1.92163e-32	1	1	0
NETO1	81832	broad.mit.edu	37	18	70532073	70532073	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:70532073G>T	ENST00000327305.6	-	3	847	c.190C>A	c.(190-192)Cct>Act	p.P64T	NETO1_ENST00000583169.1_Missense_Mutation_p.P64T|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.P63T|NETO1_ENST00000299430.2_Missense_Mutation_p.P63T	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	64	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCCCGGTCAGGGGGATACTTG	0.478000													7	13					1.06961e-07	1.33314e-07	1	1	0
ZNF236	7776	broad.mit.edu	37	18	74607114	74607114	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:74607114C>T	ENST00000253159.8	+	10	1755	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	ZNF236_ENST00000320610.9_Silent_p.F521F	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	519					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCCGCGCCTTCGCCGTGAAGA	0.622000													38	53					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618853	77618853	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:77618853C>A	ENST00000521891.2	+	2	2978	c.2530C>A	c.(2530-2532)Ctg>Atg	p.L844M	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L844M|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L844M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L844M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	844						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGACCCTCAGCTGATGATCAA	0.542000										HNSCC(33;0.089)			9	21					0.0692343	0.0704355	1	1	0
NAT8L	339983	broad.mit.edu	37	4	2065787	2065787	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:2065787C>G	ENST00000423729.2	+	3	842	c.842C>G	c.(841-843)tCg>tGg	p.S281W	NAT8L_ENST00000331662.3_Missense_Mutation_p.S113W	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	281	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			ATGACCCTCTCGCTGGCTGAG	0.711000													12	36					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32265012	32265012	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:32265012G>A	ENST00000360482.2	-	7	1987	c.1858C>T	c.(1858-1860)Cta>Tta	p.L620L	SPOCD1_ENST00000533231.1_Silent_p.L620L|SPOCD1_ENST00000257100.3_Silent_p.L113L|SPOCD1_ENST00000373648.2_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	620	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CGAGTCCATAGTACCTCCTGC	0.622000													5	17					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29161767	29161767	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:29161767C>T	ENST00000321990.4	+	2	1046	c.668C>T	c.(667-669)gCa>gTa	p.A223V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	223					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTACCCTTGGCAGAGGAACTA	0.358000													6	72					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17056482	17056482	+	Silent	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:17056482G>A	ENST00000443236.1	-	22	2842	c.2811C>T	c.(2809-2811)gcC>gcT	p.A937A		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	890						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGTAAGCAAGGGCTTTGGCTG	0.562000													33	77					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925677	218925677	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:218925677G>T	ENST00000439871.1	-	0	703					NR_002712.1																						GCGCTGCTGGGTCAGTGTGCG	0.522000													4	28					0.00909568	0.0094396	1	1	0
TTN	7273	broad.mit.edu	37	2	179604608	179604608	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:179604608A>G	ENST00000589042.1	-	48	13576	c.13352T>C	c.(13351-13353)gTa>gCa	p.V4451A	TTN_ENST00000342175.6_Missense_Mutation_p.V4280A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4088A|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4134A|TTN_ENST00000359218.5_Missense_Mutation_p.V4213A|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4134	Ig-like 24.						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)			TTCTTCTGTTACAGACTTTGC	0.403000													81	53					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132529259	132529259	+	Splice_Site	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:132529259C>T	ENST00000333577.4	+	37	6846	c.6738_splice	c.e37+1	p.P2246_splice	EP400_ENST00000389561.2_Splice_Site_p.P2210_splice|EP400_ENST00000332482.4_Splice_Site_p.P2173_splice|EP400_ENST00000330386.6_Splice_Site_p.P2129_splice|EP400_ENST00000389562.2_Splice_Site_p.P2209_splice			Q96L91	EP400_HUMAN	E1A binding protein p400	2246					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGTCATGCCGGTGAGTGCT	0.547000													37	55					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551234	125551234	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:125551234G>A	ENST00000373680.2	+	1	85	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						AACCTCACCCGGGCCGCGGTT	0.587000													43	36					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1388913	1388913	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:1388913G>T	ENST00000324385.5	+	3	405	c.247G>T	c.(247-249)Gat>Tat	p.D83Y	BAIAP3_ENST00000397488.2_Missense_Mutation_p.D48Y|BAIAP3_ENST00000568887.1_Missense_Mutation_p.D48Y|BAIAP3_ENST00000397489.1_Missense_Mutation_p.D48Y|BAIAP3_ENST00000562208.1_Missense_Mutation_p.D48Y|BAIAP3_ENST00000426824.3_Missense_Mutation_p.D48Y|BAIAP3_ENST00000421665.2_Missense_Mutation_p.D48Y	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	83					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GAAACCCGGGGATGGCGTGGA	0.657000													24	86					7.01153e-11	9.81006e-11	1	1	0
COL1A1	1277	broad.mit.edu	37	17	48271988	48271988	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:48271988C>A	ENST00000225964.5	-	22	1580		c.e22-1			NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1						axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CAGGTCCACCCTGCAGGAGGA	0.677000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	4					0.150653	0.152187	1	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686414	125686414	+	Missense_Mutation	SNP	C	C	A	rs145573440	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:125686414C>A	ENST00000371126.1	-	1	420	c.178G>T	c.(178-180)Gta>Tta	p.V60L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	60										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						CACCCGCCTACCTCCCGAACC	0.701000													96	32					1.63549e-45	3.1726e-45	1	1	0
USH2A	7399	broad.mit.edu	37	1	215802297	215802297	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:215802297G>T	ENST00000366943.2	-	72	15836	c.15450C>A	c.(15448-15450)atC>atA	p.I5150I	USH2A_ENST00000307340.3_Silent_p.I5126I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5126					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)		TTTGACTCGGGATGCGCAGGA	0.537000										HNSCC(13;0.011)			19	110					2.4624e-09	3.26128e-09	1	1	0
EDIL3	10085	broad.mit.edu	37	5	83525687	83525687	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:83525687T>A	ENST00000296591.5	-	3	630	c.212A>T	c.(211-213)gAa>gTa	p.E71V	EDIL3_ENST00000380138.3_Intron	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	71					cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGAAGTTGGTTCTTCTTCATC	0.373000													7	16					0	0	1	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757909	106757909	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:106757909G>T	ENST00000390611.2	-	0	121																											GGTCTCTGTGGGTTTCACCAG	0.562000													36	55					5.8336e-16	9.30204e-16	1	1	0
AP1B1	162	broad.mit.edu	37	22	29727519	29727519	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr22:29727519C>A	ENST00000357586.2	-	19	2629	c.2443G>T	c.(2443-2445)Gcc>Tcc	p.A815S	AP1B1_ENST00000356015.2_Missense_Mutation_p.A808S|AP1B1_ENST00000405198.1_Missense_Mutation_p.A815S|AP1B1_ENST00000415447.1_Missense_Mutation_p.A808S|AP1B1_ENST00000317368.7_Missense_Mutation_p.A788S|AP1B1_ENST00000432560.2_Missense_Mutation_p.A808S|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Missense_Mutation_p.A808S	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	815					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCTTCACGGCCACCTAGGCA	0.577000													47	71					1.00776e-21	1.74497e-21	1	1	0
