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
FSHR	2492	broad.mit.edu	37	2	49190018	49190018	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:49190018C>T	ENST00000406846.2	-	10	2061	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	FSHR_ENST00000304421.4_Missense_Mutation_p.E622K|FSHR_ENST00000541117.1_Missense_Mutation_p.E384K|FSHR_ENST00000346173.3_Missense_Mutation_p.E586K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	648					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GCTTGCATTTCATAGCAGCCA	0.483000									Gonadal Dysgenesis, 46 XX				8	17					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873142	36873142	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:36873142C>T	ENST00000429976.2	-	21	8047	c.7800G>A	c.(7798-7800)atG>atA	p.M2600I	TRANK1_ENST00000428977.2_Missense_Mutation_p.M2050I|TRANK1_ENST00000301807.6_Missense_Mutation_p.M2050I			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2600					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTCACAGTCCATTAGGTACT	0.557000													6	21					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62793412	62793412	+	RNA	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:62793412G>A	ENST00000582986.1	-	0	1918					NR_024386.1																						AGTTGTGGATGATCCTGGCCG	0.577000													5	20					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949342	27949342	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:27949342G>A	ENST00000379992.2	-	6	1777	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	LINGO2_ENST00000308675.3_Missense_Mutation_p.S443F	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	443	Ig-like C2-type.					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)		TGTCACCCAGGAAATCACAGG	0.532000													15	26					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88717135	88717135	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:88717135C>T	ENST00000372027.4	-	1	237	c.164_splice	c.e1+1	p.R55_splice		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	55	EMI.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCCCTCTTACCGTCCTACGGG	0.607000													39	57					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39658952	39658952	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:39658952G>A	ENST00000246635.3	-	5	1056	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	KRT13_ENST00000336861.3_Missense_Mutation_p.S337F|KRT13_ENST00000587544.1_Missense_Mutation_p.S337F	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	337	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCTCAGCTGGGACTGCAGCTC	0.587000													43	80					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104943612	104943612	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:104943612C>T	ENST00000507740.1	+	9	1978	c.1742C>T	c.(1741-1743)cCa>cTa	p.P581L	RIMS2_ENST00000262231.10_Missense_Mutation_p.P628L|RIMS2_ENST00000406091.3_Missense_Mutation_p.P789L|RIMS2_ENST00000436393.2_Missense_Mutation_p.P567L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	851					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)			TACTTTCTTCCAGACAGAAGG	0.333000										HNSCC(12;0.0054)			5	27					0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261274	49261274	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:49261274C>T	ENST00000593756.1	+	4	999	c.427C>T	c.(427-429)Ccg>Tcg	p.P143S	FGF21_ENST00000222157.3_Missense_Mutation_p.P143S			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	143					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCACGGCCTCCCGCTGCACCT	0.642000													39	81					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646609	4646609	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:4646609G>A	ENST00000433935.1	+	6	1213	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	ZMYND15_ENST00000269289.6_Missense_Mutation_p.E386K|ZMYND15_ENST00000573751.2_Missense_Mutation_p.E386K|ZMYND15_ENST00000592813.1_Missense_Mutation_p.E386K	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	386							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGTGACCAGTGAAACCTTCAA	0.542000													61	100					0	0	1	0	0
TRAV16	28667	broad.mit.edu	37	14	22458764	22458764	+	RNA	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:22458764G>A	ENST00000390444.1	+	0	30																											CAGTGCTTGTGATAATATTTA	0.368000													12	4					0	0	1	0	0
SMCO3	440087	broad.mit.edu	37	12	14959305	14959305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:14959305C>A	ENST00000316048.2	-	2	382	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		GTTTCCTTTTCCTTAATATCC	0.408000													20	36					3.73194e-20	3.82642e-20	1	1	0
CR1	1378	broad.mit.edu	37	1	207753659	207753659	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:207753659G>A	ENST00000367049.4	+	30	5011	c.5011G>A	c.(5011-5013)Gaa>Aaa	p.E1671K	CR1_ENST00000367051.1_Missense_Mutation_p.E1221K|CR1_ENST00000367052.1_Missense_Mutation_p.E1221K|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.E1221K|CR1_ENST00000400960.2_Missense_Mutation_p.E1221K	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1221	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACCTGGGCAGGAAGTGTTCTA	0.577000													38	116					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805092	54805092	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:54805092C>T	ENST00000306858.7	+	5	1439	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	441										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACACACCTGCCCAGAGTTTTG	0.458000													8	20					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55406588	55406588	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:55406588G>A	ENST00000398661.2	-	4	457	c.326C>T	c.(325-327)tCc>tTc	p.S109F	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.S79F|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.S79F|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.S79F|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.S79F|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.S79F	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	109							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.S109F(1)		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)			GCCAGTTTGGGAAAGTCGATT	0.313000													13	32					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648954	169648954	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:169648954C>T	ENST00000366787.3	-	4	416	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	56	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCGCACGAAGCGGTAAGCCGG	0.587000													14	25					0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51968672	51968672	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:51968672G>A	ENST00000232888.6	-	12	1228	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	385					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CTGTGTTGAGGAGGGCTGCCA	0.662000													48	43					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61432545	61432545	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:61432545G>A	ENST00000395348.3	-	3	959	c.323C>T	c.(322-324)tCc>tTc	p.S108F	SLC16A9_ENST00000395347.1_Missense_Mutation_p.S108F	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	108					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.S108fs*26(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AATGCCATAGGAAAAAAACAG	0.428000													4	37					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282949	5282949	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:5282949G>A	ENST00000546004.1	-	3	1138	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	PROKR2_ENST00000217270.3_Missense_Mutation_p.R298C			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	298						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R298C(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAGAAGTCACGAACGATGGTG	0.562000										HNSCC(71;0.22)			14	43					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850524	40850524	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:40850524A>G	ENST00000255224.3	-	4	1428	c.1060T>C	c.(1060-1062)Ttc>Ctc	p.F354L	SYT4_ENST00000590752.1_Missense_Mutation_p.F336L|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	354	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGCTCATTGAACACTGCATTG	0.423000													22	30					0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153752344	153752344	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:153752344C>T	ENST00000271857.2	+	10	3062	c.2302C>T	c.(2302-2304)Cgg>Tgg	p.R768W	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.R687W			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	687					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGAAAGTTCGGATGGCAAA	0.592000													34	22					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11657690	11657690	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:11657690G>A	ENST00000592923.1	+	5	723	c.146G>A	c.(145-147)gGg>gAg	p.G49E	CNN1_ENST00000535659.2_Missense_Mutation_p.G49E|CNN1_ENST00000252456.2_Missense_Mutation_p.G99E|CNN1_ENST00000544952.1_Missense_Mutation_p.G79E			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	99	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						ACCAAGTATGGGGTGAAGCCC	0.582000													26	36					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788276	140788276	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:140788276T>A	ENST00000520790.1	+	1	507	c.507T>A	c.(505-507)gaT>gaA	p.D169E	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATTAAAGATTATAAGATAA	0.378000													10	9					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99441030	99441030	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:99441030C>T	ENST00000287042.4	+	2	1173	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	KCNS2_ENST00000521839.1_Silent_p.L275L	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	275						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TTACATCACTCTGGTGGTGAA	0.537000													129	45					0	0	1	0	0
TAS2R20	259295	broad.mit.edu	37	12	11149991	11149991	+	Missense_Mutation	SNP	C	C	T	rs139620901	byFrequency	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:11149991C>T	ENST00000538986.1	-	1	483	c.484G>A	c.(484-486)Gta>Ata	p.V162I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	162					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TTCCAAGTTACGTTTCCTTCA	0.403000													6	82					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188241	32188241	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:32188241C>T	ENST00000375023.3	-	6	1238	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	367	EGF-like 9; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCAGGTGGATCCCGGGGCACA	0.597000													52	121					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784826	140784826	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:140784826C>T	ENST00000573521.1	+	1	2307	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACCTGATCTTCCCCCAGC	0.502000													24	46					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13920625	13920625	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:13920625C>T	ENST00000265104.4	-	6	866	c.762G>A	c.(760-762)gaG>gaA	p.E254E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	254	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)					TCATGCAATCCTCTATTTTTC	0.398000									Kartagener syndrome				28	35					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152443613	152443613	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:152443613G>A	ENST00000367255.5	-	146	26953	c.26352C>T	c.(26350-26352)ttC>ttT	p.F8784F	SYNE1_ENST00000356820.4_Silent_p.F3308F|SYNE1_ENST00000265368.4_Silent_p.F8784F|SYNE1_ENST00000341594.5_Silent_p.F8396F|SYNE1_ENST00000354674.4_Silent_p.F962F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Silent_p.F8736F|SYNE1_ENST00000539504.1_Silent_p.F939F|ESR1_ENST00000544394.1_Intron|SYNE1_ENST00000448038.1_Silent_p.F8736F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8784	KASH.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATGGGGTGGAATGACCGGG	0.537000										HNSCC(10;0.0054)			13	31					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184379	130184379	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:130184379G>A	ENST00000422113.2	-	2	1270	c.944C>T	c.(943-945)tCc>tTc	p.S315F		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	315						integral to membrane		p.S315C(1)		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)		ATCTTCAGTGGAATTTCTGGA	0.493000													14	14					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46880825	46880825	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:46880825G>A	ENST00000378623.1	-	38	5669	c.5427C>T	c.(5425-5427)atC>atT	p.I1809I	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1809					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTCCCTCTACGATCTTGATCT	0.552000													21	38					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70719967	70719967	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:70719967G>T	ENST00000226444.3	-	4	449	c.337C>A	c.(337-339)Ctt>Att	p.L113I		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	113					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						GAGGCAGGAAGAAGTTCAGGT	0.353000													9	22					3.07112e-06	3.095e-06	1	1	0
KIAA0319	9856	broad.mit.edu	37	6	24596495	24596495	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:24596495T>A	ENST00000535378.1	-	4	1022	c.380A>T	c.(379-381)gAt>gTt	p.D127V	KIAA0319_ENST00000430948.2_Missense_Mutation_p.D91V|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D136V|KIAA0319_ENST00000378214.3_Missense_Mutation_p.D136V|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D136V	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	136					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTTCTGATATCCTCAGGTGA	0.567000													14	69					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439623	150439623	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:150439623G>A	ENST00000358647.3	+	3	763	c.396G>A	c.(394-396)agG>agA	p.R132R	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCCATCAGGAAGGTGAAAG	0.592000													34	47					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27480565	27480565	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:27480565C>A	ENST00000263980.3	-	1	836	c.261G>T	c.(259-261)aaG>aaT	p.K87N	SLC9A1_ENST00000545949.1_De_novo_Start_InFrame|SLC9A1_ENST00000374086.3_Missense_Mutation_p.K87N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	87					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CTGGAAAGGCCTTGCGCGGCT	0.587000													34	61					2.08457e-15	2.1239e-15	1	1	0
PRDM15	63977	broad.mit.edu	37	21	43241437	43241437	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:43241437G>C	ENST00000422911.1	-	17	2318	c.2217C>G	c.(2215-2217)gaC>gaG	p.D739E	PRDM15_ENST00000398548.1_Missense_Mutation_p.D719E|PRDM15_ENST00000269844.3_Missense_Mutation_p.D1048E|PRDM15_ENST00000447207.2_Missense_Mutation_p.D682E|PRDM15_ENST00000538201.1_Missense_Mutation_p.D702E			P57071	PRD15_HUMAN	PR domain containing 15	1048					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCACGTTGGGGTCCGGCAGGT	0.587000													37	64					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624743	624743	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:624743C>T	ENST00000321878.5	+	2	828	c.669C>T	c.(667-669)gtC>gtT	p.V223V	PIGQ_ENST00000026218.5_Silent_p.V223V|PIGQ_ENST00000470411.2_Silent_p.V223V|PIGQ_ENST00000409527.2_Silent_p.V223V	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	223	Leu-rich.				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)				TGTCGCTGGTCTCAGCTGTCA	0.662000													5	18					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127122	146127122	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:146127122G>A	ENST00000237281.4	-	2	586	c.420C>T	c.(418-420)acC>acT	p.T140T		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	140							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)		TTGACATCATGGTGGCTACTT	0.403000													31	42					0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037960	48037960	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:48037960G>C	ENST00000295461.5	+	6	1070	c.1004G>C	c.(1003-1005)gGa>gCa	p.G335A		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	335						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ATGACAGCTGGAGATATCATT	0.398000													21	34					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21108970	21108970	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:21108970G>A	ENST00000320704.3	-	1	880	c.881C>T	c.(880-882)gCc>gTc	p.A294V		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		ATTACGTAAGGCATAGATGAA	0.443000													38	57					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6912891	6912891	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:6912891G>A	ENST00000299459.2	-	1	939	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTAAGCATGGGAGTCACTATT	0.428000													11	17					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	75					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105282900	105282900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:105282900C>T	ENST00000258538.3	-	4	918	c.791G>A	c.(790-792)tGg>tAg	p.W264*		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	264						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTCTGGAATCCAGCCCAATAT	0.383000													16	22					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43674267	43674267	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:43674267G>A	ENST00000599812.1	-	6	1362	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	PSG5_ENST00000366175.3_Missense_Mutation_p.P330S|PSG5_ENST00000407568.1_Missense_Mutation_p.P152S|PSG5_ENST00000342951.6_Missense_Mutation_p.P330S|PSG5_ENST00000407356.1_Missense_Mutation_p.P330S			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	330					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTAAGGAGAGGAAGACGTCCT	0.448000													21	39					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			34	38					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7724582	7724582	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:7724582C>T	ENST00000572933.1	+	73	12497	c.11037C>T	c.(11035-11037)ttC>ttT	p.F3679F	DNAH2_ENST00000389173.2_Silent_p.F3679F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3679					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)				GTACCCTTTTCGAACGCCACA	0.493000													22	45					0	0	1	0	0
ACYP1	97	broad.mit.edu	37	14	75530213	75530213	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:75530213A>C	ENST00000555463.1	-	2	325	c.134T>G	c.(133-135)tTt>tGt	p.F45C	ACYP1_ENST00000555694.1_Missense_Mutation_p.F15C|ACYP1_ENST00000555135.1_Missense_Mutation_p.F15C|ACYP1_ENST00000357971.3_Missense_Mutation_p.F15C|ACYP1_ENST00000238618.3_Missense_Mutation_p.F15C|ACYP1_ENST00000553302.1_Missense_Mutation_p.F15C			P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	15	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		CACCTTCCCAAAAATTTCATA	0.483000													9	16					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445429	87445429	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:87445429G>A	ENST00000268616.4	-	12	2704	c.2487C>T	c.(2485-2487)ccC>ccT	p.P829P		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	829					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGCTGCACATGGGACTGAAGG	0.662000													7	7					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371808	240371808	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:240371808C>T	ENST00000319653.9	+	5	3926	c.3696C>T	c.(3694-3696)atC>atT	p.I1232I		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1232	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGACAGGAATCCCACCGCCCC	0.612000													13	9					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223002	44223002	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:44223002C>T	ENST00000244314.5	+	2	491	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	98						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCAACCGTCGCCCTATCCACA	0.652000													25	28					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84804416	84804416	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:84804416C>T	ENST00000389394.3	+	13	2097	c.1960C>T	c.(1960-1962)Cac>Tac	p.H654Y	DNAH6_ENST00000237449.6_Missense_Mutation_p.H654Y|DNAH6_ENST00000398278.2_Missense_Mutation_p.H654Y	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	654	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGAAAAATATCACAAACAGCA	0.323000													4	11					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31418959	31418959	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:31418959G>A	ENST00000389202.2	+	8	877	c.828G>A	c.(826-828)gaG>gaA	p.E276E		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	276	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCAGGCAGAGAAGGCTGGCA	0.572000													10	28					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184073219	184073219	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:184073219G>A	ENST00000265593.4	-	12	1440	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	CLCN2_ENST00000457512.1_Silent_p.A423A|CLCN2_ENST00000344937.7_Silent_p.A423A|CLCN2_ENST00000475279.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_Silent_p.A64A|CLCN2_ENST00000434054.2_Silent_p.A379A	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	423						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTGGGTTCCAGGCCTGTGAGG	0.567000													14	10					0	0	1	0	0