LPPR5	163404	broad.mit.edu	37	1	99470055	99470055	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:99470055T>A	ENST00000370188.3	-	1	533	c.173A>T	c.(172-174)gAg>gTg	p.E58V	LPPR5_ENST00000263177.4_Missense_Mutation_p.E58V|RP5-896L10.1_ENST00000425113.1_RNA	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		58						integral to membrane	hydrolase activity										GCTGCTGTCCTCCGGGCCCGG	0.687000													7	78					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148525901	148525901	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:148525901C>T	ENST00000320356.2	-	6	677	c.556G>A	c.(556-558)Gat>Aat	p.D186N	EZH2_ENST00000483967.1_Missense_Mutation_p.D177N|EZH2_ENST00000476773.1_Missense_Mutation_p.D177N|EZH2_ENST00000350995.2_Missense_Mutation_p.D147N|EZH2_ENST00000541220.1_Missense_Mutation_p.D177N|EZH2_ENST00000536783.1_Missense_Mutation_p.D77N|EZH2_ENST00000460911.1_Missense_Mutation_p.D186N|EZH2_ENST00000478654.1_Missense_Mutation_p.D177N	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	186	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			tcatcatcatcgtcatcatca	0.398000			Mis		DLBCL								10	33					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57544619	57544619	+	Splice_Site	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:57544619A>G	ENST00000438423.2	+	15	1485	c.1188_splice	c.e15-1	p.K397_splice	TCF12_ENST00000559703.1_Splice_Site_p.K31_splice|TCF12_ENST00000343827.3_Intron|TCF12_ENST00000537840.1_Intron|TCF12_ENST00000333725.5_Splice_Site_p.K397_splice|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000267811.5_Intron|TCF12_ENST00000559710.1_Intron|TCF12_ENST00000452095.2_Splice_Site_p.K393_splice|TCF12_ENST00000557843.1_Intron|TCF12_ENST00000543579.1_Splice_Site_p.K227_splice	NM_207036.1|NM_207037.1	NP_996919.1|NP_996920.1	Q99081	HTF4_HUMAN	transcription factor 12	396					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACTTTGCCAGAAAAATCGAGT	0.398000			T	TEC	extraskeletal myxoid chondrosarcoma								8	26					0	0	1	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89247110	89247110	+	RNA	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:89247110G>A	ENST00000496168.1	-	0	240																											TGTCACATTTGGCACCTGAGA	0.458000													26	78					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43529171	43529171	+	Silent	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:43529171G>C	ENST00000401740.1	-	2	205	c.102C>G	c.(100-102)gcC>gcG	p.A34A	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Silent_p.A34A|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	34					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCATGACTTGGGCAGTGGTAG	0.473000													29	132					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276592	186276592	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:186276592C>A	ENST00000445192.2	+	7	1786	c.1741C>A	c.(1741-1743)Ccc>Acc	p.P581T	PRG4_ENST00000367485.4_Missense_Mutation_p.P488T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P538T|PRG4_ENST00000367483.4_Missense_Mutation_p.P540T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	581	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCAACTACCCCCAAGGAGCC	0.642000													29	120					3.90053e-15	6.12872e-15	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136700362	136700362	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:136700362C>A	ENST00000445907.2	+	3	1278	c.750C>A	c.(748-750)agC>agA	p.S250R	CHRM2_ENST00000453373.1_Missense_Mutation_p.S250R|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S250R|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S250R|CHRM2_ENST00000401861.1_Missense_Mutation_p.S250R|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S250R|AC009264.1_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	250					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACATGCCCAGCAGTGACGATG	0.502000													9	29					0.000442599	0.000475398	1	1	0
RASSF2	9770	broad.mit.edu	37	20	4776554	4776554	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:4776554G>T	ENST00000379400.3	-	5	389	c.194C>A	c.(193-195)cCc>cAc	p.P65H	RASSF2_ENST00000379376.2_Missense_Mutation_p.P65H	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	65					cell cycle|signal transduction	nucleus	protein binding	p.P65H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CAGGCGAATGGGCCGGCGCAG	0.597000													24	102					5.45024e-15	8.52219e-15	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190068003	190068003	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:190068003G>T	ENST00000367462.3	-	8	1677	c.1446C>A	c.(1444-1446)acC>acA	p.T482T	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.T380T	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		482						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TATAGTGATCGGTGGACTCGG	0.532000													101	218					5.93467e-45	1.14951e-44	1	1	0
IREB2	3658	broad.mit.edu	37	15	78765680	78765680	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:78765680A>T	ENST00000258886.8	+	8	1129	c.980A>T	c.(979-981)aAc>aTc	p.N327I	IREB2_ENST00000560440.1_Missense_Mutation_p.N327I	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	327							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGGTCATCAAACCCTTTTGTT	0.373000													15	18					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72981312	72981312	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:72981312G>T	ENST00000262209.4	-	3	597	c.390C>A	c.(388-390)aaC>aaA	p.N130K		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	130						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAGCCATCATGTTGAAGTTTC	0.488000													57	223					4.09106e-26	7.40179e-26	1	1	0
CDC20B	166979	broad.mit.edu	37	5	54416315	54416315	+	Missense_Mutation	SNP	G	G	T	rs142234339	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:54416315G>T	ENST00000296733.1	-	10	1453	c.1279C>A	c.(1279-1281)Cgc>Agc	p.R427S	CDC20B_ENST00000381375.2_Missense_Mutation_p.R427S|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Intron	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	427										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATGTGTAAGCGTCCATCCTTC	0.468000													17	50					6.94344e-10	9.40866e-10	1	1	0
DNER	92737	broad.mit.edu	37	2	230223351	230223351	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:230223351G>A	ENST00000341772.4	-	13	2253	c.2119C>T	c.(2119-2121)Cgg>Tgg	p.R707W		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	707					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.R707W(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATTGCAGGCCGGGATTTCTTT	0.363000													11	27					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183498036	183498036	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:183498036A>G	ENST00000367537.3	+	8	848	c.653A>G	c.(652-654)tAt>tGt	p.Y218C	SMG7_ENST00000508461.1_Missense_Mutation_p.Y147C|SMG7_ENST00000515829.2_Missense_Mutation_p.Y189C|SMG7_ENST00000507469.1_Missense_Mutation_p.Y189C|SMG7_ENST00000456731.2_Missense_Mutation_p.Y147C|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.Y189C			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	189					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GGTCAGCCTTATAATCAGTTG	0.408000													16	73					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96091434	96091434	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:96091434G>T	ENST00000453304.1	-	15	2849	c.2501C>A	c.(2500-2502)aCc>aAc	p.T834N		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	834					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGTGACCGTGGTGATGGTGTT	0.567000													38	128					1.62957e-23	2.86787e-23	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503614	140503614	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:140503614C>A	ENST00000194152.1	+	1	2034	c.2034C>A	c.(2032-2034)gcC>gcA	p.A678A		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		678					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCCCGGCCCAGGCCCAGG	0.697000													52	205					1.72184e-34	3.24732e-34	1	1	0
UBA7	7318	broad.mit.edu	37	3	49848452	49848452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:49848452C>A	ENST00000333486.3	-	10	1353	c.1195G>T	c.(1195-1197)Ggg>Tgg	p.G399W		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	399	2 approximate repeats.				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)		AGGAGCTCCCCATCTTCCGGA	0.562000													8	41					0.00448238	0.0046934	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25463844	25463844	+	RNA	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:25463844C>A	ENST00000424208.1	+	0	2994				SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1																						ACGCTGAGGCCCAGCCTGGGG	0.532000													40	86					2.87052e-16	4.58856e-16	1	1	0
TECTA	7007	broad.mit.edu	37	11	120998969	120998969	+	Silent	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:120998969A>C	ENST00000392793.1	+	9	2554	c.2283A>C	c.(2281-2283)gcA>gcC	p.A761A	TECTA_ENST00000264037.2_Silent_p.A761A			O75443	TECTA_HUMAN	tectorin alpha	761	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGCCCGATGCAGGACCTGCTT	0.592000													25	120					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618421	77618421	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:77618421C>A	ENST00000521891.2	+	2	2546	c.2098C>A	c.(2098-2100)Cgt>Agt	p.R700S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R700S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R700S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R700S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	700						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAAACCCTTCCGTTGTGAGGT	0.498000										HNSCC(33;0.089)			22	65					2.37509e-13	3.53387e-13	1	1	0
TEKT5	146279	broad.mit.edu	37	16	10788556	10788556	+	Missense_Mutation	SNP	C	C	T	rs16957557	byFrequency	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:10788556C>T	ENST00000283025.2	-	1	246	c.175G>A	c.(175-177)Gcc>Acc	p.A59T		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	59			A -> T (in dbSNP:rs16957557).		microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGGACGTTGGCTATCTTGTAG	0.607000													6	104					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104709414	104709414	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:104709414G>T	ENST00000406091.3	+	2	277	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	124	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)			GCCAACCTGTGGTATCTGCCA	0.438000										HNSCC(12;0.0054)			22	82					1.55795e-14	2.40114e-14	1	1	0
ZC3H13	23091	broad.mit.edu	37	13	46543898	46543898	+	Silent	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:46543898C>G	ENST00000242848.4	-	14	3129	c.2781G>C	c.(2779-2781)ctG>ctC	p.L927L	ZC3H13_ENST00000282007.3_Silent_p.L927L			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	927							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTGAGCTTTCCAGGATTTCTG	0.428000													34	104					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61655517	61655517	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:61655517A>T	ENST00000423902.2	+	2	2005	c.1526A>T	c.(1525-1527)cAg>cTg	p.Q509L	CHD7_ENST00000525508.1_Missense_Mutation_p.Q509L|CHD7_ENST00000524602.1_Missense_Mutation_p.Q509L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	509	Pro-rich.				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)			CCATCTTTTCAGCAGTTGCCA	0.572000													16	14					0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111176302	111176302	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:111176302C>T	ENST00000267328.3	-	2	628	c.415G>A	c.(415-417)Gac>Aac	p.D139N		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	139					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GAGACACGGTCCCCAGCGTCC	0.572000													23	76					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110738362	110738362	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:110738362C>A	ENST00000331565.4	+	10	2132	c.1647C>A	c.(1645-1647)acC>acA	p.T549T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	549					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TTTATGGAACCAAGAAGTAAG	0.517000													22	24					6.33239e-15	9.85377e-15	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885084	88885084	+	Silent	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:88885084G>C	ENST00000319675.3	-	1	1212	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	372										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGAAGCCCCCGAGGCGAGAAG	0.592000													15	129					0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57746678	57746678	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:57746678A>T	ENST00000302804.7	+	7	1009	c.823A>T	c.(823-825)Aga>Tga	p.R275*	AURKC_ENST00000599062.1_Nonsense_Mutation_p.R272*|AURKC_ENST00000598785.1_Nonsense_Mutation_p.R241*|AURKC_ENST00000448930.1_Nonsense_Mutation_p.R241*|AURKC_ENST00000415300.2_Nonsense_Mutation_p.R256*	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	275	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CAGGCTTCTCAGATACCAGCC	0.577000													27	49					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619207	52619207	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:52619207T>C	ENST00000600228.1	-	4	1471	c.1210A>G	c.(1210-1212)Act>Gct	p.T404A	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTCTCTACAGTGTGAATTCGT	0.418000													32	60					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78062087	78062087	+	Splice_Site	SNP	G	G	T	rs149263151		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:78062087G>T	ENST00000299642.4	+	2	311	c.226_splice	c.e2+1	p.V76_splice	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Splice_Site_p.V67_splice	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	67	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CCTGCAGACAGGTAAGGTGCA	0.433000													5	22					0.014758	0.0151938	1	1	0
TLR9	54106	broad.mit.edu	37	3	52256013	52256013	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:52256013G>A	ENST00000494383.1	-	5	2778	c.2779C>T	c.(2779-2781)Cct>Tct	p.P927S	TLR9_ENST00000360658.2_Silent_p.F773F|TLR9_ENST00000597542.1_Silent_p.F797F			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 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 JUN kinase activity|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|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCTCCAGCAGGAAGTCCATAA	0.647000													21	40					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172557925	172557925	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:172557925C>T	ENST00000367723.3	+	17	2264	c.2140C>T	c.(2140-2142)Cat>Tat	p.H714Y	SUCO_ENST00000263688.3_Missense_Mutation_p.H562Y	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		AGTACACACACATGACATGGA	0.363000													4	17					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225729619	225729619	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:225729619C>T	ENST00000409592.3	-	12	1538	c.1425G>A	c.(1423-1425)aaG>aaA	p.K475K	DOCK10_ENST00000258390.7_Silent_p.K481K			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	481							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTGGAAGTCCCTTGATGTGAG	0.438000													12	105					0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203453271	203453271	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:203453271A>G	ENST00000343110.2	+	2	1086	c.959A>G	c.(958-960)aAc>aGc	p.N320S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	320					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TACCTCAACAACAATAGCATC	0.572000													6	70					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872764	55872764	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:55872764C>A	ENST00000313503.1	+	1	246	c.246C>A	c.(244-246)acC>acA	p.T82T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CACCTAAAACCTTAGCGAACT	0.433000										HNSCC(53;0.14)			24	161					1.10513e-12	1.62742e-12	1	1	0
DSC2	1824	broad.mit.edu	37	18	28667706	28667706	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:28667706T>A	ENST00000280904.6	-	6	1144	c.701A>T	c.(700-702)gAg>gTg	p.E234V	DSC2_ENST00000251081.6_Missense_Mutation_p.E234V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	234	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATTTTCATCCTCTATTTTGAT	0.338000													14	37					0	0	1	0	0
RNF182	221687	broad.mit.edu	37	6	13977775	13977775	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:13977775C>A	ENST00000488300.1	+	3	948	c.425C>A	c.(424-426)cCg>cAg	p.P142Q	RNF182_ENST00000537388.1_Missense_Mutation_p.P142Q|RNF182_ENST00000537663.1_Missense_Mutation_p.P142Q|RNF182_ENST00000544682.1_Missense_Mutation_p.P142Q	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	142						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GAGAGCTCCCCGTCCCTGAGC	0.562000													18	97					6.94344e-10	9.40866e-10	1	1	0
TBC1D32	221322	broad.mit.edu	37	6	121655574	121655574	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:121655574C>A	ENST00000275159.6	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	TBC1D32_ENST00000398212.2_Start_Codon_SNP_p.M1I					TBC1 domain family, member 32																		AGAAATGGGCCATCCTGTTGG	0.622000													22	33					7.45023e-12	1.07624e-11	1	1	0
INSRR	3645	broad.mit.edu	37	1	156814022	156814022	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:156814022C>T	ENST00000368195.3	-	15	3184	c.2788G>A	c.(2788-2790)Ggg>Agg	p.G930R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	930					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCGTGAGCCCCACAGGGGTG	0.582000													5	32					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934324	4934324	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:4934324C>T	ENST00000345988.2	-	22	4421	c.4332G>A	c.(4330-4332)acG>acA	p.T1444T	PPL_ENST00000590782.2_Silent_p.T1442T	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1444					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCACCTTCTGCGTATGGGTTA	0.677000													62	153					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57556748	57556748	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:57556748G>T	ENST00000243077.3	+	15	2978	c.2512G>T	c.(2512-2514)Gac>Tac	p.D838Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	838	EGF-like 4.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTTGGACGCAGACGGCGTCAC	0.647000													12	15					2.80697e-09	3.71004e-09	1	1	0
ASIC1	41	broad.mit.edu	37	12	50452898	50452898	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr12:50452898C>T	ENST00000228468.4	+	2	734	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	ASIC1_ENST00000447966.2_Silent_p.L117L	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	117					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCTGCTGGCCCTGCTCAACAA	0.577000													19	66					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1905111	1905111	+	Silent	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:1905111A>T	ENST00000518288.1	+	30	3952	c.3789A>T	c.(3787-3789)gcA>gcT	p.A1263A	ARHGEF10_ENST00000398564.1_Silent_p.A1264A|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000520359.1_Silent_p.A1201A|ARHGEF10_ENST00000262112.6_Silent_p.A1235A|ARHGEF10_ENST00000349830.3_Silent_p.A1239A			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1264					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACCCTGACGCAGCCATCTGGT	0.602000													59	102					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108719443	108719443	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:108719443C>T	ENST00000232603.5	-	21	2230	c.2148G>A	c.(2146-2148)ttG>ttA	p.L716L	MORC1_ENST00000483760.1_Silent_p.L695L	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	716					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CATCTTCAGTCAATACCTTAC	0.353000													22	36					0	0	1	0	0