B3GAT2	135152	broad.mit.edu	37	6	71665808	71665808	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:71665808C>T	ENST00000230053.6	-	1	933	c.325G>A	c.(325-327)Gcg>Acg	p.A109T		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	109					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGCAGCTGCGCCACCTGGCGG	0.711000													7	13					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811248	5811248	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:5811248G>A	ENST00000381095.3	-	6	2688	c.2061C>T	c.(2059-2061)ttC>ttT	p.F687F	NLGN4X_ENST00000538097.1_Silent_p.F687F|NLGN4X_ENST00000275857.6_Silent_p.F687F|NLGN4X_ENST00000381092.1_Silent_p.F687F|NLGN4X_ENST00000381093.2_Silent_p.F707F	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	687					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGATGTTGAGGAAGAGGAGCG	0.507000													30	9					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236500	33236500	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:33236500C>A	ENST00000401073.2	+	6	1790	c.1720C>A	c.(1720-1722)Cca>Aca	p.P574T	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P515T|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P526T	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	515	Pro-rich.									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)				CCCACGGTCCCCAGAACGGAC	0.672000													13	11					9.31168e-06	9.36952e-06	1	1	0
OR5B12	390191	broad.mit.edu	37	11	58207445	58207445	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:58207445G>A	ENST00000302572.2	-	1	201	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTTACTGAGGAAGAAGTACA	0.458000													10	20					0	0	1	0	0
HACL1	26061	broad.mit.edu	37	3	15631096	15631096	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:15631096G>A	ENST00000321169.5	-	5	699	c.332C>T	c.(331-333)tCc>tTc	p.S111F	HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.S111F|HACL1_ENST00000456194.2_Missense_Mutation_p.S84F|HACL1_ENST00000451445.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	111					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TCTTTCAGAGGAACCACCAAT	0.323000													39	84					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	C	T	rs149614119	by1000genomes	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:143747706C>T	ENST00000408906.2	+	1	246	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000													22	37					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45381726	45381726	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:45381726C>T	ENST00000252485.4	+	6	1640	c.1289C>T	c.(1288-1290)cCc>cTc	p.P430L	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	484					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTCCCTGGTCCCATGGAACCA	0.592000													5	8					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186643772	186643772	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:186643772C>T	ENST00000367468.5	-	10	1664	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	510					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GCTCCAACTTCTACCATGGTT	0.478000													27	27					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611578	42611578	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:42611578G>A	ENST00000276410.2	-	5	1119	c.764C>T	c.(763-765)tCa>tTa	p.S255L	CHRNA6_ENST00000534622.1_Missense_Mutation_p.S240L	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	255						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGTTAGAAATGAAATAAAGAG	0.378000													14	9					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17255700	17255700	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:17255700G>A	ENST00000253692.7	-	18	3415	c.1752_splice	c.e18+1	p.S584_splice	TBC1D5_ENST00000446818.2_Splice_Site_p.S606_splice|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Splice_Site_p.S558_splice|TBC1D5_ENST00000429383.4_Splice_Site_p.S584_splice	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	584						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						AATACTTACAGATTCTTTTCT	0.383000													13	10					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724851	158724851	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:158724851C>T	ENST00000368144.2	+	1	342	c.246C>T	c.(244-246)gcC>gcT	p.A82A		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGGGCATGGCCCTGCACACCC	0.463000													37	108					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63511135	63511135	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:63511135C>T	ENST00000536984.2	+	7	1763	c.1069C>T	c.(1069-1071)Ccg>Tcg	p.P357S	CDH7_ENST00000323011.3_Missense_Mutation_p.P357S|CDH7_ENST00000397968.2_Missense_Mutation_p.P357S			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGCTTGGGTCCGTTCAGTGA	0.473000													27	28					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997320	19997320	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:19997320G>A	ENST00000391403.2	-	1	558	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	152						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGATTTGAGGGATTTTGACTC	0.353000													23	44					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596497	24596497	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:24596497C>T	ENST00000535378.1	-	4	1020	c.378G>A	c.(376-378)gaG>gaA	p.E126E	KIAA0319_ENST00000430948.2_Silent_p.E90E|KIAA0319_ENST00000543707.1_Silent_p.E135E|KIAA0319_ENST00000378214.3_Silent_p.E135E|KIAA0319_ENST00000537886.1_Silent_p.E135E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	135					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTCTGATATCCTCAGGTGAGT	0.567000													14	72					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38957941	38957941	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:38957941G>A	ENST00000359357.3	+	86	12810	c.12556G>A	c.(12556-12558)Gat>Aat	p.D4186N	DNAH8_ENST00000441566.1_Missense_Mutation_p.D4150N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCTAATGCTGATATCACGTA	0.408000													49	127					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84563207	84563207	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:84563207C>T	ENST00000262753.4	-	10	1118	c.973G>A	c.(973-975)Gat>Aat	p.D325N	POF1B_ENST00000373145.3_Missense_Mutation_p.D325N	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	325							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGTGACTTATCAGACATACCC	0.343000													7	4					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126125273	126125273	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:126125273C>T	ENST00000373631.3	+	2	225	c.224C>T	c.(223-225)cCa>cTa	p.P75L	CRB2_ENST00000359999.3_Missense_Mutation_p.P75L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	75	EGF-like 1.					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						GCCACCCAGCCATGCCACCAC	0.692000													28	27					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465388	77465388	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:77465388C>T	ENST00000282849.5	-	3	717	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	100					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						TGCTGAAAATCGGTAGTGCAG	0.473000													67	113					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14868835	14868835	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:14868835C>T	ENST00000380881.4	-	3	956	c.141G>A	c.(139-141)ctG>ctA	p.L47L	FREM1_ENST00000380880.3_Silent_p.L47L|FREM1_ENST00000422223.2_Silent_p.L47L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	47					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)		TGGCAAACTTCAGGTCATCTC	0.552000													4	3					0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764519	109764519	+	RNA	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:109764519G>A	ENST00000602699.1	+	0	980					NR_002718.2																						TTTGGCCCCAGGAGGAGCCTG	0.567000													16	1					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50530945	50530945	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:50530945C>T	ENST00000444124.2	-	14	1627	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	DDC_ENST00000357936.5_Missense_Mutation_p.R476Q|DDC_ENST00000426377.1_Missense_Mutation_p.R398Q|DDC_ENST00000431062.1_Missense_Mutation_p.R383Q	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	476					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCTCTCTGCTCGCAGCACGTC	0.597000													3	8					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155239494	155239494	+	Missense_Mutation	SNP	G	G	A	rs146292560	by1000genomes	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:155239494G>A	ENST00000368361.4	-	3	499	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	CLK2_ENST00000355560.4_Missense_Mutation_p.R61C|CLK2_ENST00000361168.5_Missense_Mutation_p.R62C|CLK2_ENST00000536801.1_Missense_Mutation_p.R62C			P49760	CLK2_HUMAN	CDC-like kinase 2	62						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGGACGAACGATCATCATAA	0.498000								Other conserved DNA damage response genes					40	103					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137271863	137271863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:137271863G>A	ENST00000453654.1	-	13	1044	c.505C>T	c.(505-507)Cga>Tga	p.R169*	DGKI_ENST00000288490.5_Nonsense_Mutation_p.R469*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.R469*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.R469*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	469					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTGAGAGTTCGAGCCAGGTCA	0.552000													22	30					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579578	55579578	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:55579578G>A	ENST00000333973.2	+	1	725	c.636G>A	c.(634-636)atG>atA	p.M212I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M212I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTACCATCATGATCATCCTCA	0.502000													41	45					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160115038	160115038	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:160115038C>T	ENST00000327245.5	-	5	890	c.44G>A	c.(43-45)aGa>aAa	p.R15K	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	15					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTCTGACTCTCCACTGCCA	0.547000													37	4					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076256	87076256	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:87076256C>T	ENST00000276616.2	-	2	864	c.790G>A	c.(790-792)Gat>Aat	p.D264N		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	264	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TGGCTTTCATCATCAAAAGGC	0.398000													13	61					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8499713	8499713	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:8499713C>T	ENST00000381196.4	-	22	2799	c.2256G>A	c.(2254-2256)gtG>gtA	p.V752V	PTPRD_ENST00000540109.1_Silent_p.V752V|PTPRD_ENST00000360074.4_Silent_p.V739V|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Silent_p.V739V|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.V752V|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	752	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTCCATCCTCACATAATGCA	0.473000										TSP Lung(15;0.13)			14	42					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900640	46900640	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:46900640C>T	ENST00000359759.4	+	12	2745	c.2724C>T	c.(2722-2724)ccC>ccT	p.P908P	COL18A1_ENST00000355480.5_Silent_p.P673P|COL18A1_ENST00000400337.2_Silent_p.P493P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	908	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGACCTCCCGGACCCCCCG	0.701000													3	53					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22653927	22653927	+	Silent	SNP	T	T	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:22653927T>A	ENST00000376603.2	+	3	637	c.495T>A	c.(493-495)gtT>gtA	p.V165V	SPAG6_ENST00000538630.1_Silent_p.V64V|SPAG6_ENST00000376601.1_Silent_p.V89V|SPAG6_ENST00000376624.3_Silent_p.V89V|SPAG6_ENST00000313311.6_Silent_p.V89V|RP11-301N24.3_ENST00000422675.1_RNA			O75602	SPAG6_HUMAN	sperm associated antigen 6	89					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CACAGCTTGTTTATTCATTGG	0.353000													9	22					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92488016	92488016	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:92488016G>A	ENST00000267622.4	-	4	845	c.472C>T	c.(472-474)Cat>Tat	p.H158Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	158					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCATCGTCATGGAAAGCTGAA	0.438000			T	PDGFRB	AML								9	17					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308943	248308943	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:248308943C>T	ENST00000366476.1	+	1	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S165F(1)		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)			GCGACATTTTCCTTCTCCTAC	0.443000													57	178					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351271	40351271	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:40351271C>T	ENST00000310169.2	+	4	877	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	246					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	ACCTCCTCATCCCATGCGTCC	0.522000													127	241					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808815	8808815	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:8808815C>T	ENST00000324436.3	-	1	357	c.237G>A	c.(235-237)ctG>ctA	p.L79L		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	79						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCTGGCAGCCCAGGATGGTGG	0.652000													25	18					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109702050	109702050	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:109702050C>T	ENST00000338432.7	+	50	6920	c.6801C>T	c.(6799-6801)ctC>ctT	p.L2267L	ACACB_ENST00000377854.5_Silent_p.L2197L|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Silent_p.L2267L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2267	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AACCTGATCTCTCCGACAAGG	0.557000											OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	104					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152536165	152536165	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:152536165G>A	ENST00000367255.5	-	122	22823	c.22222C>T	c.(22222-22224)Cca>Tca	p.P7408S	SYNE1_ENST00000356820.4_Missense_Mutation_p.P1932S|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7408S|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7020S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7337S|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7337S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7408					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTAAATCTGGAGCCATGCTG	0.393000										HNSCC(10;0.0054)			21	34					0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96430490	96430490	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:96430490C>T	ENST00000274382.4	-	6	1106	c.811G>A	c.(811-813)Gat>Aat	p.D271N	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	271										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		CTCAGCTGATCATCACTGGGT	0.498000													15	22					0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79189818	79189818	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:79189818G>A	ENST00000282003.6	-	6	2136	c.2078C>T	c.(2077-2079)tCc>tTc	p.S693F	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	693	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGGCACAAAGGAAGTAGACCA	0.393000													20	79					0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188361702	188361702	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:188361702G>A	ENST00000233156.3	-	3	519	c.225C>T	c.(223-225)ttC>ttT	p.F75F	TFPI_ENST00000409676.1_Silent_p.F75F|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Silent_p.F75F|TFPI_ENST00000392365.1_Silent_p.F75F|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	75	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ACTGTCGAGTGAAAATATTGA	0.388000													10	20					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43087474	43087474	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:43087474C>T	ENST00000244336.5	-	5	1075	c.974G>A	c.(973-975)gGa>gAa	p.G325E	CEACAM8_ENST00000599005.1_Missense_Mutation_p.G27E|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	325					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)				AGGAGAACTTCCTTGTACTAA	0.473000													11	37					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26508081	26508081	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:26508081G>A	ENST00000376261.3	+	4	899	c.396G>A	c.(394-396)gtG>gtA	p.V132V	GAD2_ENST00000376248.1_Silent_p.V18V|GAD2_ENST00000259271.3_Silent_p.V132V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	132					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CAACCAAAGTGATTGATTTCC	0.388000													9	48					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71946393	71946393	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:71946393C>T	ENST00000298229.2	+	23	2761	c.2557C>T	c.(2557-2559)Ctg>Ttg	p.L853L	INPPL1_ENST00000541756.1_Silent_p.L611L|INPPL1_ENST00000538751.1_Silent_p.L611L	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	853					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCAACAGTTCCTGACCTTCCT	0.582000													89	72					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79428477	79428477	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:79428477C>T	ENST00000307745.7	+	30	6788	c.6788C>T	c.(6787-6789)cCc>cTc	p.P2263L	RP11-1055B8.8_ENST00000572590.1_RNA																							GCACCCATCCCCCCGCTGCCC	0.697000													10	3					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876061	74876061	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:74876061C>T	ENST00000331628.3	-	2	634	c.387G>A	c.(385-387)cgG>cgA	p.R129R	SYNDIG1L_ENST00000554823.1_Silent_p.R129R	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	129					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CCTCCTGGTCCCGCAGCTCCT	0.557000													35	61					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137093	126137093	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:126137093C>T	ENST00000299308.3	+	8	2014	c.2006C>T	c.(2005-2007)tCt>tTt	p.S669F	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S181F	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	669						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)		GCTGGCATGTCTCTCTCCCTG	0.602000													21	34					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95423532	95423532	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:95423532G>A	ENST00000336148.5	-	4	440	c.316C>T	c.(316-318)Cct>Tct	p.P106S		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ACTTCTTTAGGAGCCGAATGA	0.313000								Direct reversal of damage;Homologous recombination					45	21					0	0	1	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101837	46101837	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:46101837G>A	ENST00000391617.1	-	1	241	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	68	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						TGGCAGGAGGGAGCCGCATAC	0.647000													29	44					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712784	70712784	+	RNA	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:70712784C>T	ENST00000530196.1	-	0	1734					NR_003951.1																						GAGTTGATTTCTTTATAGCAA	0.388000													22	78					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135613761	135613761	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:135613761C>T	ENST00000520727.1	-	7	2464	c.2165G>A	c.(2164-2166)cGg>cAg	p.R722Q	ZFAT_ENST00000377838.3_Missense_Mutation_p.R734Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.R722Q|ZFAT_ENST00000523399.1_Missense_Mutation_p.R672Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.R722Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.R722Q	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTCCGGATCCGCTCACACAA	0.537000													35	95					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384754	108384754	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:108384754G>A	ENST00000265843.4	-	6	1590	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.H306Y|EXPH5_ENST00000428840.1_Missense_Mutation_p.H418Y|EXPH5_ENST00000525344.1_Missense_Mutation_p.H487Y	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	494					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGCTTCGATGAAAGTCAGAC	0.418000													21	13					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329002	88329002	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:88329002C>T	ENST00000325089.6	+	2	1578	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	SLITRK5_ENST00000400028.3_Silent_p.F212F	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	453						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCGCGCTTTCGGGGATCTCA	0.597000													15	23					0	0	1	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868050	31868050	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:31868050C>T	ENST00000375527.2	-	2	1208	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						AGCTTCTCCACGCCCTGGAAC	0.617000													16	44					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734832	92734832	+	Silent	SNP	C	C	T	rs142131920		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:92734832C>T	ENST00000379958.2	-	3	848	c.579G>A	c.