CXCL5	6374	broad.mit.edu	37	4	74864245	74864245	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:74864245C>T	ENST00000296027.4	-	1	251	c.54G>A	c.(52-54)ttG>ttA	p.L18L		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	18					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ACAGCGCGCACAAGGAGCTCG	0.692000													8	9					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653792	159653792	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:159653792G>C	ENST00000297267.9	+	11	2448	c.2248G>C	c.(2248-2250)Gcc>Ccc	p.A750P	FNDC1_ENST00000340366.6_Missense_Mutation_p.A687P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	750	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGGTGAGGACGCCCCAGCCAC	0.622000													35	60					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968668	4968668	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrY:4968668A>T	ENST00000333703.4	+	5	3529	c.3016A>T	c.(3016-3018)Agt>Tgt	p.S1006C	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.S1017C|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.S1017C	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1017					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCCTCAAGCAGTTCAGATCC	0.488000													14	6					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156526359	156526359	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:156526359T>C	ENST00000361170.2	-	12	1266	c.1256A>G	c.(1255-1257)cAg>cGg	p.Q419R		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	419					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCTCCAGCTGGTACATAGA	0.602000													14	148					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263786	34263786	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:34263786C>A	ENST00000262622.3	+	4	1851	c.1093C>A	c.(1093-1095)Ccg>Acg	p.P365T	CHST8_ENST00000438847.2_Missense_Mutation_p.P365T|CHST8_ENST00000434302.1_Missense_Mutation_p.P365T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	365					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CATCCGCGCGCCGCGGAACCT	0.642000													56	31					1.46357e-32	2.73624e-32	1	1	0
E2F2	1870	broad.mit.edu	37	1	23857034	23857034	+	Splice_Site	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:23857034C>T	ENST00000361729.2	-	1	678	c.252_splice	c.e1+1	p.P84_splice		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	84	Cyclin A/CDK2 binding (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCAGCATTACCGGCAGCCGGC	0.677000													9	27					0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53741789	53741789	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:53741789C>A	ENST00000333952.4	-	5	356	c.191G>T	c.(190-192)aGc>aTc	p.S64I	ZNF677_ENST00000598513.1_Missense_Mutation_p.S64I			Q86XU0	ZN677_HUMAN	zinc finger protein 677	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TAATCCCTTGCTTGTAAATCC	0.303000													6	21					0.0215528	0.0221186	1	1	0
MPHOSPH6	10200	broad.mit.edu	37	16	82182456	82182456	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:82182456C>A	ENST00000258169.4	-	5	413	c.363G>T	c.(361-363)ttG>ttT	p.L121F	MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.L92F	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	121					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						TTGTCCCCACCAAGGTCTCAT	0.383000													23	69					3.10358e-05	3.49051e-05	1	1	0
RYR2	6262	broad.mit.edu	37	1	237732509	237732509	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:237732509G>T	ENST00000366574.2	+	29	3805	c.3488G>T	c.(3487-3489)gGg>gTg	p.G1163V	RYR2_ENST00000360064.6_Missense_Mutation_p.G1161V|RYR2_ENST00000542537.1_Missense_Mutation_p.G1147V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1163	4 X approximate repeats.|B30.2/SPRY 2.				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)			GATGTCGTGGGGTGTATGGTT	0.493000													6	28					1.26484e-09	1.69787e-09	1	1	0
FOXR2	139628	broad.mit.edu	37	X	55650437	55650437	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:55650437C>A	ENST00000339140.3	+	1	605	c.293C>A	c.(292-294)cCc>cAc	p.P98H		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	98					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GCCCCAAAGCCCAGTGGAAAA	0.547000													24	9					3.5997e-14	5.50844e-14	1	1	0
MAATS1	89876	broad.mit.edu	37	3	119462953	119462953	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:119462953G>T	ENST00000273390.5	+	14	1889	c.1812G>T	c.(1810-1812)gaG>gaT	p.E604D		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		TGCTGGCTGAGCGCCAGCGGC	0.577000													36	54					1.23713e-20	2.11938e-20	1	1	0
FREM1	158326	broad.mit.edu	37	9	14784488	14784488	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:14784488T>A	ENST00000380881.4	-	25	5140	c.4325A>T	c.(4324-4326)cAg>cTg	p.Q1442L	FREM1_ENST00000380880.3_Missense_Mutation_p.Q1441L|FREM1_ENST00000422223.2_Missense_Mutation_p.Q1441L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1441					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATATTCGATCTGGCCATATCG	0.493000													29	12					0	0	1	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163464	32163464	+	RNA	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:32163464G>C	ENST00000564145.1	-	0	65																											GGGCAAATGTGACACGTCCGC	0.502000													6	38					0	0	1	0	0
LAMTOR5	10542	broad.mit.edu	37	1	110950293	110950293	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:110950293C>T	ENST00000256644.4	-	1	271	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	LAMTOR5_ENST00000602318.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5-AS1_ENST00000457535.1_RNA	NM_006402.2	NP_006393.2			late endosomal/lysosomal adaptor, MAPK and MTOR activator 5																		GCACGTCCTTCTCCACCACAG	0.622000													29	98					0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	202918	202918	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:202918G>T	ENST00000261601.6	+	11	1006	c.915G>T	c.(913-915)ttG>ttT	p.L305F	USP14_ENST00000400266.3_Missense_Mutation_p.L294F|USP14_ENST00000582707.1_Missense_Mutation_p.L270F|USP14_ENST00000383589.2_Missense_Mutation_p.L259F	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	305					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTCCAACGTTGCAAAGAAATG	0.328000													5	16					3.59834e-05	4.00851e-05	1	1	0
ASPM	259266	broad.mit.edu	37	1	197072796	197072796	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:197072796T>C	ENST00000367409.4	-	18	5841	c.5585A>G	c.(5584-5586)aAg>aGg	p.K1862R	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1862					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATGAAGAGTCTTGTACGCCCT	0.378000													7	38					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107908	55107908	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:55107908C>A	ENST00000251372.3	+	7	1395	c.1213C>A	c.(1213-1215)Ccc>Acc	p.P405T	LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	405	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGCTCCAACCCCTACCTGCT	0.577000													31	101					6.90743e-12	1.00231e-11	1	1	0
OTOF	9381	broad.mit.edu	37	2	26697412	26697412	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:26697412C>T	ENST00000272371.2	-	26	3383	c.3257G>A	c.(3256-3258)gGa>gAa	p.G1086E	OTOF_ENST00000339598.3_Missense_Mutation_p.G339E|OTOF_ENST00000403946.3_Missense_Mutation_p.G1086E|OTOF_ENST00000338581.6_Missense_Mutation_p.G339E|OTOF_ENST00000402415.3_Missense_Mutation_p.G396E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1086					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCAGGTCTCCAGCTGTGGC	0.662000													19	16					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148068985	148068985	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:148068985C>G	ENST00000370460.2	+	20	4191	c.3712C>G	c.(3712-3714)Cgc>Ggc	p.R1238G	AFF2_ENST00000342251.3_Missense_Mutation_p.R1205G|AFF2_ENST00000286437.5_Missense_Mutation_p.R879G|AFF2_ENST00000370457.5_Missense_Mutation_p.R1203G	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1238					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CATTCCCCAGCGCATTCACCA	0.517000													7	89					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125299861	125299861	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:125299861T>A	ENST00000298282.9	+	12	1287	c.1016T>A	c.(1015-1017)tTc>tAc	p.F339Y	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.F275Y	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	339						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CTGGGCAGGTTCATCAATGCC	0.592000													157	56					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31725510	31725510	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:31725510C>A	ENST00000396556.2	-	8	1464	c.1342G>T	c.(1342-1344)Ggg>Tgg	p.G448W	OSBPL10_ENST00000438237.2_Missense_Mutation_p.G384W	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	448					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGTGTGGCCCCAGCGGTGATG	0.552000													27	45					2.12542e-12	3.11567e-12	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124345885	124345885	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:124345885G>T	ENST00000338354.3	+	16	1875	c.1769G>T	c.(1768-1770)gGt>gTt	p.G590V	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.G580V|DMBT1_ENST00000344338.3_Missense_Mutation_p.G580V|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G590V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	590	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.G590D(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GAAGACGCTGGTGTCATCTGC	0.512000													67	44					8.73484e-25	1.55635e-24	1	1	0
LRRTM1	347730	broad.mit.edu	37	2	80529947	80529947	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:80529947T>A	ENST00000295057.3	-	2	1654	c.998A>T	c.(997-999)cAg>cTg	p.Q333L	CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.Q333L|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	333	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GTAGCGCCCCTGGAAGTTGTT	0.637000										HNSCC(69;0.2)			16	37					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48285188	48285188	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:48285188G>T	ENST00000435803.1	+	12	1494	c.1470G>T	c.(1468-1470)gtG>gtT	p.V490V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	490					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAAGGATGTGTTCTTTTGGG	0.328000													17	46					2.94398e-08	3.75271e-08	1	1	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812909	31812909	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:31812909G>T	ENST00000334067.3	+	1	313	c.264G>T	c.(262-264)caG>caT	p.Q88H		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	88						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						GTCCCCGCCAGACTAACTACA	0.517000													15	48					7.41877e-09	9.7061e-09	1	1	0
RYR2	6262	broad.mit.edu	37	1	237890403	237890403	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:237890403G>T	ENST00000366574.2	+	76	11059	c.10742G>T	c.(10741-10743)aGa>aTa	p.R3581I	RYR2_ENST00000360064.6_Missense_Mutation_p.R3579I|RYR2_ENST00000542537.1_Missense_Mutation_p.R3565I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3581					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)			CATCCTCAGAGATCTAAAAAG	0.413000													9	15					0.00448238	0.0046934	1	1	0
PRR23B	389151	broad.mit.edu	37	3	138739481	138739481	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:138739481G>T	ENST00000329447.5	-	1	287	c.23C>A	c.(22-24)cCc>cAc	p.P8H	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	8										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAAGGCGCTGGGGCTGCGGGG	0.741000													4	3					0.00024832	0.000271009	1	1	0
GUCA1C	9626	broad.mit.edu	37	3	108672410	108672410	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:108672410T>C	ENST00000261047.3	-	1	332	c.200A>G	c.(199-201)aAc>aGc	p.N67S	GUCA1C_ENST00000393963.3_Missense_Mutation_p.N67S|GUCA1C_ENST00000471108.1_Missense_Mutation_p.N67S	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	67	EF-hand 2.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TCTTACCTTGTTCGTGTCAAA	0.328000													7	43					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77089301	77089301	+	Splice_Site	SNP	G	G	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:77089301G>A	ENST00000426216.2	+	16	1951	c.1935_splice	c.e16+1	p.R645_splice	ATP9B_ENST00000307671.7_Splice_Site_p.R645_splice	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	645					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GTCATCGTCAGGGTGAGGCTG	0.517000													33	53					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109696448	109696448	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:109696448C>A	ENST00000465301.2	+	3	2849	c.2603C>A	c.(2602-2604)tCt>tAt	p.S868Y	RGAG1_ENST00000540313.1_Missense_Mutation_p.S868Y	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	868										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCCCAGACTCTAGAGTGACA	0.552000													61	82					1.61742e-36	3.08193e-36	1	1	0
DAB2	1601	broad.mit.edu	37	5	39383359	39383359	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:39383359G>T	ENST00000545653.1	-	9	1169	c.639C>A	c.(637-639)atC>atA	p.I213I	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Silent_p.I234I|DAB2_ENST00000509337.1_Silent_p.I213I	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	234					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCACTAACAGGATATCTTTGC	0.348000													10	62					1.58986e-06	1.87299e-06	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813908	106813908	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:106813908G>T	ENST00000407775.2	+	8	1848	c.1598G>T	c.(1597-1599)aGt>aTt	p.S533I	ZFPM2_ENST00000520492.1_Missense_Mutation_p.S401I|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S264I|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S401I|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	533					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S533T(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CATGGCAGTAGTAGCTACCCT	0.453000													71	97					1.43987e-31	2.68415e-31	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185800856	185800856	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:185800856G>T	ENST00000302277.6	+	4	1327	c.733G>T	c.(733-735)Gga>Tga	p.G245*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	245						intracellular	zinc ion binding	p.G245R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGTGGGAAAAGGATTTAGCAG	0.423000													13	106					1.99824e-07	2.45031e-07	1	1	0
A1BG	1	broad.mit.edu	37	19	58864543	58864543	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:58864543G>T	ENST00000263100.3	-	3	152	c.91C>A	c.(91-93)Ctg>Atg	p.L31M	A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	31	Ig-like V-type 1.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TCTGCCCACAGGCTGGGCTGC	0.617000													27	85					2.36697e-06	2.76325e-06	1	1	0
ADK	132	broad.mit.edu	37	10	76360241	76360241	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:76360241A>G	ENST00000372734.3	+	9	1003	c.816A>G	c.(814-816)atA>atG	p.I272M	ADK_ENST00000286621.2_Missense_Mutation_p.I289M|ADK_ENST00000539909.1_Missense_Mutation_p.I232M|ADK_ENST00000541550.1_Missense_Mutation_p.I254M	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	289					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	ATGACACTATAATGGCTACAG	0.348000													6	17					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771750	100771750	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:100771750C>A	ENST00000223095.4	+	2	233	c.76C>A	c.(76-78)Cat>Aat	p.H26N	SERPINE1_ENST00000445463.2_Missense_Mutation_p.H26N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	26					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TGCTGTGCACCATCCCCCATC	0.612000													16	67					1.15088e-07	1.41663e-07	1	1	0
POTEG	404785	broad.mit.edu	37	14	19566079	19566079	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:19566079C>A	ENST00000409832.3	+	6	1175	c.1123C>A	c.(1123-1125)Cca>Aca	p.P375T	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	375										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAACAGCAATCCAGGTAAGAC	0.363000													7	99					7.48243e-07	8.92083e-07	1	1	0
LRP2	4036	broad.mit.edu	37	2	170135918	170135918	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:170135918C>G	ENST00000263816.3	-	12	1814	c.1529G>C	c.(1528-1530)gGg>gCg	p.G510A	LRP2_ENST00000443831.1_Missense_Mutation_p.G510A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	510					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCTAGGATGCCCCAAGTTTTC	0.383000													11	73					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676893	37676893	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:37676893G>C	ENST00000532828.2	-	5	1797	c.1546C>G	c.(1546-1548)Cat>Gat	p.H516D	ZNF585B_ENST00000312908.5_Missense_Mutation_p.H104D|ZNF585B_ENST00000531805.1_Missense_Mutation_p.H461D|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCCCAGTATGGATTCTCTGA	0.383000													10	38					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133900520	133900520	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:133900520G>C	ENST00000220616.4	+	10	2508	c.2468G>C	c.(2467-2469)aGt>aCt	p.S823T	TG_ENST00000377869.1_Missense_Mutation_p.S823T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	823	Thyroglobulin type-1 7.				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)		TTTATTCAAAGTCTGTATGAG	0.527000													14	122					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215824077	215824077	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:215824077G>C	ENST00000366943.2	-	65	14586	c.14200C>G	c.(14200-14202)Cca>Gca	p.P4734A	USH2A_ENST00000307340.3_Missense_Mutation_p.P4734A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4734	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)		CCTTCTGGTGGGGCTGGCCCG	0.552000										HNSCC(13;0.011)			64	159					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48221329	48221329	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:48221329A>C	ENST00000394747.1	-	20	3065	c.2716T>G	c.(2716-2718)Tgc>Ggc	p.C906G	ABCC11_ENST00000353782.5_Missense_Mutation_p.C906G|ABCC11_ENST00000394748.1_Missense_Mutation_p.C906G|ABCC11_ENST00000356608.2_Missense_Mutation_p.C906G|ABCC11_ENST00000537808.1_3'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	906	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTCATGGGGCAGCGGAAAACC	0.512000													7	21					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79918847	79918847	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr13:79918847G>T	ENST00000438737.2	-	15	2581	c.2141C>A	c.(2140-2142)tCc>tAc	p.S714Y	RBM26_ENST00000267229.7_Missense_Mutation_p.S687Y|RBM26_ENST00000438724.1_Missense_Mutation_p.S690Y			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	714					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TGCAGAGGTGGAAACAAGTAA	0.353000													7	32					0.27861	0.279043	1	1	0
MICALL2	79778	broad.mit.edu	37	7	1482021	1482021	+	Silent	SNP	C	C	T	rs146147189		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:1482021C>T	ENST00000297508.7	-	7	1693	c.1518G>A	c.(1516-1518)cgG>cgA	p.R506R	MICALL2_ENST00000405088.4_Silent_p.R294R	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	506						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGCCAAGCACCCGGGGAGACG	0.642000													43	124					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815142	106815142	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:106815142C>A	ENST00000407775.2	+	8	3082	c.2832C>A	c.(2830-2832)gtC>gtA	p.V944V	ZFPM2_ENST00000520492.1_Silent_p.V812V|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.V675V|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.V812V|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	944					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTTGAAGGTCTTTAGTGAAG	0.408000													12	33					0.00185496	0.00196139	1	1	0