(577-579)ccG>ccA	p.P193P		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	193						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTCATGTATCGGATCAATGA	0.383000													30	46					0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42122270	42122270	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:42122270C>T	ENST00000502486.1	-	5	1767	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	BEND4_ENST00000504360.1_Silent_p.T392T	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	396	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ACTGTTTGCTCGTTATGTAGA	0.453000													18	40					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46797828	46797828	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:46797828C>T	ENST00000529230.1	-	24	3014	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	CKAP5_ENST00000415402.1_Missense_Mutation_p.E990K|CKAP5_ENST00000354558.3_Missense_Mutation_p.E990K|CKAP5_ENST00000312055.5_Missense_Mutation_p.E990K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	990					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AAAGGATTTTCCTTTTTGAGC	0.438000													21	21					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32657337	32657337	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:32657337C>T	ENST00000335185.5	-	14	1133	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	364										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GATGATAATTCATTTTTAATC	0.244000													3	7					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273408	145273408	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:145273408G>A	ENST00000369340.3	+	4	706	c.262G>A	c.(262-264)Gat>Aat	p.D88N	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.D88N|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.D88N|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.D88N			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	88	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GCTCAGCCGGGATACCTATGA	0.488000													21	314					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21196326	21196326	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:21196326C>T	ENST00000381541.3	+	7	851	c.786C>T	c.(784-786)ttC>ttT	p.F262F	SLCO1B7_ENST00000554957.1_Silent_p.F262F|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.F215F																							GGCTTGGTTTCCTTGTGTCTG	0.353000													27	47					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072956	17072956	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:17072956G>A	ENST00000359963.3	-	1	744	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	162					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)				GAGGGCCCAGGATGGATCTTC	0.632000													27	35					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131861957	131861957	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:131861957G>A	ENST00000286355.5	-	10	4395	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	768					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	p.P768R(1)		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)			GAGGATGAGGGGCAAACATTT	0.473000										HNSCC(32;0.087)			8	47					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417378	150417378	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:150417378C>T	ENST00000307194.5	+	3	426	c.286C>T	c.(286-288)Cct>Tct	p.P96S		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGACAGATCCTGGCTGTGA	0.647000													14	33					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013458	99013458	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:99013458G>A	ENST00000393504.1	+	8	2242	c.1825G>A	c.(1825-1827)Gac>Aac	p.D609N	CNGA3_ENST00000272602.2_Missense_Mutation_p.D609N|CNGA3_ENST00000409937.1_Missense_Mutation_p.D613N|CNGA3_ENST00000436404.2_Missense_Mutation_p.D591N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	609					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CCTGATGAAAGACAACCTGAT	0.612000													14	16					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42554606	42554606	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:42554606C>T	ENST00000381668.5	-	17	1666	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E464K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	479					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma 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)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTAAGAAATTCACATATTATA	0.373000													15	14					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780110	37780110	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:37780110C>T	ENST00000447769.1	+	4	404	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.L39F			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	39						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATTTCCATTCTTTTCCTCCT	0.498000													26	41					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449856	158449856	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:158449856C>T	ENST00000368152.1	+	1	189	c.189C>T	c.(187-189)gtC>gtT	p.V63V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GTGGCAATGTCACCATTATCA	0.433000													62	58					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73879568	73879568	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:73879568G>A	ENST00000342056.2	+	12	2023	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R533Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R524Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R523Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R523Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R514Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	523					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ACTGTCATTCGAGCTATCAGG	0.393000													12	15					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28919596	28919596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:28919596G>A	ENST00000282397.4	-	16	2592	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	781			R -> Q (in a glioma low grade oligodendroglioma sample; somatic mutation).		cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTCATTTTTCGGATAAAGAGG	0.423000													7	5					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	191888430	191888430	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:191888430C>T	ENST00000454309.2	-	4	1255	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FGF12_ENST00000445105.1_Missense_Mutation_p.E82K|FGF12_ENST00000430714.1_Missense_Mutation_p.E45K|FGF12_ENST00000450716.1_Missense_Mutation_p.E82K|FGF12_ENST00000264730.3_Missense_Mutation_p.E82K	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	144					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AATTTGCATTCTGGAGTGAAA	0.363000													42	15					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130502597	130502597	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:130502597C>T	ENST00000314830.8	-	10	2253	c.2140G>A	c.(2140-2142)Ggt>Agt	p.G714S	SH2D3C_ENST00000373276.3_Missense_Mutation_p.G646S|SH2D3C_ENST00000429553.1_Missense_Mutation_p.G360S|SH2D3C_ENST00000420366.1_Missense_Mutation_p.G556S|SH2D3C_ENST00000373277.4_Missense_Mutation_p.G557S|SH2D3C_ENST00000373274.3_Missense_Mutation_p.G554S	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	714	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGATGGCACCCTCTGTGTGT	0.592000													20	24					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29907116	29907116	+	Missense_Mutation	SNP	C	C	T	rs147128268	byFrequency	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:29907116C>T	ENST00000308713.5	-	4	1104	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.V123I|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.V149I	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	193	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGCGGCTGACGGGGCTCCCC	0.542000													16	67					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752647	14752647	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:14752647C>T	ENST00000358984.4	+	2	484	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.L102F	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	102										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCTTAATGTCCTTGATGGCGA	0.433000													4	5					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699760	17699760	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:17699760C>T	ENST00000353383.1	+	3	3967	c.3498C>T	c.(3496-3498)ggC>ggT	p.G1166G	RAI1_ENST00000261641.6_Silent_p.G1166G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1166						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTCTGAGGGCCGGCTCCCCA	0.642000													25	27					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83335674	83335674	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:83335674C>T	ENST00000261722.3	-	15	1884	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.L559L|AP3B2_ENST00000535348.1_Silent_p.L527L	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	559					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CATACTGGGTCAGCAGCTTGG	0.572000													10	64					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38493841	38493841	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:38493841G>A	ENST00000263409.4	-	14	2094	c.1932C>T	c.(1930-1932)ctC>ctT	p.L644L	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.L644L	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	644	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCCAGGTGAGGAGAATCCCCT	0.418000			T	PLAG1	salivary adenoma								27	27					0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90475708	90475708	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:90475708C>T	ENST00000340281.4	+	6	820	c.677C>T	c.(676-678)tCc>tTc	p.S226F	ZNF326_ENST00000455342.2_Missense_Mutation_p.S20F|ZNF326_ENST00000370447.2_Missense_Mutation_p.S137F	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CAAAACAAATCCACCAATGTG	0.363000													12	26					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246121	166246121	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:166246121C>G	ENST00000357398.3	+	27	6095	c.5805C>G	c.(5803-5805)gaC>gaG	p.D1935E	SCN2A_ENST00000283256.6_Missense_Mutation_p.D1935E|SCN2A_ENST00000375437.2_Missense_Mutation_p.D1935E|SCN2A_ENST00000375427.2_Missense_Mutation_p.D1935E			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1935					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACAAGAAAGACAAAGGCAAAG	0.388000													12	15					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966172	20966172	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:20966172G>T	ENST00000261383.3	-	55	11033	c.11034C>A	c.(11032-11034)caC>caA	p.H3678Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3678	AAA 6 (By similarity).				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)		GAACAACGGCGTGGAAGAAAC	0.493000													28	77					3.73988e-18	3.81645e-18	1	1	0
NXPH3	11248	broad.mit.edu	37	17	47656351	47656351	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:47656351C>T	ENST00000328741.5	+	2	810	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	NXPH3_ENST00000513748.1_Missense_Mutation_p.P150S	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	150	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CAGCCTCGTGCCCCCCAGTAA	0.542000													14	43					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225313	206225313	+	Silent	SNP	C	C	T	rs149631562		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:206225313C>T	ENST00000367126.4	+	1	1338	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	291					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCCTACATCGCTTGCTGGG	0.582000													20	60					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113694808	113694808	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:113694808C>T	ENST00000297405.5	-	16	2784	c.2540G>A	c.(2539-2541)gGg>gAg	p.G847E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G847E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G807E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G743E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	847	Sushi 4.					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						AAAGTTGTCCCCAAACCGCCG	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	106					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185463	56185463	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:56185463C>T	ENST00000312253.1	-	1	245	c.246G>A	c.(244-246)atG>atA	p.M82I		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CAAAATTCACCATCATCTTCG	0.443000													6	28					0	0	1	0	0
GNA14	9630	broad.mit.edu	37	9	80144169	80144169	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:80144169C>T	ENST00000341700.6	-	2	638	c.124_splice	c.e2-1	p.G42_splice		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	42					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TTCACCAGTTCCTATAAGACA	0.448000													50	62					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133961052	133961052	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:133961052C>T	ENST00000361069.4	+	25	4305	c.4172C>T	c.(4171-4173)tCc>tTc	p.S1391F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1391	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCCCCTCTTTCCTCCAGTGCC	0.587000													13	16					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072138	240072138	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:240072138C>A	ENST00000255380.4	+	5	2166	c.1387C>A	c.(1387-1389)Ctg>Atg	p.L463M		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	463					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)	GGAAGCCACTCTGGCCAAGAG	0.542000													25	18					3.08376e-08	3.12231e-08	1	1	0
ASNS	440	broad.mit.edu	37	7	97487704	97487704	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:97487704G>A	ENST00000175506.4	-	8	1317	c.789C>T	c.(787-789)tcC>tcT	p.S263S	ASNS_ENST00000394309.3_Silent_p.S263S|ASNS_ENST00000422745.1_Silent_p.S242S|ASNS_ENST00000455086.1_Silent_p.S180S|ASNS_ENST00000394308.3_Silent_p.S263S|ASNS_ENST00000444334.1_Silent_p.S242S|ASNS_ENST00000437628.1_Silent_p.S180S	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	263	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAACCAAGCTGGAGTCCAAGC	0.473000													19	17					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199336	71199336	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:71199336G>A	ENST00000554752.2	-	11	2749	c.2750C>T	c.(2749-2751)tCt>tTt	p.S917F	MAP3K9_ENST00000555993.2_Missense_Mutation_p.S931F|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S894F|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S650F|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S645F			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	917	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGCCCCATCAGAAGGAGTCCG	0.592000													38	56					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635433	122635433	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:122635433C>T	ENST00000249284.2	-	1	321	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	86					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTAAAAAATTCCCAGGTGATT	0.393000													10	14					0	0	1	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106406096	106406096	+	RNA	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:106406096C>T	ENST00000390593.2	-	0	12																											AGCCAGAATTCAGCAGGCTCT	0.577000													9	11					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2024990	2024990	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:2024990G>C	ENST00000568546.1	+	7	654	c.526G>C	c.(526-528)Gcc>Ccc	p.A176P		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	176					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CACGGATGCCGCCATCCGCGT	0.677000													15	43					0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567478	5567478	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:5567478C>T	ENST00000315238.1	+	1	555	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	144	EF-hand 4.						calcium ion binding			endometrium(3)|lung(2)	5						GGAGTTTGTCCGTGTGCTGGT	0.692000													9	13					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798354	38798354	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:38798354T>C	ENST00000308979.2	-	4	2372	c.2099A>G	c.(2098-2100)aAc>aGc	p.N700S	TLR1_ENST00000502213.2_Missense_Mutation_p.N700S	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	700	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CTGGACAAAGTTGGGAGACAA	0.413000													49	64					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55112225	55112225	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:55112225C>T	ENST00000453777.1	+	8	983	c.813C>T	c.(811-813)gtC>gtT	p.V271V	LILRA1_ENST00000251372.3_Silent_p.V471V|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	471	Ig-like C2-type 3.				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)		CTGGCTTGGTCCTGGTGGTCC	0.567000													13	20					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215845251	215845251	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:215845251C>T	ENST00000272895.7	-	31	4915	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E1248K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1566	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAAAGGCTTCCTTGAGGTAA	0.488000													11	27					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45396414	45396414	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:45396414G>A	ENST00000389039.6	-	19	2869	c.2484C>T	c.(2482-2484)ttC>ttT	p.F828F	DUOX2_ENST00000603300.1_Silent_p.F828F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	828	EF-hand 1.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGCCAGAGAGAACATGGACT	0.612000													7	3					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78165574	78165574	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:78165574G>A	ENST00000535157.1	+	10	775	c.605G>A	c.(604-606)aGa>aAa	p.R202K	SCEL_ENST00000349847.3_Missense_Mutation_p.R224K|SCEL_ENST00000377246.3_Missense_Mutation_p.R224K	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	224					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GAAACCAACAGATCTGCTGAA	0.303000													14	15					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9632217	9632217	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:9632217G>A	ENST00000570827.2	+	15	3423	c.2349G>A	c.(2347-2349)ggG>ggA	p.G783G	USP43_ENST00000285199.6_Silent_p.G1094G|USP43_ENST00000570475.1_Silent_p.G1089G			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1094					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CTGTTCCAGGGGAGCAGGCTT	0.547000											OREG0024168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	34					0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138763091	138763091	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:138763091C>T	ENST00000413199.1	-	1	643	c.372G>A	c.(370-372)gtG>gtA	p.V124V	PRR23C_ENST00000502927.2_Silent_p.V124V|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	124										breast(2)|lung(7)|skin(2)	11						GGAAAACGTCCACTTCCAGGC	0.637000													3	3					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21053352	21053352	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:21053352G>A	ENST00000261383.3	-	32	4634	c.4635C>T	c.(4633-4635)ctC>ctT	p.L1545L	DNAH3_ENST00000415178.1_Silent_p.L1545L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1545	AAA 1 (By similarity).				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)		CATTTACCTTGAGATTGTCGG	0.527000													18	47					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38877842	38877842	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:38877842C>T	ENST00000334928.6	-	3	192	c.60G>A	c.(58-60)tcG>tcA	p.S20S	GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	20					cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGCGCGGTCCGAGGGCTGCA	0.652000													6	3					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579695	55579695	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:55579695C>T	ENST00000333973.2	+	1	842	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCACTGTCTTCCATGGAACAG	0.517000													31	29					0	0	1	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522555	32522555	+	RNA	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:32522555C>T	ENST00000411500.1	-	0	651					NR_001298.1																						TTTCCAGCATCACCAGGGTCT	0.537000													15	124					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52553077	52553077	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:52553077C>T	ENST00000261839.7	-	10	1456	c.1295G>A	c.(1294-1296)gGt>gAt	p.G432D	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	432	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GTCCAAAACACCAATAAAAGT	0.418000													16	26					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354348	17354348	+	RNA	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:17354348C>T	ENST00000511821.1	+	0	207				FTH1P10_ENST00000401830.3_RNA																							GTTCCCTCTCCTCATGAGATT	0.473000													28	46					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261531	1261531	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:1261531C>T	ENST00000348261.5	+	23	4649	c.4401C>T	c.(4399-4401)atC>atT	p.I1467I	CACNA1H_ENST00000358590.4_Silent_p.I1467I|CACNA1H_ENST00000565831.1_Silent_p.I1467I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1467					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCAGGAACATCTCCACCAAGG	0.687000													10	22					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168151	36168151	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:36168151C>T	ENST00000357641.6	+	2	305	c.52C>T	c.(52-54)Ccg>Tcg	p.P18S	BRPF3_ENST00000339717.7_Missense_Mutation_p.P18S|BRPF3_ENST00000443324.2_Missense_Mutation_p.P18S|BRPF3_ENST00000534694.1_Missense_Mutation_p.P18S|BRPF3_ENST00000534400.1_Missense_Mutation_p.P18S|BRPF3_ENST00000543502.1_Missense_Mutation_p.P18S	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	18					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCGGCGTTCCCCGTCCCCCTA	0.632000													13	59					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38743715	38743715	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:38743715C>T	ENST00000359357.3	+	11	1553	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	DNAH8_ENST00000449981.2_Silent_p.I650I|DNAH8_ENST00000441566.1_Silent_p.I433I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGACAAAAATCAATGGTTTAG	0.308000													27	56					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791071	15791071	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:15791071G>A	ENST00000550308.1	+	4	741	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CYP4F12_ENST00000324632.9_Missense_Mutation_p.D121N	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGCACCCAAGGATAATCTCTT	0.567000													49	74					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5474874	5474874	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:5474874G>A	ENST00000341449.2	+	1	237	c.156G>A	c.(154-156)gaG>gaA	p.E52E	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGAGTGGAGCCCAGCCTCC	0.572000													16	24					0	0	1	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986066	31986066	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:31986066G>A	ENST00000329122.2	-	1	183	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	53						cytosol|intermediate filament		p.S53C(1)		breast(2)|endometrium(1)|lung(7)	10						GAGGGAGCGGGAGCCATAGCC	0.582000													40	79					0	0	1	0	0