MEOX2	4223	broad.mit.edu	37	7	15725719	15725719	+	Silent	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr7:15725719C>A	ENST00000262041.5	-	1	718	c.309G>T	c.(307-309)gcG>gcT	p.A103A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	103					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TGTGCCGAGCCGCACTCGGTG	0.657000													8	27					0.000157383	0.000172347	1	1	0
TEP1	7011	broad.mit.edu	37	14	20845913	20845913	+	Splice_Site	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:20845913C>A	ENST00000262715.5	-	40	5762		c.e40-1		TEP1_ENST00000556935.1_Splice_Site|TEP1_ENST00000545983.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACACCTGAACCTGGGAACCAA	0.577000													28	55					3.1745e-13	4.70161e-13	1	1	0
SLC39A1	27173	broad.mit.edu	37	1	153932648	153932648	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:153932648G>C	ENST00000368623.3	-	3	1660	c.901C>G	c.(901-903)Caa>Gaa	p.Q301E	SLC39A1_ENST00000537590.1_Missense_Mutation_p.Q199E|SLC39A1_ENST00000356205.4_Missense_Mutation_p.Q301E|SLC39A1_ENST00000310483.6_Missense_Mutation_p.Q301E|SLC39A1_ENST00000368621.1_Missense_Mutation_p.Q301E			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	301						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		AGGATCCTTTGCTCAGAACTG	0.572000													13	161					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6820742	6820742	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:6820742C>A	ENST00000304076.2	+	2	328	c.234C>A	c.(232-234)ttC>ttA	p.F78L	VAV1_ENST00000539284.1_Missense_Mutation_p.F13L|VAV1_ENST00000602142.1_Missense_Mutation_p.F78L|VAV1_ENST00000599806.1_Missense_Mutation_p.F23L|VAV1_ENST00000596764.1_Missense_Mutation_p.F78L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	78	CH.|Leu-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTAGAACCTTCCTGTCCACCT	0.552000													65	49					2.02796e-37	3.87566e-37	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144906401	144906401	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:144906401C>T	ENST00000370490.1	+	1	6713	c.2458C>T	c.(2458-2460)Cct>Tct	p.P820S	SLITRK2_ENST00000428560.2_Missense_Mutation_p.P820S|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P820S|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P820S|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P820S			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	820						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCAACCACCCTTTACTGCA	0.443000													28	15					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33936604	33936604	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:33936604G>T	ENST00000389232.4	+	28	3719	c.3649G>T	c.(3649-3651)Ggt>Tgt	p.G1217C	RYR3_ENST00000415757.3_Missense_Mutation_p.G1217C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1217	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TACCATGTGCGGTCTCCAAGA	0.517000													5	17					0.014758	0.0151938	1	1	0
SEMA6D	80031	broad.mit.edu	37	15	48062887	48062887	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:48062887C>A	ENST00000316364.5	+	19	2566	c.2127C>A	c.(2125-2127)gaC>gaA	p.D709E	SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D647E|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D647E|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D634E|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D690E|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D647E|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D709E|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D666E|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D653E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	709					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CATGCACAGACTCCAGTGGAA	0.428000													16	46					9.16793e-09	1.19461e-08	1	1	0
SERPINA13P	388007	broad.mit.edu	37	14	95108036	95108036	+	RNA	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:95108036G>T	ENST00000469935.1	+	0	641					NR_015340.1																						CAGGCTCCGTGGGCAGGGTCC	0.647000													41	120					1.02591e-13	1.53707e-13	1	1	0
FAM27L	284123	broad.mit.edu	37	17	21826323	21826323	+	RNA	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:21826323C>G	ENST00000426869.3	+	0	506					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		TTTGGCACCCCTCCCCTTATG	0.582000													9	9					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34065799	34065799	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:34065799C>G	ENST00000397527.1	+	17	2687	c.1967C>G	c.(1966-1968)gCc>gGc	p.A656G	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.A656G|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	656	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGGAGGGAAGCCCTGTGGGAA	0.587000													18	11					0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994843	39994843	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:39994843G>T	ENST00000205143.4	+	5	792	c.785G>T	c.(784-786)gGc>gTc	p.G262V	DLL3_ENST00000356433.5_Missense_Mutation_p.G262V	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	262					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGCCCCAGGGGCCCGTCCTCT	0.652000													38	37					5.71845e-15	8.93075e-15	1	1	0
TOP1MT	116447	broad.mit.edu	37	8	144411637	144411637	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:144411637C>T	ENST00000329245.4	-	3	277	c.243G>A	c.(241-243)agG>agA	p.R81R	TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000523676.1_5'UTR|TOP1MT_ENST00000519148.1_5'UTR	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	81					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ATCTCACAGGCCTTCCTGCAG	0.517000													26	166					0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234544	26234544	+	Silent	SNP	C	C	T	rs145088669		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:26234544C>T	ENST00000244534.5	-	1	672	c.618G>A	c.(616-618)ggG>ggA	p.G206G		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	206					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CCTTCGGCTTCCCCGACTTAG	0.502000													14	179					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189000	98189000	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:98189000A>G	ENST00000332650.5	+	1	677	c.580A>G	c.(580-582)Atc>Gtc	p.I194V		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGATCCTTATATCAATGAACT	0.338000													33	66					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120831675	120831675	+	Splice_Site	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr2:120831675G>T	ENST00000263713.5	+	5	542		c.e5-1		EPB41L5_ENST00000331393.4_Splice_Site|EPB41L5_ENST00000443124.1_Splice_Site|EPB41L5_ENST00000443902.2_Splice_Site|EPB41L5_ENST00000452780.1_Splice_Site	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5							cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TTAAATGACAGTTGGTTCACC	0.328000													9	15					2.17888e-05	2.4591e-05	1	1	0
CHD6	84181	broad.mit.edu	37	20	40033717	40033717	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:40033717G>T	ENST00000373233.3	-	37	7841	c.7664C>A	c.(7663-7665)tCa>tAa	p.S2555*	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2555					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGTTGTGCTTGATAGAGACGC	0.547000													28	150					1.68575e-08	2.17028e-08	1	1	0
ESX1	80712	broad.mit.edu	37	X	103495385	103495385	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:103495385C>G	ENST00000372588.4	-	4	828	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	249	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ataggtggcaCAGGCAGCACA	0.602000													41	86					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071283	240071283	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:240071283G>T	ENST00000255380.4	+	5	1311	c.532G>T	c.(532-534)Gcc>Tcc	p.A178S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	178					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CACGTACCGAGCCAAACGAAC	0.498000													15	100					6.31663e-08	7.92651e-08	1	1	0
PRMT6	55170	broad.mit.edu	37	1	107599959	107599959	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:107599959T>C	ENST00000361318.5	+	1	693	c.445T>C	c.(445-447)Tgg>Cgg	p.W149R	PRMT6_ENST00000370078.1_Missense_Mutation_p.W208R	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	208					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CCTGGGCTTCTGGAGCCAGGT	0.622000													33	90					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56347514	56347514	+	Silent	SNP	T	T	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:56347514T>G	ENST00000370754.5	-	89	21275	c.21276A>C	c.(21274-21276)tcA>tcC	p.S7092S	DST_ENST00000244364.6_Silent_p.S4500S|DST_ENST00000370788.2_Silent_p.S4717S|DST_ENST00000446842.2_Silent_p.S6588S|DST_ENST00000421834.2_Silent_p.S4826S|DST_ENST00000370769.4_Silent_p.S6914S|DST_ENST00000361203.3_Silent_p.S6803S|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6912					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)			GTGTTTGCTTTGATATAGAAA	0.468000													10	92					0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55514938	55514938	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrX:55514938C>A	ENST00000500968.3	-	2	517	c.435G>T	c.(433-435)agG>agT	p.R145S	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	145					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CACGCCAGGCCCTGGGCCGCG	0.786000													13	3					4.3838e-07	5.28514e-07	1	1	0