RIBC2	26150	broad.mit.edu	37	22	45813576	45813576	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:45813576C>T	ENST00000342894.3	+	3	501	c.87C>T	c.(85-87)ttC>ttT	p.F29F	RIBC2_ENST00000538017.1_Silent_p.F97F			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	29										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCAATGACTTCCAACAGAGCT	0.448000													39	22					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835312	61835312	+	Missense_Mutation	SNP	G	G	A	rs138929485		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:61835312G>A	ENST00000280772.1	-	37	5518	c.5327C>T	c.(5326-5328)tCc>tTc	p.S1776F	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1776	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S1776F(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTGAGTGGGGAAAATGGCAT	0.453000													36	25					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874950	20874950	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:20874950G>A	ENST00000381552.1	+	8	1356	c.988G>A	c.(988-990)Gga>Aga	p.G330R	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G212R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G281R|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G330R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G330R			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	330					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AACACCCCAGGGAGAAAATGC	0.338000													8	11					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133805028	133805028	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:133805028C>T	ENST00000372338.4	-	2	720	c.478G>A	c.(478-480)Ggg>Agg	p.G160R	FIBCD1_ENST00000253018.4_Missense_Mutation_p.G2R|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G2R|FIBCD1_ENST00000448616.1_Missense_Mutation_p.G160R	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	160					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TTCCGCAGCCCCATGCACTCC	0.711000													9	20					0	0	1	0	0
LRRC73	221424	broad.mit.edu	37	6	43477258	43477258	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:43477258G>A	ENST00000372441.1	-	1	1166	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	89																	TCACAAGAGGGACTGGATGGA	0.647000													5	35					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999931	108999931	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:108999931C>T	ENST00000272452.2	+	5	906	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	SULT1C4_ENST00000409309.3_Missense_Mutation_p.R119C	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	194					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AGACAAACACCGTATTCTCTA	0.463000													6	23					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37528434	37528434	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:37528434C>T	ENST00000216223.5	-	9	1091	c.893G>A	c.(892-894)gGa>gAa	p.G298E		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	298					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTGGACGTCTCCTCCATGCTC	0.577000													11	17					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22783080	22783080	+	RNA	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:22783080C>T	ENST00000600260.1	+	0	587					NR_033899.1																						AGGACAGCTCCAAGCCCAGGT	0.647000													4	4					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45767988	45767988	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:45767988G>A	ENST00000300843.4	+	5	699	c.402G>A	c.(400-402)gtG>gtA	p.V134V	MARK4_ENST00000262891.4_Silent_p.V134V	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	134	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTACCTGGTGATGGAGTACG	0.607000													37	65					0	0	1	0	0
SH3YL1	26751	broad.mit.edu	37	2	218837	218837	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:218837G>A	ENST00000403657.1	-	12	2853	c.658C>T	c.(658-660)Cca>Tca	p.P220S	SH3YL1_ENST00000415006.2_Missense_Mutation_p.P239S|SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000405430.1_Missense_Mutation_p.P335S|SH3YL1_ENST00000403712.2_Missense_Mutation_p.P316S|SH3YL1_ENST00000403658.1_Missense_Mutation_p.P220S|SH3YL1_ENST00000356150.5_Missense_Mutation_p.P335S			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	335										large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TAGTTGGCTGGAAAAATGCCA	0.328000													14	20					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058866	152058866	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:152058866C>T	ENST00000368806.1	-	3	1356	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	431							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)			TTTTGATAATCCTTGGAGTTC	0.463000													34	102					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083116	66083116	+	Silent	SNP	A	A	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:66083116A>T	ENST00000311330.3	-	1	1399	c.1383T>A	c.(1381-1383)ccT>ccA	p.P461P	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	461	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGTGGGCAGAAGGCAGTGTGG	0.647000													42	73					0	0	1	0	0
NDFIP2	54602	broad.mit.edu	37	13	80122489	80122489	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:80122489C>T	ENST00000218652.7	+	6	919	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	289					negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		CTGGATATTTCAATGGACAGT	0.279000													70	92					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873332	55873332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:55873332C>T	ENST00000313503.1	+	1	814	c.814C>T	c.(814-816)Caa>Taa	p.Q272*		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	272					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)					GGGAAGAGATCAAGTGGCTTC	0.368000										HNSCC(53;0.14)			23	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642031	179642031	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:179642031C>T	ENST00000589042.1	-	27	4883	c.4659G>A	c.(4657-4659)caG>caA	p.Q1553Q	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.Q1553Q|TTN_ENST00000360870.5_Silent_p.Q1553Q|TTN_ENST00000460472.2_Silent_p.Q1507Q|TTN_ENST00000591111.1_Silent_p.Q1553Q|TTN_ENST00000359218.5_Silent_p.Q1507Q|TTN_ENST00000342175.6_Silent_p.Q1507Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1553							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)			TCGGTTTTACCTGATGTTCCA	0.368000													8	12					0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6749334	6749334	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:6749334C>T	ENST00000229243.2	-	8	1410	c.1317G>A	c.(1315-1317)atG>atA	p.M439I	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.M406I	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	439						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						ACCAGAAGTCCATGTGGAGCC	0.597000													10	21					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49765344	49765344	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:49765344G>A	ENST00000492622.2	+	19	2355		c.e19-1		FNDC3A_ENST00000541916.1_Splice_Site|FNDC3A_ENST00000398316.3_Splice_Site	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A							Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCATCTTTTAGGACCCCCTCT	0.368000													30	23					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6859892	6859892	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:6859892C>T	ENST00000419673.2	+	4	462	c.245C>T	c.(244-246)tCt>tTt	p.S82F	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S189F|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S77F|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S82F|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S64F|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S82F|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S241F|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.S241F	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	64					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGGAGTGACTCTGTGGTAAGT	0.428000													22	36					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269905	150269905	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:150269905G>A	ENST00000255945.2	+	3	922	c.747G>A	c.(745-747)gaG>gaA	p.E249E	GIMAP4_ENST00000461940.1_Silent_p.E263E|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	249							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGCTGGAGAGAGAGAAAG	0.458000													7	16					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	618552	618552	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:618552G>A	ENST00000588649.2	-	17	3442	c.3358C>T	c.(3358-3360)Ccg>Tcg	p.P1120S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1120	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTTGGGCGGGAAGCCGTTC	0.657000													5	17					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461398	11461398	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:11461398G>A	ENST00000279575.1	-	3	552	c.519C>T	c.(517-519)tcC>tcT	p.S173S	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Silent_p.S173S	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	236	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGGCACTTCGGGACTTGTTTC	0.592000										HNSCC(22;0.051)			112	169					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2967441	2967441	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:2967441G>A	ENST00000397461.1	+	12	1720	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	CNTN4_ENST00000448906.2_Missense_Mutation_p.D118N|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000427331.1_Missense_Mutation_p.D446N|CNTN4_ENST00000397459.2_Missense_Mutation_p.D118N|CNTN4_ENST00000358480.3_Missense_Mutation_p.D227N|CNTN4_ENST00000418658.1_Missense_Mutation_p.D446N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	446	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAAAGGAAGGGATATATTAAA	0.343000													20	30					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48435788	48435788	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:48435788C>T	ENST00000017003.2	+	10	2211	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	721					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CTGAGCCGGCCCCTGCGGCCA	0.582000													14	39					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130162387	130162387	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:130162387G>A	ENST00000265379.6	+	36	7049	c.6555G>A	c.(6553-6555)gaG>gaA	p.E2185E	COL6A5_ENST00000432398.2_Silent_p.E2185E			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2185	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TAGGAGGAGAGAATATTCAAA	0.363000													12	11					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307300	162307300	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:162307300G>A	ENST00000306100.5	-	16	2579	c.2143C>T	c.(2143-2145)Ctt>Ttt	p.L715F	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.L714F|FSTL5_ENST00000427802.2_Missense_Mutation_p.L705F|FSTL5_ENST00000536695.1_Missense_Mutation_p.L714F	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	715						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACCCTTACAAGACCTTTCACA	0.418000													14	22					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101597715	101597715	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:101597715G>A	ENST00000310954.6	-	5	1208	c.922C>T	c.(922-924)Ccg>Tcg	p.P308S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	308					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AACCATCGCGGATCATCCTCA	0.358000													10	19					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151671190	151671190	+	Missense_Mutation	SNP	C	C	T	rs145059917		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:151671190C>T	ENST00000402676.2	+	4	1904	c.1664C>T	c.(1663-1665)cCg>cTg	p.P555L	AKAP12_ENST00000354675.6_Missense_Mutation_p.P457L|AKAP12_ENST00000253332.1_Missense_Mutation_p.P555L|AKAP12_ENST00000359755.5_Missense_Mutation_p.P450L	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	555	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCCGATTCTCCGGACAGCCAG	0.557000													14	20					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45360729	45360729	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:45360729C>T	ENST00000560629.1	+	3	140	c.140C>T	c.(139-141)tCt>tTt	p.S47F	ITGB3_ENST00000559488.1_Silent_p.L59L|ITGB3_ENST00000435993.2_Silent_p.L12L|ITGB3_ENST00000571680.1_Silent_p.L59L			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|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|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GGCCCTGCCTCTGGGCTCACC	0.552000													12	7					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10086141	10086141	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:10086141G>A	ENST00000382452.2	-	9	1247	c.965C>T	c.(964-966)tCg>tTg	p.S322L	WDR1_ENST00000499869.2_Missense_Mutation_p.S322L|WDR1_ENST00000502702.1_Missense_Mutation_p.S182L|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Missense_Mutation_p.S182L	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	322					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACACTGGATCGATTTACTGTG	0.532000													5	9					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541288	55541288	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:55541288G>A	ENST00000220676.1	+	4	4994	c.4846G>A	c.(4846-4848)Gaa>Aaa	p.E1616K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1616					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)			TGACAGTGGCGAACTTACCCA	0.398000													75	30					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670594	186670594	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:186670594G>A	ENST00000343098.5	+	17	16828	c.16828G>A	c.(16828-16830)Gat>Aat	p.D5610N	FSIP2_ENST00000424728.1_Missense_Mutation_p.D5521N	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						AAAGGAAGTGGATGAAAATAA	0.353000													20	32					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42730352	42730352	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:42730352G>A	ENST00000301215.3	+	3	2022	c.1797G>A	c.(1795-1797)cgG>cgA	p.R599R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CCCGAGCTCGGACTTTGACGC	0.617000													28	29					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037271	129037271	+	Missense_Mutation	SNP	G	G	A	rs142637273		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:129037271G>A	ENST00000274487.4	+	20	3272	c.3127G>A	c.(3127-3129)Gga>Aga	p.G1043R	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1043	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGGGAGGCGGGAGTGTGGTC	0.567000													9	20					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915334	156915334	+	Missense_Mutation	SNP	G	G	A	rs35242691		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:156915334G>A	ENST00000257527.4	-	21	2567	c.2489C>T	c.(2488-2490)tCg>tTg	p.S830L	ADAM19_ENST00000517905.1_Missense_Mutation_p.S830L|ADAM19_ENST00000430702.2_Missense_Mutation_p.S563L|ADAM19_ENST00000394020.1_Missense_Mutation_p.S832L	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	830					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.S831*(1)|p.S830*(1)		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)			CCTCCTGGACGACTCCGTCCT	0.602000													45	66					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178404	65178404	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:65178404G>A	ENST00000310045.7	-	2	4945	c.3472C>T	c.(3472-3474)Cct>Tct	p.P1158S	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	1148						integral to membrane	isomerase activity|sulfotransferase activity	p.P1158S(1)		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)				GGAGACAAAGGAATTCCAAGA	0.373000													12	15					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892867	166892867	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:166892867C>T	ENST00000423058.2	-	16	3137	c.3120G>A	c.(3118-3120)agG>agA	p.R1040R	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.R1029R|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.R1040R|SCN1A_ENST00000409050.1_Silent_p.R1012R|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1040						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTTTGTTTCCTAATGAAGG	0.313000													9	14					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14057584	14057584	+	Silent	SNP	C	C	T	rs143175897		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:14057584C>T	ENST00000235372.7	+	3	955	c.99C>T	c.(97-99)ttC>ttT	p.F33F	PRDM2_ENST00000376048.5_Silent_p.F33F|PRDM2_ENST00000311066.5_Silent_p.F33F	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	33	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGAGGCTTTTCCCTTCTGCTG	0.587000													23	39					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120528372	120528372	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:120528372G>A	ENST00000354960.3	-	2	552	c.233C>T	c.(232-234)tCt>tTt	p.S78F	PDE5A_ENST00000264805.5_Missense_Mutation_p.S36F|PDE5A_ENST00000394439.1_Missense_Mutation_p.S26F	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	78					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)	ACAAGAGCAAGATTCGGTGTG	0.512000													12	26					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132693821	132693821	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:132693821G>A	ENST00000367963.3	-	4	707	c.589C>T	c.(589-591)Cca>Tca	p.P197S	MOXD1_ENST00000336749.3_Missense_Mutation_p.P129S	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	197					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.P197T(1)|p.P129T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCTTTGTTTGGGATGGGGACC	0.363000													13	23					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909184	65909184	+	Silent	SNP	A	A	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:65909184A>G	ENST00000321892.4	+	13	5623	c.5562A>G	c.(5560-5562)ttA>ttG	p.L1854L	BPTF_ENST00000335221.5_Silent_p.L1854L|BPTF_ENST00000424123.3_Silent_p.L1715L|BPTF_ENST00000306378.6_Silent_p.L1728L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1854					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGATGACTTAAAAAAGTTGG	0.408000													25	132					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126746621	126746621	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:126746621G>A	ENST00000339582.2	-	3	1464	c.656C>T	c.(655-657)tCg>tTg	p.S219L	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S219L|GRM8_ENST00000405249.1_Missense_Mutation_p.S219L|GRM8_ENST00000444921.2_Missense_Mutation_p.S219L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	219					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S219L(2)		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)	AGCCAGTGTCGAAACATAATT	0.493000										HNSCC(24;0.065)			9	18					0	0	1	0	0
MIRLET7E	406887	broad.mit.edu	37	19	52196011	52196011	+	RNA	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:52196011C>T	ENST00000602324.1	-	0	698					NR_029482.1|NR_029693.1																						GTCTGTCTGTCTGTCGGGTCT	0.652000													10	12					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835102	24835102	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:24835102C>T	ENST00000376454.3	+	21	5711	c.5681C>T	c.(5680-5682)tCc>tTc	p.S1894F	KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1325F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1300F|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1215F	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1894	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ttgtcattttcctcctcccct	0.532000													7	33					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6537604	6537604	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:6537604C>T	ENST00000377748.1	-	3	756	c.259G>A	c.(259-261)Gac>Aac	p.D87N	PLEKHG5_ENST00000535355.1_Missense_Mutation_p.D79N|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.D89N|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.D10N|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.D10N|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.D10N|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.D10N|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.D66N|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.D10N|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.D10N|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.D47N|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.D87N	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	66					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGGAAGGTCGAAGCGGACA	0.627000													26	39					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35070254	35070254	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:35070254A>T	ENST00000382002.5	-	7	1083	c.657T>A	c.(655-657)agT>agA	p.S219R	PRLR_ENST00000348262.3_Missense_Mutation_p.S219R|PRLR_ENST00000397391.3_Missense_Mutation_p.S148R|PRLR_ENST00000342362.5_Missense_Mutation_p.S118R|PRLR_ENST00000310101.5_Missense_Mutation_p.S219R|PRLR_ENST00000513753.1_Missense_Mutation_p.S219R|PRLR_ENST00000542609.1_Missense_Mutation_p.S219R|PRLR_ENST00000231423.3_Missense_Mutation_p.S219R|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000511486.1_Missense_Mutation_p.S118R	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	219	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGGTCGCTGGACTCCATGCAC	0.423000													15	18					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848596	42848596	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:42848596C>T	ENST00000334370.4	+	11	2427	c.1792C>T	c.(1792-1794)Cca>Tca	p.P598S	MEGF8_ENST00000251268.6_Missense_Mutation_p.P598S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	598	PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCGCAGTGTCCAGCCGCCAG	0.667000													17	22					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197024887	197024887	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:197024887G>A	ENST00000367412.1	-	8	1355	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	438	Sushi 7.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TGTTCGCAACGAGATATTTTT	0.413000													17	56					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975751	152975751	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:152975751C>T	ENST00000331860.3	+	3	405	c.255C>T	c.(253-255)gtC>gtT	p.V85V	SPRR3_ENST00000542696.1_Silent_p.V85V|SPRR3_ENST00000295367.4_Silent_p.V85V	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	85	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTACCAAGGTCCCTGAGCCAG	0.602000													23	41					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580881	11580881	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:11580881G>A	ENST00000294484.6	+	10	2476	c.2338G>A	c.(2338-2340)Ggc>Agc	p.G780S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G780S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	780					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)		GAGCGCCGAGGGCATCTCCTG	0.647000													7	9					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234799	21234799	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:21234799A>C	ENST00000233242.1	-	26	5068	c.4941T>G	c.(4939-4941)atT>atG	p.I1647M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1647					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)	CATCTTGGCCAATCCTTAGTG	0.463000													20	28					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053544	17053544	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:17053544C>T	ENST00000418129.2	+	2	2793	c.2328C>T	c.(2326-2328)tcC>tcT	p.S776S	PLCL2_ENST00000432376.1_Silent_p.S776S|PLCL2_ENST00000396755.2_Silent_p.S776S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	902	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGAAGAAATCCAGGGAATATG	0.453000													16	36					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114305358	114305358	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:114305358G>A	ENST00000309235.5	+	6	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	715					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AATTCATACCGGAAGGAGAGA	0.403000													22	29					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126176261	126176261	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:126176261T>C	ENST00000368357.3	+	4	498	c.146T>C	c.(145-147)gTt>gCt	p.V49A	NCOA7_ENST00000392477.2_Missense_Mutation_p.V49A|NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000487635.1_3'UTR	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	49					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AATACAGTAGTTTTAGAGCCA	0.383000													48	69					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45381727	45381727	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:45381727C>T	ENST00000252485.4	+	6	1641	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	484					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCCCTGGTCCCATGGAACCAG	0.592000													5	8					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832776	150832776	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:150832776C>T	ENST00000370357.4	+	11	1272	c.1027C>T	c.(1027-1029)Cca>Tca	p.P343S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	343						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTGGATCCAGAGGACTC	0.592000													4	4					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179363152	179363152	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:179363152C>T	ENST00000367618.3	+	10	1365	c.978C>T	c.(976-978)ttC>ttT	p.F326F	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Silent_p.F326F	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	326										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGTATAATTTCAAGCATGTTA	0.348000													30	59					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692327	20692327	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:20692327C>T	ENST00000315519.2	+	1	537	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	153					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)		ACCCCTCCATCATGACTGGGA	0.433000													36	47					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110850868	110850868	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:110850868C>T	ENST00000375820.4	-	21	1352	c.1231G>A	c.(1231-1233)Ggg>Agg	p.G411R	COL4A1_ENST00000543140.1_Missense_Mutation_p.G411R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	411	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)			CCCGGGAGCCCATCTCTTCCA	0.592000													25	25					0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9799438	9799438	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:9799438C>T	ENST00000256460.3	-	11	1182	c.1005G>A	c.(1003-1005)ggG>ggA	p.G335G	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	335					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TCAGCAGCTCCCCATGGCTCG	0.672000													21	40					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241356	3241356	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:3241356G>A	ENST00000217939.6	-	5	2524	c.2370C>T	c.(2368-2370)gtC>gtT	p.V790V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	790						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)				TTTTCCCACGGACTTTGGCTA	0.453000													33	9					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130763037	130763037	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:130763037G>A	ENST00000392429.1	+	2	3848	c.1470G>A	c.(1468-1470)agG>agA	p.R490R	TMEM200A_ENST00000296978.3_Silent_p.R490R|TMEM200A_ENST00000545622.1_Silent_p.R490R	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	490						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTGAAACAAGGTTTTAATGTT	0.299000													9	17					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128040875	128040875	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:128040875C>T	ENST00000368250.1	-	6	2113	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	THEMIS_ENST00000543064.1_Missense_Mutation_p.E657K|THEMIS_ENST00000368248.2_Missense_Mutation_p.E618K|THEMIS_ENST00000537166.1_Missense_Mutation_p.E583K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	618					negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTTTCTCTTCATCCACCAAA	0.438000													18	29					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239155103	239155103	+	Silent	SNP	A	A	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:239155103A>T	ENST00000254657.3	-	23	3960	c.3681T>A	c.(3679-3681)atT>atA	p.I1227I	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1227	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCAGAGAAGGAATATCTTCCT	0.413000													8	14					0	0	1	0	0
C6orf89	221477	broad.mit.edu	37	6	36891195	36891195	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:36891195G>A	ENST00000480824.2	+	9	1316	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	C6orf89_ENST00000510325.2_Missense_Mutation_p.G235E|C6orf89_ENST00000355190.3_Missense_Mutation_p.G348E|C6orf89_ENST00000373685.1_Missense_Mutation_p.G341E|C6orf89_ENST00000359359.2_Missense_Mutation_p.G235E			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	341						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ATCTGCGATGGAACCGCTTTC	0.483000													11	26					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897855	61897855	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:61897855C>T	ENST00000394818.3	+	4	1058	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	INCENP_ENST00000278849.4_Silent_p.L286L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	286					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGCTCCCATCCTGCCGGATAA	0.652000													55	64					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061668	103061668	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:103061668G>A	ENST00000264260.2	+	9	1529	c.940G>A	c.(940-942)Gat>Aat	p.D314N	IL18RAP_ENST00000409369.1_Missense_Mutation_p.D172N	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	314	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CACTTTAAAGGATGAAATCAT	0.383000													10	13					0	0	1	0	0
LIF	3976	broad.mit.edu	37	22	30639670	30639670	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:30639670C>T	ENST00000249075.3	-	3	734	c.579G>A	c.(577-579)caG>caA	p.Q193Q	LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	193					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			CGGCGATGATCTGCTTATACT	0.577000													26	64					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744446	744446	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:744446T>A	ENST00000381944.3	-	3	1010	c.769A>T	c.(769-771)Aat>Tat	p.N257Y	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Missense_Mutation_p.N257Y			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	257					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										ACCTGGTCATTGAGGAGGTCT	0.617000													35	29					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370291	86370291	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:86370291T>G	ENST00000400286.2	-	2	951	c.353A>C	c.(352-354)cAt>cCt	p.H118P		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	118						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTGATTGATATGAAGTTGTTT	0.358000													45	50					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202574757	202574757	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:202574757C>T	ENST00000367267.1	-	2	336	c.144G>A	c.(142-144)aaG>aaA	p.K48K	SYT2_ENST00000367268.4_Silent_p.K48K	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	48					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ATAACTTCTCCTTCAGTTTGG	0.562000													9	50					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162760523	162760523	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:162760523G>A	ENST00000375514.5	+	13	1682	c.1395G>A	c.(1393-1395)ggG>ggA	p.G465G	SLC4A10_ENST00000272716.5_Silent_p.G454G|SLC4A10_ENST00000415876.2_Silent_p.G454G|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000446997.1_Silent_p.G484G|SLC4A10_ENST00000421911.1_Silent_p.G484G	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	484					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGATTTTTGGGGGACTTATTT	0.383000													4	1					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105939630	105939630	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:105939630C>T	ENST00000357060.3	-	18	2465	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	WDR96_ENST00000428666.1_Missense_Mutation_p.E785K|WDR96_ENST00000278064.2_Missense_Mutation_p.E715K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	784										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAAGGAATTTCCTTCTTAACA	0.358000													21	55					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133936604	133936604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:133936604C>T	ENST00000361069.4	+	13	2474	c.2341C>T	c.(2341-2343)Cag>Tag	p.Q781*	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	781	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCCCCGGGCCAGAGAGGTAA	0.692000													12	14					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552789	106552789	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:106552789G>A	ENST00000369096.4	+	5	988	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	PRDM1_ENST00000369091.2_Missense_Mutation_p.E216K|PRDM1_ENST00000369089.3_Missense_Mutation_p.E118K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	252					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E216*(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CAGCGTGAAAGAAATCCTAAA	0.438000			"""D, N, Mis, F, S"""		DLBCL								95	123					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408266	75408266	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:75408266C>T	ENST00000394810.2	-	4	1293	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	SYNPO2L_ENST00000372872.4_Missense_Mutation_p.E382K|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.E158K	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	382						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCAGAGACCTCACTCAGCTGC	0.632000													23	71					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517807	20517807	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:20517807T>A	ENST00000375099.3	+	2	837	c.753T>A	c.(751-753)ttT>ttA	p.F251L		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	251	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GGAGGCGATTTTCTGACCTCA	0.522000													30	38					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45744141	45744141	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:45744141G>A	ENST00000297323.7	+	17	2765	c.2743G>A	c.(2743-2745)Gac>Aac	p.D915N		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	915					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTTTTACAAGGACATAGAGAA	0.512000													12	29					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84234127	84234127	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:84234127C>T	ENST00000536636.1	+	3	1312	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	PRSS35_ENST00000369700.3_Missense_Mutation_p.R323W	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	323	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTTGGTCTATCGGTTTTGCAG	0.483000													15	30					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622636	65622636	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:65622636C>T	ENST00000327987.4	-	11	2104	c.1853G>A	c.(1852-1854)aGg>aAg	p.R618K		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	618										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCACCTGTCCTCTCAGATGC	0.572000													19	100					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102995975	102995975	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:102995975T>C	ENST00000375735.2	+	12	1952	c.1808T>C	c.(1807-1809)gTt>gCt	p.V603A	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V603A|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.V603A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	603	Stem (By similarity).				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)		ATACAGCAAGTTGCAAACATT	0.353000													5	4					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167138232	167138232	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:167138232C>T	ENST00000303354.6	-	13	2404	c.2064G>A	c.(2062-2064)caG>caA	p.Q688Q	SCN9A_ENST00000409672.1_Silent_p.Q676Q|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.Q687Q|SCN9A_ENST00000375387.4_Silent_p.Q688Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	687						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCATTGCTCTCTGTCTGAGGT	0.348000													15	28					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150498776	150498776	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:150498776G>A	ENST00000484928.1	+	2	719	c.138G>A	c.(136-138)caG>caA	p.Q46Q	TMEM176A_ENST00000004103.3_Silent_p.Q46Q|TMEM176A_ENST00000461345.1_Intron			Q96HP8	T176A_HUMAN	transmembrane protein 176A	46						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCCACCCAGGCCAGGGGCA	0.711000													3	8					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174432	106174432	+	RNA	SNP	A	A	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:106174432A>G	ENST00000390547.2	-	0	356																											AGCATgagggagatggggtag	0.612000													6	8					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137716622	137716622	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:137716622G>A	ENST00000371817.3	+	62	5289	c.4875G>A	c.(4873-4875)atG>atA	p.M1625I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1625	Fibrillar collagen NC1.				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)		TTGAGCAGATGAAACGGCCCC	0.632000													10	26					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38892219	38892219	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:38892219G>A	ENST00000302328.3	-	25	4278	c.4080C>T	c.(4078-4080)ttC>ttT	p.F1360F	SCN11A_ENST00000456224.3_Silent_p.F1322F|SCN11A_ENST00000450244.1_Silent_p.F1360F|SCN11A_ENST00000444237.2_Silent_p.F1360F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1360					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F1360F(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGACTATGTCGAACACGAGAC	0.313000													15	40					0	0	1	0	0