HTRA1	5654	broad.mit.edu	37	10	124268181	124268181	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:124268181G>T	ENST00000368984.3	+	6	1143	c.1015G>T	c.(1015-1017)Gtg>Ttg	p.V339L		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	339	Serine protease.				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)				GGACGGTGAAGTGATTGGAAT	0.463000													97	46					3.78979e-47	7.36269e-47	1	1	0
PCDH11Y	83259	broad.mit.edu	37	Y	5369235	5369235	+	Silent	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chrY:5369235C>T	ENST00000215473.6	+	3	3267	c.3267C>T	c.(3265-3267)taC>taT	p.Y1089Y				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1089					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGGAGGAGTACTTTGATCGTG	0.532000													21	11					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19552100	19552100	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:19552100A>C	ENST00000396212.2	+	6	2476	c.2040A>C	c.(2038-2040)agA>agC	p.R680S	CCP110_ENST00000396208.2_Missense_Mutation_p.R680S|CCP110_ENST00000381396.5_Missense_Mutation_p.R680S	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	680					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AACAAGAAAGACTGCAAAAGG	0.403000													3	7					0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176831885	176831885	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr5:176831885C>A	ENST00000253496.3	-	7	608	c.560G>T	c.(559-561)gGt>gTt	p.G187V		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	187	EGF-like 2.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TAGGCAGCGACCCCCATGGAG	0.682000									Hereditary Angioedema				4	6					0.00909568	0.0094396	1	1	0
ADAM33	80332	broad.mit.edu	37	20	3651942	3651942	+	Silent	SNP	G	G	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:3651942G>T	ENST00000356518.2	-	18	2275	c.2034C>A	c.(2032-2034)ccC>ccA	p.P678P	ADAM33_ENST00000379861.4_Silent_p.P678P|ADAM33_ENST00000350009.2_Silent_p.P652P|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	678	EGF-like.				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						TGTCACAGAAGGGTGGAGCCC	0.587000													26	91					1.64293e-13	2.44733e-13	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76533554	76533554	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:76533554C>T	ENST00000389840.5	-	19	2810	c.2686G>A	c.(2686-2688)Gct>Act	p.A896T	DNAH17_ENST00000585328.1_Missense_Mutation_p.A893T					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACAGGGGAGCGATACTCTCC	0.577000													17	28					0	0	1	0	0
ZNF436	80818	broad.mit.edu	37	1	23689596	23689596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:23689596delT	ENST00000314011.4	-	4	415	c.279delA	c.(277-279)gafs	p.E94fs	ZNF436_ENST00000374608.3_Frame_Shift_Del_p.E94fs|ZNF436_ENST00000374609.1_Frame_Shift_Del_p.E94fs	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CAAAGCCCTCTTCACTTTCAG	0.438													33	45	---	---	---	---					
COL16A1	1307	broad.mit.edu	37	1	32157112	32157112	+	Splice_Site	DEL	C	C	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:32157112delC	ENST00000373672.3	-	19	1820	c.1302_splice	c.e19-1	p.G435_splice	COL16A1_ENST00000373668.3_Splice_Site_p.G435_splice|COL16A1_ENST00000271069.6_Splice_Site_p.G435_splice	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	435	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCCAGGGTCTCCCTGGCACAG	0.657													21	57	---	---	---	---					
KLF17	128209	broad.mit.edu	37	1	44595814	44595814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:44595814delG	ENST00000372299.3	+	2	929	c.871delG	c.(871-873)gafs	p.G291fs	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	291					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CGAGAACTGCGGAAAAGCTTA	0.577													22	80	---	---	---	---					
LRRC8C	84230	broad.mit.edu	37	1	90178667	90178667	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:90178667delG	ENST00000370454.4	+	3	793	c.538delG	c.(538-540)ggfs	p.G180fs	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	180						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGAAGTGTCTGGGGAGGACTC	0.468													18	53	---	---	---	---					
LOC100129620	100129620	broad.mit.edu	37	1	99473994	99473994	+	RNA	DEL	A	A	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:99473994delA	ENST00000425113.1	+	0	370					NR_033940.1																						AAAAGAAGGCAAGCTTCCTCA	0.403													31	23	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				10	185	---	---	---	---					
CRB1	23418	broad.mit.edu	37	1	197398597	197398597	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:197398597delG	ENST00000367397.1	+	4	1696	c.838delG	c.(838-840)gafs	p.G281fs	CRB1_ENST00000367399.2_Frame_Shift_Del_p.G788fs|CRB1_ENST00000367400.3_Frame_Shift_Del_p.G900fs|CRB1_ENST00000535699.1_Frame_Shift_Del_p.G876fs|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Frame_Shift_Del_p.G381fs			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	900	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGTCACAATGGAGGTGTTTG	0.473													56	153	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237947603	237947603	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr1:237947603delC	ENST00000366574.2	+	90	12908	c.12591delC	c.(12589-12591)atfs	p.I4197fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.I4203fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.I4181fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4197					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)			AGGACACCATCTTTGAAATGC	0.512													27	91	---	---	---	---					
NGLY1	55768	broad.mit.edu	37	3	25775366	25775366	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr3:25775366delC	ENST00000428257.1	-	8	1310	c.1203delG	c.(1201-1203)aafs	p.K401fs	NGLY1_ENST00000396649.3_Frame_Shift_Del_p.K419fs|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000280700.5_Frame_Shift_Del_p.K419fs|NGLY1_ENST00000417874.2_Frame_Shift_Del_p.K377fs	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	419					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ACCATACCTGCTTATTAAGCC	0.358													7	17	---	---	---	---					
UVSSA	57654	broad.mit.edu	37	4	1369156	1369156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:1369156delG	ENST00000389851.4	+	9	1740	c.1293delG	c.(1291-1293)ctfs	p.L431fs	UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000511216.1_Frame_Shift_Del_p.L431fs|UVSSA_ENST00000507531.1_Frame_Shift_Del_p.L431fs|UVSSA_ENST00000512728.1_5'UTR	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	431																	TTTCAGGGCTGGAGGCAGCAC	0.632													41	103	---	---	---	---					
CLNK	116449	broad.mit.edu	37	4	10542187	10542187	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr4:10542187delG	ENST00000226951.6	-	11	772	c.533delC	c.(532-534)ctfs	p.P178fs	CLNK_ENST00000507719.1_Frame_Shift_Del_p.P136fs|CLNK_ENST00000442825.2_Frame_Shift_Del_p.P136fs	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	178	Mediates interaction with LAT and GRB2 (By similarity).|Pro-rich.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CTCCGGCTCAGGGGGCAAGGG	0.527													16	42	---	---	---	---					
BMP6	654	broad.mit.edu	37	6	7727509	7727517	+	In_Frame_Del	DEL	CCGGCAGCA	CCGGCAGCA	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:7727509_7727517delCCGGCAGCA	ENST00000283147.6	+	1	480_488	c.321_329delCCGGCAGCA	c.(319-330)ctg>ct	p.LRQQ107del		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	107					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCCCGGCGCTCCGgcagcaggaggagcag	0.703													9	24	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1																						GGACTAGGAGAAAAAAAGGTA	0.517													7	50	---	---	---	---					
KHDRBS2	202559	broad.mit.edu	37	6	62407118	62407118	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:62407118delC	ENST00000281156.4	-	8	1212	c.934delG	c.(934-936)atfs	p.D312fs		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCATAGGCATCCTCACTTACT	0.383													15	26	---	---	---	---					
PDE10A	10846	broad.mit.edu	37	6	165809859	165809859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr6:165809859delC	ENST00000366882.1	-	15	1492	c.1338delG	c.(1336-1338)tgfs	p.W446fs	PDE10A_ENST00000354448.4_Frame_Shift_Del_p.W446fs|PDE10A_ENST00000539869.2_Frame_Shift_Del_p.W456fs			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	446					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGAGACCTTGCCACTCTTCTG	0.418													35	71	---	---	---	---					
FAM66D	100132923	broad.mit.edu	37	8	11991515	11991515	+	RNA	DEL	C	C	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:11991515delC	ENST00000434078.2	+	0	608					NR_027425.1																						GAGTCGTCTTCCATGTCGCCC	0.498													28	172	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113318340	113318340	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr8:113318340delT	ENST00000297405.5	-	51	8211	c.7967delA	c.(7966-7968)ttfs	p.Y2656fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.Y2552fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.Y2616fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.Y2586fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2656	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTACAAAAATAGGTAACTCG	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	51	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139390945	139390947	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr9:139390945_139390947delGTG	ENST00000277541.6	-	34	7319_7321	c.7244_7246delCAC	c.(7243-7248)cag>c	p.PQ2415del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2415	Poly-Pro.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.Q2417*(2)|p.P2416fs*11(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCGGCTGTGGTGGTGGTGG	0.650			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	82	---	---	---	---					