IL2	3558	broad.mit.edu	37	4	123377512	123377512	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:123377512C>T	ENST00000226730.4	-	1	368	c.84G>A	c.(82-84)aaG>aaA	p.K28K		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	28					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		GCTGTGTTTTCTTTGTAGAAC	0.368000			T	TNFRSF17	intestinal T-cell lymphoma								13	14					0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71483540	71483540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:71483540G>A	ENST00000393539.2	-	6	1201	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	ZNF23_ENST00000564528.1_Nonsense_Mutation_p.Q72*|ZNF23_ENST00000539742.1_5'UTR|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Nonsense_Mutation_p.Q130*|ZNF23_ENST00000428724.2_Nonsense_Mutation_p.Q72*|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Nonsense_Mutation_p.Q130*|ZNF23_ENST00000358700.2_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GTATGACACTGATATGAGTTT	0.408000													41	45					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189948717	189948717	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:189948717C>T	ENST00000374866.3	-	12	1119	c.845G>A	c.(844-846)gGa>gAa	p.G282E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	282					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TACCGGAGATCCTGCAAATCC	0.363000													11	12					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666602	167666602	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:167666602G>A	ENST00000367854.3	+	6	1072	c.741G>A	c.(739-741)gaG>gaA	p.E247E	RCSD1_ENST00000537350.1_Silent_p.E217E	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	247	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCAGGACAGAGAAGCAGGAGG	0.627000													6	26					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132289353	132289353	+	Missense_Mutation	SNP	C	C	T	rs145934024		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:132289353C>T	ENST00000467992.2	+	2	1281	c.967C>T	c.(967-969)Cct>Tct	p.P323S	CCDC74A_ENST00000295171.6_Missense_Mutation_p.P221S|CCDC74A_ENST00000409856.3_Missense_Mutation_p.P155S			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	221								p.P221S(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGACAAAGTTCCTGGGGTACA	0.577000													27	58					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333197	70333197	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:70333197C>T	ENST00000338508.4	-	32	3203	c.3204G>A	c.(3202-3204)cgG>cgA	p.R1068R	SHANK2_ENST00000449833.2_Silent_p.R472R|SHANK2_ENST00000423696.2_Silent_p.R688R|SHANK2_ENST00000409161.1_Silent_p.R471R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	688					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTTCGTCAGGCCGCAGCTGGC	0.697000													30	66					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150960657	150960657	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:150960657G>A	ENST00000368947.4	+	11	1264	c.788G>A	c.(787-789)gGc>gAc	p.G263D		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	263					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTCTGCTCGGCCTAGGTAGG	0.532000													12	54					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418737	55418737	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:55418737C>T	ENST00000312422.2	+	1	358	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GGCCTATGATCGTTATGTGGC	0.428000													54	73					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39806751	39806751	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:39806751G>A	ENST00000502986.2	+	2	348	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	IDO2_ENST00000389060.4_Missense_Mutation_p.E23K|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	23					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TCACATATCTGAAGAGTATGG	0.403000													3	2					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159272175	159272175	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:159272175C>T	ENST00000368115.1	+	2	120	c.21C>T	c.(19-21)tcC>tcT	p.S7S	FCER1A_ENST00000368114.1_Silent_p.S7S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	7						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CCATGGAATCCCCTACTCTAC	0.483000													39	121					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	142053641	142053641	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:142053641A>G	ENST00000306799.3	-	1	975	c.322T>C	c.(322-324)Ttc>Ctc	p.F108L	RNF150_ENST00000515673.1_Missense_Mutation_p.F108L|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.F108L	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	108	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GGGGCGGCGAACTTGGTGTTG	0.677000													5	2					0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99849348	99849348	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:99849348G>A	ENST00000373031.4	+	4	629	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	138	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						ACCAGAAGAGGAAATAGATGA	0.338000													11	3					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773387	140773387	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:140773387C>T	ENST00000398604.2	+	1	1007	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCATTTCGGTGGAAGAT	0.398000													33	49					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31933779	31933779	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:31933779C>T	ENST00000375394.2	+	18	2304	c.2191C>T	c.(2191-2193)Cgc>Tgc	p.R731C	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R538C	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	731	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGACCTGCACCGCATGATGAT	0.627000													6	0					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546518	11546518	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:11546518T>G	ENST00000389362.4	-	3	529	c.494A>C	c.(493-495)cAa>cCa	p.Q165P	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTTGTCTCCTTGTGGGGGTGG	0.607000													114	534					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825340	4825340	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:4825340G>A	ENST00000380382.1	-	1	507	c.508C>T	c.(508-510)Cat>Tat	p.H170Y	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.H91Y|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCATGAGCATGAAACCAGAAT	0.527000													14	32					0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90490795	90490795	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:90490795G>A	ENST00000404190.1	+	3	279	c.279G>A	c.(277-279)tgG>tgA	p.W93*		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	93					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)		CCAGTAACTGGATTTGCAACC	0.458000													10	1					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890520	22890520	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:22890520G>A	ENST00000543184.1	-	5	2361	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	PRAME_ENST00000398743.2_Missense_Mutation_p.P500L|PRAME_ENST00000539862.1_Missense_Mutation_p.P484L|PRAME_ENST00000398741.1_Missense_Mutation_p.P500L|PRAME_ENST00000424204.2_Missense_Mutation_p.P484L|PRAME_ENST00000405655.3_Missense_Mutation_p.P500L|PRAME_ENST00000402697.1_Missense_Mutation_p.P500L	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	500	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GCACAGGATGGGCTCCGGGTC	0.542000													79	90					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069045	9069045	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:9069045G>A	ENST00000397910.4	-	3	18604	c.18401C>T	c.(18400-18402)tCa>tTa	p.S6134L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6136	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						GGCTTCAGGTGAAATGTCTGG	0.498000													8	13					0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74535579	74535579	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:74535579C>T	ENST00000553458.1	-	7	934	c.836G>A	c.(835-837)aGg>aAg	p.R279K	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.R266K	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	279						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GGCTTGAACCCTCTTGCCATG	0.413000													15	32					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103175769	103175769	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:103175769T>A	ENST00000424685.2	-	46	7502	c.7343A>T	c.(7342-7344)tAt>tTt	p.Y2448F	RELN_ENST00000343529.5_Missense_Mutation_p.Y2448F|RELN_ENST00000428762.1_Missense_Mutation_p.Y2448F			P78509	RELN_HUMAN	reelin	2448					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)		TTACCTGGTATAAGGAGGGAG	0.438000													14	22					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2774947	2774947	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:2774947G>A	ENST00000380605.2	-	14	2158	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	698					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGGTGAGCACGAAATTGCAGG	0.642000													12	30					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272256	158272256	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:158272256C>T	ENST00000264192.3	-	8	1134	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	CYTIP_ENST00000540637.1_Missense_Mutation_p.R232Q	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	338					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GAGTTGCTTTCGGACACTTCC	0.483000													16	28					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186643773	186643773	+	Silent	SNP	T	T	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:186643773T>G	ENST00000367468.5	-	10	1663	c.1527A>C	c.(1525-1527)gtA>gtC	p.V509V	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	509					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CTCCAACTTCTACCATGGTTT	0.478000													27	27					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454874	84454874	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:84454874C>T	ENST00000377084.2	-	1	1654	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	257	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAGTCCTGTTCGGTGGTTTCA	0.547000													15	38					0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90695113	90695113	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:90695113G>A	ENST00000458208.1	-	9	1475	c.1001C>T	c.(1000-1002)cCt>cTt	p.P334L	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.P334L|ACTA2-AS1_ENST00000437930.3_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	334					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GCGCTCCGGAGGGGCAATGAT	0.498000											OREG0020356	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	29					0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15457401	15457401	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:15457401G>A	ENST00000443029.1	-	4	649	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	METTL6_ENST00000383789.5_Silent_p.L137L|METTL6_ENST00000450816.2_Silent_p.L92L|METTL6_ENST00000383790.3_Silent_p.L137L			Q8TCB7	METL6_HUMAN	methyltransferase like 6	137							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TCTTTAGTCAGATCACACTGG	0.393000													18	18					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593966	123593966	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:123593966C>T	ENST00000340011.5	+	3	699	c.342C>T	c.(340-342)atC>atT	p.I114I	SPAM1_ENST00000223028.7_Silent_p.I114I|SPAM1_ENST00000460182.1_Silent_p.I114I|SPAM1_ENST00000439500.1_Silent_p.I114I|SPAM1_ENST00000402183.2_Silent_p.I114I	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	114					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATGGAGGAATCCCCCAGAAGA	0.398000													18	27					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119469801	119469801	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:119469801A>G	ENST00000273390.5	+	17	2238	c.2161A>G	c.(2161-2163)Aaa>Gaa	p.K721E	MAATS1_ENST00000472117.1_3'UTR	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CGCACAGCGGAAACATATTCT	0.408000													17	9					0	0	1	0	0
MIR1323	100302255	broad.mit.edu	37	19	54175244	54175244	+	RNA	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:54175244G>A	ENST00000408090.1	+	0	23					NR_031568.1																						AAAACTGAGGGGCATTTTCTG	0.483000													31	36					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183895276	183895276	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:183895276C>T	ENST00000304685.3	+	19	2723	c.2262C>T	c.(2260-2262)gcC>gcT	p.A754A	RGL1_ENST00000367531.1_Silent_p.A754A|RGL1_ENST00000360851.3_Silent_p.A719A|RGL1_ENST00000536277.1_Silent_p.A717A|RGL1_ENST00000539189.1_Silent_p.A690A	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	719					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCTTTTATGCCATGAACAGCC	0.448000													26	72					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49178339	49178339	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:49178339C>T	ENST00000340334.7	-	16	1876	c.1508G>A	c.(1507-1509)gGa>gAa	p.G503E	FOLH1_ENST00000256999.2_Missense_Mutation_p.G518E|FOLH1_ENST00000343844.4_Missense_Mutation_p.G210E|FOLH1_ENST00000533034.1_Missense_Mutation_p.G503E|FOLH1_ENST00000356696.3_Missense_Mutation_p.G518E	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	518	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAAATCATTTCCAGATCCCAA	0.328000													13	39					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807984	50807984	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:50807984C>T	ENST00000263046.4	+	7	1249	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	TFAP2B_ENST00000393655.3_Silent_p.S352S			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	352					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACCTGCACTCCCGAAAGAATA	0.537000													28	27					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71739688	71739688	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:71739688C>T	ENST00000318442.5	-	5	2620	c.2130G>A	c.(2128-2130)cgG>cgA	p.R710R		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AAGAGGGGCCCCGCCGGGTAC	0.502000													25	58					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49030720	49030720	+	Silent	SNP	A	A	G	rs145720375	by1000genomes	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:49030720A>G	ENST00000226432.4	+	10	1524	c.1341A>G	c.(1339-1341)ctA>ctG	p.L447L	CWH43_ENST00000513409.1_Silent_p.L420L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	447					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GGTCTAGTCTAGAAAGATCAG	0.413000													7	15					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782308	107782308	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:107782308C>T	ENST00000311955.3	-	1	165	c.111G>A	c.(109-111)gcG>gcA	p.A37A		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	37					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TGTTCTCATTCGCCCACTGCT	0.627000													125	56					0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882154	78882154	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:78882154G>A	ENST00000299565.5	+	5	621	c.421G>A	c.(421-423)Gga>Aga	p.G141R	CHRNA5_ENST00000559554.1_Missense_Mutation_p.G141R|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	141					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TAGTGCAGATGGACGTTTTGA	0.373000													13	20					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774919	47774919	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:47774919C>T	ENST00000376954.1	+	6	1242	c.874C>T	c.(874-876)Cct>Tct	p.P292S	ZNF81_ENST00000338637.7_Missense_Mutation_p.P292S			P51508	ZNF81_HUMAN	zinc finger protein 81	292						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TTTCTTTGCTCCTCAAAAAAT	0.373000													16	6					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123262141	123262141	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:123262141T>A	ENST00000253079.6	+	2	484	c.140T>A	c.(139-141)aTg>aAg	p.M47K	CCDC62_ENST00000537566.1_5'UTR|CCDC62_ENST00000392441.4_Missense_Mutation_p.M47K	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	47						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CTCAATGACATGGTTGCAGTG	0.443000													9	16					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531385	140531385	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:140531385C>T	ENST00000231136.1	+	1	1547	c.1547C>T	c.(1546-1548)tCg>tTg	p.S516L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S380L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		516	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.682000													44	88					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113593146	113593146	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:113593146C>T	ENST00000263341.2	-	3	306	c.96G>A	c.(94-96)atG>atA	p.M32I	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	32					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)	GTCTTACCTTCATCTGTTTAG	0.423000													20	14					0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52194488	52194488	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:52194488C>T	ENST00000395718.2	+	14	1871	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	FRMD6_ENST00000356218.4_Missense_Mutation_p.S529F|FRMD6_ENST00000553556.1_Missense_Mutation_p.S179F|FRMD6_ENST00000344768.5_Missense_Mutation_p.S537F|FRMD6_ENST00000554167.1_Missense_Mutation_p.S460F	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	537						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCAAAGACCTCCACTGATCGA	0.443000													19	61					0	0	1	0	0
NDEL1	81565	broad.mit.edu	37	17	8349084	8349084	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:8349084G>A	ENST00000334527.7	+	3	339	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	NDEL1_ENST00000585098.1_Missense_Mutation_p.E48K|NDEL1_ENST00000299734.7_Missense_Mutation_p.E48K|NDEL1_ENST00000380025.4_Missense_Mutation_p.E48K|NDEL1_ENST00000402554.3_Missense_Mutation_p.E48K	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	48					chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						CAGAGAATTAGAAGCAGAGTT	0.428000													29	29					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769807	247769807	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:247769807G>A	ENST00000320002.2	+	1	952	c.920G>A	c.(919-921)gGa>gAa	p.G307E	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTCTCTCGGGAAAATTGTGA	0.383000													16	43					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37194011	37194011	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:37194011C>T	ENST00000262879.6	+	25	3991	c.3707C>T	c.(3706-3708)tCc>tTc	p.S1236F	RALGAPB_ENST00000397042.3_Missense_Mutation_p.S1233F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.S1015F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.S1236F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1236	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAAGTGATTTCCTCTGAAGAT	0.373000													33	92					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190541511	190541511	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:190541511G>C	ENST00000520309.1	+	2	383	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.E99Q|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.E28Q|ANKAR_ENST00000438402.2_Missense_Mutation_p.E99Q	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	99						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGACTATAGAGAGGTCCATCA	0.413000													26	46					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997262	146997262	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:146997262G>A	ENST00000361727.3	+	9	1894	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	460	Laminin G-like 2.				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)			ACAGTGGCACGAGGTTCGCTT	0.398000										HNSCC(39;0.1)			15	36					0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9524382	9524382	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:9524382G>A	ENST00000592904.1	-	5	3295	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	ZNF266_ENST00000592292.1_Missense_Mutation_p.P407S|ZNF266_ENST00000361151.1_Missense_Mutation_p.P407S|ZNF266_ENST00000590306.1_Missense_Mutation_p.P407S|ZNF266_ENST00000588933.1_Missense_Mutation_p.P407S|ZNF266_ENST00000588221.1_Missense_Mutation_p.P407S|ZNF266_ENST00000361451.2_Missense_Mutation_p.P407S			Q14584	ZN266_HUMAN	zinc finger protein 266	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CATTCAAAAGGCTTCTCTCCA	0.448000													13	23					0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69778902	69778902	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:69778902G>A	ENST00000268802.5	-	8	872	c.843C>T	c.(841-843)agC>agT	p.S281S		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	281						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGAACACTCGGCTCATGTCAG	0.582000													14	19					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813565	106813565	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:106813565G>A	ENST00000407775.2	+	8	1505	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E287K|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E287K|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E150K|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	419					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)			GACCAGAAGCGAACTTCCCCA	0.498000													15	62					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132695931	132695931	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:132695931G>A	ENST00000336749.3	-	1	273	c.46C>T	c.(46-48)Cca>Tca	p.P16S	MOXD1_ENST00000367963.3_Intron			Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	85					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GGAAAATATGGAAAAGAAAAA	0.323000													3	11					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911927	23911927	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:23911927G>A	ENST00000382298.3	-	10	6676	c.6088C>T	c.(6088-6090)Cct>Tct	p.P2030S	SACS_ENST00000382292.3_Missense_Mutation_p.P2030S|SACS_ENST00000402364.1_Missense_Mutation_p.P1280S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2030					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACCGAAGAAGGAAGTTCAACA	0.358000													22	14					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973754	115973754	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:115973754G>A	ENST00000251864.2	+	16	2246	c.2093G>A	c.(2092-2094)gGa>gAa	p.G698E	TDRD1_ENST00000422662.1_Missense_Mutation_p.G302E|TDRD1_ENST00000369280.1_Missense_Mutation_p.G698E|TDRD1_ENST00000369282.1_Missense_Mutation_p.G698E|TDRD1_ENST00000369281.2_Missense_Mutation_p.G641E	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	698					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.G698E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GGTGTGGAAGGAAAAGTAAAT	0.433000													12	19					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62455863	62455863	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:62455863G>A	ENST00000371158.2	+	28	3808	c.3694G>A	c.(3694-3696)Gat>Aat	p.D1232N	INADL_ENST00000316485.6_Missense_Mutation_p.D1232N|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Missense_Mutation_p.D16N	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1232					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAGATATGCAGATCTGCCTGG	0.343000													9	17					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745577	37745577	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:37745577G>A	ENST00000539465.1	+	16	4141	c.3548G>A	c.(3547-3549)gGa>gAa	p.G1183E	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G1183E			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1183						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GACCCTCAAGGACAGAGCAGA	0.493000													10	22					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596732	158596732	+	Silent	SNP	G	G	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:158596732G>T	ENST00000368148.3	-	41	5910	c.5730C>A	c.(5728-5730)acC>acA	p.T1910T	SPTA1_ENST00000368147.3_Silent_p.T1907T|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1910					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			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)					CCAGAGAAGGGGTCTTTTCAT	0.433000													33	83					1.836e-18	1.87951e-18	1	1	0
MFSD6	54842	broad.mit.edu	37	2	191354495	191354495	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:191354495G>A	ENST00000392328.1	+	6	2118	c.1792_splice	c.e6-1	p.G598_splice	MFSD6_ENST00000535751.1_Splice_Site_p.G60_splice|MFSD6_ENST00000281416.7_Splice_Site_p.G598_splice	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	598					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TTTTTATAGGGGCTGCTGCAA	0.463000													8	9					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187316	140187316	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:140187316A>G	ENST00000530339.1	+	1	544	c.544A>G	c.(544-546)Aaa>Gaa	p.K182E	PCDHA4_ENST00000356878.4_Missense_Mutation_p.K182E|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.K182E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	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)			TTCTCTGGAAAAACCACCTGA	0.478000													12	29					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800608	70800608	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:70800608C>T	ENST00000333538.5	+	2	945	c.311C>T	c.(310-312)tCc>tTc	p.S104F	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	104						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTACTCTTTCCCCGGCTGAA	0.463000													11	16					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726769	32726769	+	Silent	SNP	A	A	G	rs114588981	by1000genomes	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:32726769A>G	ENST00000435145.2	-	3	565	c.504T>C	c.(502-504)ggT>ggC	p.G168G	HLA-DQB2_ENST00000437316.2_Silent_p.G168G|HLA-DQB2_ENST00000411527.1_Silent_p.G168G			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	168					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGGACACAACACCGGCTGTCT	0.542000													4	47					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593319	135593319	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:135593319C>T	ENST00000535601.1	+	10	1837	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	HTATSF1_ENST00000218364.4_Missense_Mutation_p.P472L	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	472	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAGGGCTGCCCCAAAAGAGGG	0.448000													21	9					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103347	168103347	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:168103347C>A	ENST00000409195.1	+	9	5534	c.5445C>A	c.(5443-5445)aaC>aaA	p.N1815K	XIRP2_ENST00000295237.9_Missense_Mutation_p.N1815K|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1593K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1640					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						ATGTGCATAACACAGTTAAGG	0.398000													21	36					1.28384e-07	1.29786e-07	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158687447	158687447	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:158687447G>A	ENST00000368146.1	-	1	506	c.507C>T	c.(505-507)ttC>ttT	p.F169F	OR6K3_ENST00000368145.1_Silent_p.F153F			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GCAGGATAAGGAAACCGAAGA	0.512000													32	34					0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89070914	89070914	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:89070914A>C	ENST00000564406.1	-	4	1380	c.1220T>G	c.(1219-1221)cTt>cGt	p.L407R	DET1_ENST00000268148.8_Missense_Mutation_p.L396R|DET1_ENST00000444300.1_Missense_Mutation_p.L407R	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	396						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATTACGAAAAAGGTCACAGAA	0.453000													9	19					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169681219	169681219	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:169681219G>A	ENST00000444448.2	+	5	665	c.189G>A	c.(187-189)acG>acA	p.T63T	NOSTRIN_ENST00000317647.7_Silent_p.T63T|NOSTRIN_ENST00000397209.2_Intron|NOSTRIN_ENST00000397206.2_5'UTR|NOSTRIN_ENST00000458381.2_Silent_p.T63T|NOSTRIN_ENST00000445023.2_5'UTR|NOSTRIN_ENST00000421711.2_Intron			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	63	FCH.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TACAGAACACGAGAAAAAGGT	0.373000													19	11					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40087455	40087455	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:40087455G>A	ENST00000181839.4	+	7	3184	c.2579G>A	c.(2578-2580)cGa>cAa	p.R860Q	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.R860Q	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	860	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GGACTTGCTCGATTGTATAGC	0.313000													34	39					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294300	29294300	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:29294300T>C	ENST00000331664.5	-	1	2827	c.2828A>G	c.(2827-2829)cAg>cGg	p.Q943R		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	943					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTTCTCTGCCTGACTCCAAGT	0.657000													22	29					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56936328	56936328	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:56936328G>A	ENST00000438926.2	+	24	2820	c.2791G>A	c.(2791-2793)Gat>Aat	p.D931N	SLC12A3_ENST00000262502.5_Missense_Mutation_p.D921N|SLC12A3_ENST00000563236.1_Missense_Mutation_p.D922N|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D930N	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	922					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCGTCTGAATGATGGCTTCAA	0.542000													18	26					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35083365	35083365	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:35083365G>A	ENST00000290378.4	-	6	1595	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	314			R -> H (in CMD1R).		apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTCTGCATACGATCAGCAATA	0.438000													69	35					0	0	1	0	0
C11orf58	10944	broad.mit.edu	37	11	16760352	16760352	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:16760352G>A	ENST00000228136.4	+	1	405	c.27G>A	c.(25-27)ccG>ccA	p.P9P	C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000525684.1_Silent_p.P9P			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	9										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						AGTCTCACCCGCATGGGGTGA	0.577000													3	39					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304211	115304211	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:115304211C>T	ENST00000371906.4	+	3	868	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	226					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CTTTAATATTCATAGCAACAT	0.398000													19	8					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121893	12121893	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:12121893C>T	ENST00000379388.2	+	4	2197	c.1865C>T	c.(1864-1866)tCc>tTc	p.S622F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	622					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AATGAGAATTCCCACCAGAAA	0.517000													15	37					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19029785	19029785	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:19029785C>T	ENST00000420770.2	+	7	1233	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	PAX7_ENST00000375375.3_Missense_Mutation_p.P384S|PAX7_ENST00000400661.3_Missense_Mutation_p.P382S	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	384					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CGGCCTGTCTCCTCAGGTAGG	0.612000			T	FOXO1A	alveolar rhabdomyosarcoma								25	25					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12721840	12721840	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:12721840A>G	ENST00000376221.1	+	3	424	c.424A>G	c.(424-426)Act>Gct	p.T142A		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	142						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGCCCGGGAGACTGAATCTGT	0.493000													33	52					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75053411	75053411	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:75053411G>A	ENST00000453279.2	-	12	1833	c.969C>T	c.(967-969)tcC>tcT	p.S323S	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Silent_p.S565S	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	565	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGGCCAGGAGGGAGGTGGGTG	0.607000													82	101					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759103	55759103	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:55759103C>T	ENST00000343399.3	+	1	209	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTGGAAATTTCATTCACGTCT	0.438000													40	55					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95021281	95021281	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:95021281C>T	ENST00000375643.3	-	19	2138		c.e19-1		IARS_ENST00000375629.3_Splice_Site|IARS_ENST00000443024.2_Splice_Site|IARS_ENST00000447699.2_Splice_Site	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase						isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CAGATATAATCTGGAAGAGGG	0.413000													5	15					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29044325	29044325	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:29044325C>A	ENST00000257189.4	+	9	1334	c.1251C>A	c.(1249-1251)aaC>aaA	p.N417K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	417	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGACACTAACAAAGCTGCCT	0.338000													8	26					1.12685e-05	1.13209e-05	1	1	0
ST18	9705	broad.mit.edu	37	8	53084474	53084474	+	Missense_Mutation	SNP	C	C	T	rs150692183		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:53084474C>T	ENST00000276480.7	-	10	1630	c.947G>A	c.(946-948)cGa>cAa	p.R316Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	316						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AACACAACCTCGCTCAGCCTG	0.517000													80	32					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202988	39202988	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:39202988C>T	ENST00000351578.6	-	2	265	c.75G>A	c.(73-75)ggG>ggA	p.G25G	FYB_ENST00000505428.1_Silent_p.G25G|FYB_ENST00000512982.1_Silent_p.G25G|FYB_ENST00000540520.1_Silent_p.G35G|FYB_ENST00000515010.1_Silent_p.G25G	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	25					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATGAGTTTGGCCCTGTGACTC	0.488000													17	16					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252399	46252399	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:46252399A>T	ENST00000510861.1	-	10	1455	c.1282T>A	c.(1282-1284)Ttg>Atg	p.L428M	GABRA2_ENST00000540012.1_Missense_Mutation_p.L433M|GABRA2_ENST00000356504.1_Missense_Mutation_p.L428M|GABRA2_ENST00000507069.1_Missense_Mutation_p.L488M|GABRA2_ENST00000514090.1_Missense_Mutation_p.L428M|GABRA2_ENST00000381620.4_Missense_Mutation_p.L428M			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	428					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTACCAAACAAAACTGGAAAA	0.373000													23	37					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42166927	42166927	+	Silent	SNP	T	T	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:42166927T>C	ENST00000401548.3	+	20	2546	c.2506T>C	c.(2506-2508)Ttg>Ctg	p.L836L	MEI1_ENST00000540880.1_Silent_p.L154L|MEI1_ENST00000400107.1_Silent_p.L204L|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	836							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCTGTTCCAGTTGCTCAGAAG	0.527000													46	91					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957595	121957595	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:121957595C>T	ENST00000379692.4	-	4	2057	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	511	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGGACCTTTTCTGACTTCTTC	0.393000													19	26					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54037695	54037695	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:54037695A>G	ENST00000338154.6	-	8	1310	c.806T>C	c.(805-807)aTc>aCc	p.I269T	PHF8_ENST00000357988.5_Missense_Mutation_p.I305T|PHF8_ENST00000338946.6_Missense_Mutation_p.I269T|PHF8_ENST00000322659.8_Missense_Mutation_p.I269T	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	305	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 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			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGTTGGGCGGATCAGGTAGAA	0.448000													7	4					0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149026	142149026	+	RNA	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:142149026C>T	ENST00000390372.3	-	0	251																											AGCTGAGAATCGATCAGGGAA	0.517000													26	44					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41691629	41691629	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:41691629T>A	ENST00000313860.7	+	25	3154	c.3100T>A	c.(3100-3102)Tat>Aat	p.Y1034N	LIMCH1_ENST00000512632.1_Missense_Mutation_p.Y931N|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Y1007N|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Y848N|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Y861N|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Y853N|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Y1020N|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Y841N|LIMCH1_ENST00000514096.1_Missense_Mutation_p.Y848N|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Y1008N|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Y1418N|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Y867N	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1034	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCTCAATCTCTATTTTCACAT	0.438000													14	26					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148475	34148475	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:34148475C>T	ENST00000346193.3	-	1	1972	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	641										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AACTTTTGGTCCTCATGGGTT	0.438000													22	3					0	0	1	0	0
RPRM	56475	broad.mit.edu	37	2	154335006	154335006	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:154335006C>T	ENST00000325926.3	-	1	316	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	25					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						GCGCACGGCTCGCTCCAGCGC	0.706000													7	14					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745299	84745299	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:84745299G>A	ENST00000372142.2	+	11	1712	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	NRG3_ENST00000556918.1_Missense_Mutation_p.E507K|NRG3_ENST00000372141.2_Missense_Mutation_p.E677K|NRG3_ENST00000404576.2_Missense_Mutation_p.E481K|NRG3_ENST00000404547.1_Missense_Mutation_p.E701K|NRG3_ENST00000537893.1_Missense_Mutation_p.E327K|NRG3_ENST00000545131.1_Missense_Mutation_p.E327K	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	701					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCCAAATCAGAACGAGAGGC	0.478000													7	32					0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206328781	206328781	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:206328781G>A	ENST00000361052.3	+	7	981	c.863G>A	c.(862-864)gGg>gAg	p.G288E	CTSE_ENST00000360218.2_Intron|CTSE_ENST00000358184.2_Missense_Mutation_p.G283E|CTSE_ENST00000432969.2_Intron			P14091	CATE_HUMAN	cathepsin E	288					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GTGGACACAGGGACTTCCCTC	0.612000													14	51					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58126510	58126510	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:58126510G>A	ENST00000357377.3	-	1	32	c.33C>T	c.(31-33)atC>atT	p.I11I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GACCAAGCAGGATGAATTCAC	0.418000													14	43					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818330	7818330	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:7818330G>A	ENST00000329434.2	-	1	190	c.160C>T	c.(160-162)Cct>Tct	p.P54S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAATACATAGGATGATGGAGC	0.403000													20	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596871	179596871	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:179596871C>T	ENST00000589042.1	-	57	17049	c.16825G>A	c.(16825-16827)Gaa>Aaa	p.E5609K	TTN_ENST00000342992.6_Missense_Mutation_p.E4365K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5292K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5292	Ig-like 37.						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)			CCACTGTCTTCGATGCCAACA	0.423000													44	71					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043566	56043566	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:56043566G>A	ENST00000313033.2	+	1	538	c.452G>A	c.(451-453)aGa>aAa	p.R151K		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ATGTCACCCAGAGTCTATGTG	0.443000													106	74					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419966	130419966	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:130419966C>T	ENST00000370904.1	-	10	1037	c.127G>A	c.(127-129)Gag>Aag	p.E43K	IGSF1_ENST00000370900.1_Missense_Mutation_p.E52K|IGSF1_ENST00000370903.3_Missense_Mutation_p.E52K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E43K|IGSF1_ENST00000370901.4_Missense_Mutation_p.E52K|IGSF1_ENST00000361420.3_Missense_Mutation_p.E52K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	52	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTGATGTTCTCCCAAGGGGCC	0.517000													39	14					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50008395	50008395	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:50008395G>A	ENST00000451037.2	-	3	1174	c.234C>T	c.(232-234)ttC>ttT	p.F78F	CA10_ENST00000442502.2_Silent_p.F78F|CA10_ENST00000285273.4_Silent_p.F78F|CA10_ENST00000570565.1_Silent_p.F3F|CA10_ENST00000340813.6_Silent_p.F84F	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	78					brain development			p.F78F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GAAAGGGGTCGAAGATCATGT	0.498000													50	128					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370910	126370910	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:126370910C>T	ENST00000394329.3	+	9	8752	c.8739C>T	c.(8737-8739)tcC>tcT	p.S2913S	FAT4_ENST00000335110.5_Silent_p.S1211S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2913	Cadherin 28.				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						TCATAAAATCCCAATCAGAAT	0.358000													19	34					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167780011	167780011	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:167780011G>A	ENST00000367848.1	-	32	4843	c.4346C>T	c.(4345-4347)tCt>tTt	p.S1449F	ADCY10_ENST00000367851.4_Missense_Mutation_p.S1541F|ADCY10_ENST00000545172.1_Missense_Mutation_p.S1388F|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1541					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						CTGTGTTTCAGAGAGCCGCAA	0.483000													22	19					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74117703	74117703	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:74117703G>A	ENST00000370336.4	+	9	1216	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	DDX43_ENST00000479773.1_3'UTR|DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	353	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TATGGTGGTGGAAATAGAGAT	0.313000													21	22					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43479518	43479518	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:43479518G>A	ENST00000282041.5	-	27	4694	c.4660C>T	c.(4660-4662)Cgg>Tgg	p.R1554W	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1554					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGAGATTCCCGAAGAGCTGCG	0.453000													13	14					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101061633	101061633	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:101061633C>T	ENST00000259455.2	-	17	2874	c.2415G>A	c.(2413-2415)ctG>ctA	p.L805L		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	805					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)	AGTCTTTATCCAGCTACAAGA	0.527000													45	61					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17409124	17409124	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:17409124G>A	ENST00000375486.4	-	10	1137	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Silent_p.I242I|PADI2_ENST00000375481.1_Silent_p.I358I	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	358					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			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)	GGGGGGCCTCGATGTAGCCAA	0.527000													23	23					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616957	77616957	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:77616957C>T	ENST00000521891.2	+	2	1082	c.634C>T	c.(634-636)Cca>Tca	p.P212S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P212S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P212S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P212S|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	212						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)			TCAGGCTTTCCCAAATACCTC	0.468000										HNSCC(33;0.089)			6	39					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168605	50168605	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:50168605G>A	ENST00000284509.6	-	25	3038	c.2897C>T	c.