SEC23IP	11196	broad.mit.edu	37	10	121668587	121668587	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr10:121668587delG	ENST00000369075.3	+	5	1208	c.1136delG	c.(1135-1137)tgfs	p.W379fs	SEC23IP_ENST00000543134.1_Frame_Shift_Del_p.W168fs	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	379					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACTAATCAGTGGCACCGAAGA	0.338													27	13	---	---	---	---					
RP11-945A11.1	0	broad.mit.edu	37	11	23811866	23811866	+	RNA	DEL	G	G	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:23811866delG	ENST00000534068.1	+	0	358				RP11-945A11.2_ENST00000525512.1_lincRNA																							ACTCACTCCTGGGAGAAGCCT	0.493													6	2	---	---	---	---					
OR5M10	390167	broad.mit.edu	37	11	56344468	56344468	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:56344468delG	ENST00000526812.2	-	1	795	c.730delC	c.(730-732)acfs	p.H244fs		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATTGTCAGGTGGGAAGCACAC	0.438													21	66	---	---	---	---					
MED17	9440	broad.mit.edu	37	11	93545075	93545076	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:93545075_93545076delTG	ENST00000251871.3	+	12	2088_2089	c.1801_1802delTG	c.(1801-1803)tfs	p.C601fs		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	601					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCGTAACCAATGTAAAGACCTT	0.371													32	54	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs35342965	by1000genomes	TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													4	8	---	---	---	---					
LOC642426	642426	broad.mit.edu	37	14	19408187	19408187	+	RNA	DEL	C	C	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:19408187delC	ENST00000548050.1	-	0	279					NR_046104.1																						GCTACCTTGTCCCTGTTACCT	0.403													3	4	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	33291670	33291671	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:33291670_33291671insC	ENST00000280979.4	+	13	4821_4822	c.4651_4652insC	c.(4651-4653)tggfs	p.W1551fs	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1551					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)		AAAGACATTCACTGGCATGCAG	0.401													14	89	---	---	---	---					
PLEKHH1	57475	broad.mit.edu	37	14	68029533	68029533	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr14:68029533delG	ENST00000329153.5	+	7	1317	c.1185delG	c.(1183-1185)aafs	p.K395fs		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	395						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGAGCCCAAAGGCCCTTGGAG	0.602													19	40	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	33822840	33822841	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:33822840_33822841delTC	ENST00000389232.4	+	4	397_398	c.327_328delTC	c.(325-330)gttcfs	p.VL109fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.VL109fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	109	MIR 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCATGCAGTTCTCCTGAGGCA	0.530													10	20	---	---	---	---					
NDUFAF1	51103	broad.mit.edu	37	15	41689187	41689187	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:41689187delA	ENST00000260361.4	-	2	452	c.71delT	c.(70-72)tgfs	p.L24fs		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	24					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		AAATGGATACAAGGCAGAAGT	0.413													16	40	---	---	---	---					
MAP1A	4130	broad.mit.edu	37	15	43816308	43816322	+	In_Frame_Del	DEL	TACTGAAGCTACGCA	TACTGAAGCTACGCA	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:43816308_43816322delTACTGAAGCTACGCA	ENST00000382031.1	+	5	3382_3396	c.3351_3365delTACTGAAGCTACGCA	c.(3349-3366)cgg>cg	p.RTEATQ1117del	MAP1A_ENST00000399453.1_In_Frame_Del_p.RTEATQ879del|MAP1A_ENST00000300231.5_In_Frame_Del_p.RTEATQ879del			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	879						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTTCCTCCCGTACTGAAGCTACGCAGGGCTTGGAC	0.553													8	32	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													3	5	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102306788	102306790	+	RNA	DEL	GTA	GTA	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr15:102306788_102306790delGTA	ENST00000561463.1	+	0	13180																											TTAGTCTGTTGTAGTGGTGAGCT	0.507													2	4	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30732218	30732218	+	Frame_Shift_Del	DEL	C	C	-	rs145506785		TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr16:30732218delC	ENST00000262518.4	+	20	3557	c.3172delC	c.(3172-3174)ccfs	p.P1059fs	SRCAP_ENST00000344771.4_Frame_Shift_Del_p.P1059fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.P1059fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1059	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACCTGCCGGGCCCCCGCTTAT	0.642													43	87	---	---	---	---					
GGNBP2	79893	broad.mit.edu	37	17	34901690	34901691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:34901690_34901691insC	ENST00000485685.2	+	2	409_410	c.117_118insC	c.(115-120)ggccgcfs	p.R40fs	GGNBP2_ENST00000304718.4_Intron			Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	0					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gccgggctgggcccgccgcTCC	0.678													3	4	---	---	---	---					
UTS2R	2837	broad.mit.edu	37	17	80332563	80332563	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr17:80332563delG	ENST00000313135.2	+	1	411	c.363delG	c.(361-363)gtfs	p.V121fs		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	121						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TCGGGGACGTGGGCTGCCGCG	0.647													28	44	---	---	---	---					
SALL3	27164	broad.mit.edu	37	18	76753939	76753939	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr18:76753939delG	ENST00000536229.3	+	1	2258	c.1549delG	c.(1549-1551)ggfs	p.G518fs	SALL3_ENST00000537592.2_Frame_Shift_Del_p.G651fs|SALL3_ENST00000575389.2_Frame_Shift_Del_p.G651fs			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	651					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)		GTTTCCGTTCGGGGGGCTGCT	0.642													12	12	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1207139	1207139	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:1207139delC	ENST00000326873.7	+	1	1400	c.227delC	c.(226-228)gcfs	p.A76fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	76	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCAGGAGGGCCGTCAAGATC	0.617		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			21	5	---	---	---	---					
FUT5	2527	broad.mit.edu	37	19	5867601	5867601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:5867601delT	ENST00000252675.5	-	5	698	c.136delA	c.(136-138)ggfs	p.R46fs	FUT5_ENST00000588525.1_Frame_Shift_Del_p.R46fs			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	46					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGCCCTGGCCTAGGGGATCCA	0.647													16	71	---	---	---	---					
LIPE-AS1	100996307	broad.mit.edu	37	19	43124172	43124172	+	RNA	DEL	G	G	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr19:43124172delG	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1																						ATAAAGACCAGGGAGAAGACC	0.453													3	4	---	---	---	---					
C20orf24	55969	broad.mit.edu	37	20	35236124	35236124	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:35236124delT	ENST00000344795.3	+	2	339	c.121delT	c.(121-123)ttfs	p.F41fs	C20orf24_ENST00000373852.5_Frame_Shift_Del_p.F41fs|TGIF2-C20orf24_ENST00000558530.1_Frame_Shift_Del_p.F67fs|C20orf24_ENST00000342422.3_Frame_Shift_Del_p.F41fs	NM_001199534.1|NM_018840.4	NP_001186463.1|NP_061328.1			chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				ACAGGATGAATTTTTAGATGT	0.428													12	64	---	---	---	---					
SRMS	6725	broad.mit.edu	37	20	62172679	62172680	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr20:62172679_62172680insG	ENST00000217188.1	-	7	1189_1190	c.1149_1150insC	c.(1147-1152)aggcagfs	p.RQ383fs		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	383	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TTGGAGCTGCTGCTCGGGGAGT	0.658													66	288	---	---	---	---					
APP	351	broad.mit.edu	37	21	27348320	27348320	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8507-01A-11D-2393-08	TCGA-55-8507-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f80e586-a01e-4500-8669-3ab11653306a	685bf1a3-c398-458d-9906-7251883d89dd	g.chr21:27348320delC	ENST00000358918.3	-	10	1445	c.1246delG	c.(1246-1248)cafs	p.A416fs	APP_ENST00000448388.2_Frame_Shift_Del_p.A306fs|APP_ENST00000346798.3_Frame_Shift_Del_p.A416fs|APP_ENST00000357903.3_Frame_Shift_Del_p.A397fs|APP_ENST00000359726.3_Frame_Shift_Del_p.A360fs|APP_ENST00000439274.2_Frame_Shift_Del_p.A360fs|APP_ENST00000354192.3_Frame_Shift_Del_p.A285fs|APP_ENST00000348990.5_Frame_Shift_Del_p.A341fs|APP_ENST00000440126.3_Frame_Shift_Del_p.A392fs	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	416	Heparin-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGACGTTCTGCCTCTTCCCAT	0.378													8	33	---	---	---	---					