(2896-2898)tCa>tTa	p.S966L	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S966L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	966					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAGGACTAATGAGGTGTAGAT	0.463000													16	37					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120572431	120572431	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:120572431C>T	ENST00000300648.6	-	52	7120	c.7108G>A	c.(7108-7110)Gct>Act	p.A2370T		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2370					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCCCAGAGCATCTGCGGCC	0.612000													28	39					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163291743	163291743	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:163291743T>C	ENST00000332142.5	-	8	2018	c.1919A>G	c.(1918-1920)gAg>gGg	p.E640G	KCNH7_ENST00000328032.4_Missense_Mutation_p.E633G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	640					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAAGATTTTCTCCGAATTCGT	0.353000													21	20					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119699888	119699888	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:119699888G>A	ENST00000327097.4	+	1	147	c.12G>A	c.(10-12)aaG>aaA	p.K4K	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	4					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.K4N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGAGAAATAAGAAAATTCTCA	0.453000													17	23					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24646003	24646003	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:24646003G>A	ENST00000376862.3	+	4	1273	c.640G>A	c.(640-642)Ggg>Agg	p.G214R		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	214					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CGTGGCCAAGGGGGACTTGCA	0.592000													39	124					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652918	1652918	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:1652918G>A	ENST00000252804.4	-	17	2684	c.2634C>T	c.(2632-2634)ttC>ttT	p.F878F		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	878					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)		TGGAGCGCACGAAGAACATGC	0.632000													8	10					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326134	57326134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:57326134G>A	ENST00000326441.9	-	10	4039	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Nonsense_Mutation_p.R1100*|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.R1226*|PEG3_ENST00000598410.1_Nonsense_Mutation_p.R1102*	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1226					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1226>?(2)		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)		AAAAGGCATCGAATGGCCGAC	0.502000													19	17					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83332700	83332700	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:83332700C>T	ENST00000261722.3	-	19	2439	c.2232G>A	c.(2230-2232)agG>agA	p.R744R	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.R763R|AP3B2_ENST00000535348.1_Silent_p.R712R	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	744	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCTTTGTCTTCCTCTTACCAT	0.527000													7	15					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63047810	63047810	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:63047810C>T	ENST00000561311.1	+	36	4786	c.4556C>T	c.(4555-4557)gCc>gTc	p.A1519V	TLN2_ENST00000306829.6_Missense_Mutation_p.A1519V			Q9Y4G6	TLN2_HUMAN	talin 2	1519					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCCAAGACGGCCAACCCAGTA	0.572000													8	26					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21698751	21698751	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:21698751C>T	ENST00000388958.3	+	7	418	c.417C>T	c.(415-417)atC>atT	p.I139I	OTOA_ENST00000388956.4_Silent_p.I60I|OTOA_ENST00000286149.4_Silent_p.I139I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	139					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAGACATCATCATCGACTTAG	0.517000													29	66					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145843328	145843328	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:145843328C>T	ENST00000296702.5	+	5	1145	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P	TCERG1_ENST00000394421.2_Silent_p.P369P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	369	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGTGTTCCCCTTCCTGGCA	0.448000													38	53					0	0	1	0	0
TUBB4B	10383	broad.mit.edu	37	9	140136473	140136473	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:140136473G>A	ENST00000340384.4	+	3	425	c.277_splice	c.e3+1	p.G93_splice		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	93					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										CTTCGTTTTCGGTGAGCCGTG	0.716000													6	14					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872839	51872839	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:51872839C>T	ENST00000371497.5	+	2	3729	c.2842C>T	c.(2842-2844)Cac>Tac	p.H948Y	TSHZ2_ENST00000603338.2_Missense_Mutation_p.H945Y|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.H945Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	948					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTTAGAATCTCACCTGGGTTT	0.502000													53	10					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782025	107782025	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:107782025C>T	ENST00000311955.3	-	1	448	c.394G>A	c.(394-396)Gag>Aag	p.E132K		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	132					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCATCCCTCTCGTACCTGTGG	0.542000													131	59					0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671175	112671175	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:112671175G>A	ENST00000441065.2	+	3	577	c.265G>A	c.(265-267)Gag>Aag	p.E89K	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	89	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CGTGAGGGAGGAGCTCCGGCA	0.522000													11	12					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7064610	7064610	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:7064610G>A	ENST00000456013.1	+	6	951	c.709G>A	c.(709-711)Gag>Aag	p.E237K	PTPN6_ENST00000447931.2_Missense_Mutation_p.E198K|PTPN6_ENST00000399448.1_Missense_Mutation_p.E239K|PTPN6_ENST00000318974.9_Missense_Mutation_p.E237K	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	237					apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GCAGGAGTCCGAGGATACAGC	0.622000													38	57					0	0	1	0	0
TPPP	11076	broad.mit.edu	37	5	666175	666175	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:666175C>T	ENST00000360578.5	-	3	496	c.375G>A	c.(373-375)aaG>aaA	p.K125K	CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	125					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TGAATCGCTTCTTGGCGAGCT	0.637000													23	50					0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75607804	75607804	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:75607804G>A	ENST00000423381.1	-	9	761	c.638C>T	c.(637-639)cCc>cTc	p.P213L	CAMK2G_ENST00000322680.3_Missense_Mutation_p.P213L|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Missense_Mutation_p.P213L|CAMK2G_ENST00000322635.3_Missense_Mutation_p.P213L|CAMK2G_ENST00000351293.3_Missense_Mutation_p.P213L|CAMK2G_ENST00000372765.1_Missense_Mutation_p.P213L|CAMK2G_ENST00000394762.2_Missense_Mutation_p.P213L|CAMK2G_ENST00000444854.2_Intron	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	213	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					ATCCCAGAAGGGAGGATAGCC	0.552000													35	52					0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437836	44437836	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:44437836C>T	ENST00000255108.3	+	5	1347	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	DPH2_ENST00000396758.2_Missense_Mutation_p.P164L|DPH2_ENST00000412950.2_Missense_Mutation_p.P257L	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	392					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TCAGGCTCTCCCTTCCACGTG	0.577000													24	47					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428891	139428891	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:139428891C>T	ENST00000272641.3	-	2	502	c.396G>A	c.(394-396)ggG>ggA	p.G132G		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	132	III.				neuropeptide signaling pathway	extracellular region		p.G132>?(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CAACAATTTTCCCTGTGATGA	0.413000													7	12					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748927	152748927	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:152748927C>A	ENST00000334371.2	+	1	80	c.80C>A	c.(79-81)cCg>cAg	p.P27Q		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	27	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)			tgccccacaccgaagtgcccc	0.657000													41	40					1.96642e-18	2.00984e-18	1	1	0
RNPEP	6051	broad.mit.edu	37	1	201970858	201970858	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:201970858C>T	ENST00000295640.4	+	8	1432	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Silent_p.F424F|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	463					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGGAATATTTCCCTGAGCTTA	0.428000													28	90					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12248673	12248673	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:12248673C>T	ENST00000256194.4	+	15	2278	c.1990C>T	c.(1990-1992)Cca>Tca	p.P664S	MICAL2_ENST00000527546.1_Missense_Mutation_p.P664S|MICAL2_ENST00000379612.3_Missense_Mutation_p.P664S|MICAL2_ENST00000537344.1_Missense_Mutation_p.P664S|MICAL2_ENST00000342902.5_Missense_Mutation_p.P664S	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	664						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGAGGACTCCACGGGTAAG	0.453000													8	21					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207257	58207257	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:58207257C>T	ENST00000377918.3	+	1	603	c.577C>T	c.(577-579)Cca>Tca	p.P193S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	193	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CACCAAGTTCCCAGAACTGGT	0.642000													14	20					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216019187	216019187	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:216019187G>A	ENST00000366943.2	-	45	9420	c.9034C>T	c.(9034-9036)Cat>Tat	p.H3012Y	USH2A_ENST00000307340.3_Missense_Mutation_p.H3012Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3012	Fibronectin type-III 16.				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)		GTGGTTGCATGAAGTCCTGCA	0.448000										HNSCC(13;0.011)			9	26					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063191	72063191	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:72063191G>A	ENST00000305425.4	-	7	2088	c.1666C>T	c.(1666-1668)Cca>Tca	p.P556S	DACH1_ENST00000354591.4_Missense_Mutation_p.P354S|DACH1_ENST00000359684.2_Missense_Mutation_p.P608S|DACH1_ENST00000313174.7_Missense_Mutation_p.P408S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	606					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AAAGGAGATGGAAAACCTGGA	0.468000													56	121					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108836900	108836900	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:108836900C>T	ENST00000232603.5	-	1	89	c.7G>A	c.(7-9)Gac>Aac	p.D3N	MORC1_ENST00000483760.1_Missense_Mutation_p.D3N	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	3					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						GGGTACCTGTCGTCCATGCCC	0.687000													5	3					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187999	140187999	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:140187999G>A	ENST00000530339.1	+	1	1227	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L	PCDHA4_ENST00000356878.4_Silent_p.L409L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.L409L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	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)			CGTTGGTGCTGGACAGTGCCC	0.607000													72	119					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497329	149497329	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:149497329C>T	ENST00000261799.4	-	22	3458	c.2989G>A	c.(2989-2991)Ggc>Agc	p.G997S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	997					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATCGGAGGCCATGGAACCCA	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								19	29					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99995227	99995227	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:99995227C>T	ENST00000314594.5	+	9	2423	c.326C>T	c.(325-327)cCc>cTc	p.P109L	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.P693L|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.P99L|R3HCC1L_ENST00000298999.3_Missense_Mutation_p.P693L	NM_001256619.1	NP_001243548.1			R3H domain and coiled-coil containing 1-like																		AAGATTCGTCCCTTGTCACAG	0.443000													8	26					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167791329	167791329	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:167791329C>T	ENST00000367848.1	-	30	4440	c.3943G>A	c.(3943-3945)Gaa>Aaa	p.E1315K	ADCY10_ENST00000367851.4_Missense_Mutation_p.E1407K|ADCY10_ENST00000545172.1_Missense_Mutation_p.E1254K|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1407					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						CTGTTGTTTTCGTATTGGTGT	0.393000													22	19					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129712753	129712753	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:129712753G>A	ENST00000421865.2	+	36	5238	c.5189G>A	c.(5188-5190)aGg>aAg	p.R1730K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1730	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAACTGAGGAGGAAAAATCTA	0.353000													13	18					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43926743	43926743	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:43926743G>A	ENST00000262726.7	-	31	4588	c.4335C>T	c.(4333-4335)agC>agT	p.S1445S	EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.S1293S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1445	EF-hand 16.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTCATCATAGCTTTTGAACG	0.577000													37	51					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091474	17091474	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:17091474G>A	ENST00000443236.1	-	14	1590	c.1559C>T	c.(1558-1560)tCt>tTt	p.S520F	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	473						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						GGACTTCACAGAAAAATAGGC	0.572000													20	31					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136328179	136328179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:136328179G>A	ENST00000394945.1	-	7	869	c.700C>T	c.(700-702)Caa>Taa	p.Q234*	SPOCK1_ENST00000282223.7_Nonsense_Mutation_p.Q234*	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	234					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTACTGCCTTGGGCTGTGTTG	0.453000													23	31					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592112	81592112	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:81592112C>T	ENST00000394660.2	+	14	2805	c.2445C>T	c.(2443-2445)tcC>tcT	p.S815S	IL16_ENST00000302987.4_Silent_p.S815S|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Silent_p.S114S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	815					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CTGCCTTGTCCACCCAGCCAG	0.582000													6	40					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52442559	52442559	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:52442559G>A	ENST00000460680.1	-	4	657	c.186C>T	c.(184-186)gtC>gtT	p.V62V	BAP1_ENST00000296288.5_Silent_p.V62V	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	62					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCAAGGTAGAGACCTTTCGCC	0.502000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							5	9					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232371	21232371	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:21232371G>A	ENST00000233242.1	-	26	7496	c.7369C>T	c.(7369-7371)Ctg>Ttg	p.L2457L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2457					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)	GGTAGTTCCAGAGCCTGAATT	0.393000													29	51					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152311	151152311	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:151152311G>A	ENST00000367328.1	+	16	2376	c.2064G>A	c.(2062-2064)agG>agA	p.R688R	PLEKHG1_ENST00000358517.2_Silent_p.R688R	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	688					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AATCAGCCAGGGACTCCGTTC	0.488000													22	19					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318776	31318776	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:31318776C>T	ENST00000269197.5	+	11	1408	c.1408C>T	c.(1408-1410)Cat>Tat	p.H470Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGATGAAAATCATAAGACAAT	0.403000													8	6					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15636250	15636250	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:15636250C>T	ENST00000269703.2	+	3	302	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	CYP4F22_ENST00000601005.2_Silent_p.L35L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	35						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCTCTTCTTCCTGTTCCGCCT	0.652000													29	46					0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41932627	41932627	+	Silent	SNP	T	T	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:41932627T>C	ENST00000403412.3	+	11	1524	c.1275T>C	c.(1273-1275)tgT>tgC	p.C425C	NAA16_ENST00000379367.3_Intron|NAA16_ENST00000379406.3_Intron	NM_001110798.1|NM_018527.3	NP_001104268.1|NP_060997.2	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	0					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CTGAATCCTGTTTTTTGAGTA	0.308000													19	15					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163291742	163291742	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:163291742C>T	ENST00000332142.5	-	8	2019	c.1920G>A	c.(1918-1920)gaG>gaA	p.E640E	KCNH7_ENST00000328032.4_Silent_p.E633E	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	640					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAAAGATTTTCTCCGAATTCG	0.348000													21	20					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009215	88009215	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:88009215T>A	ENST00000276127.4	+	3	1059	c.800T>A	c.(799-801)aTc>aAc	p.I267N	CPXCR1_ENST00000373111.1_Missense_Mutation_p.I267N	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	267						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AATGTTATGATCACAAACACC	0.338000													7	1					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34101304	34101304	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:34101304C>G	ENST00000341394.4	+	7	1007	c.818C>G	c.(817-819)cCt>cGt	p.P273R	CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P192R|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P273R|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P273R|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P273R	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	273					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GACCAGGTACCTGAAGCTGGT	0.413000													6	15					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766228	77766228	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:77766228T>A	ENST00000521891.2	+	10	7519	c.7071T>A	c.(7069-7071)gaT>gaA	p.D2357E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2312E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2331E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2312E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2312	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGCCACTGATCAAGTGGTAT	0.493000										HNSCC(33;0.089)			153	68					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8938348	8938348	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:8938348G>T	ENST00000256707.3	-	10	1164	c.983C>A	c.(982-984)aCt>aAt	p.T328N	KIDINS220_ENST00000418530.1_Missense_Mutation_p.T286N|KIDINS220_ENST00000319688.5_Missense_Mutation_p.T329N|KIDINS220_ENST00000427284.1_Missense_Mutation_p.T328N|KIDINS220_ENST00000473731.1_Missense_Mutation_p.T328N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	328					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCATATTTCAGTGTCAGGATT	0.338000													6	17					2.0095e-06	2.02828e-06	1	1	0
RAB3GAP1	22930	broad.mit.edu	37	2	135848614	135848614	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:135848614C>T	ENST00000264158.8	+	4	240	c.197C>T	c.(196-198)tCc>tTc	p.S66F	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S66F|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S22F|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	66						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GATGAAATTTCCTTTGCTGAC	0.328000													16	27					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805093	54805093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:54805093C>T	ENST00000306858.7	+	5	1440	c.1324C>T	c.(1324-1326)Cag>Tag	p.Q442*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	442										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CACACCTGCCCAGAGTTTTGC	0.458000													9	19					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38764993	38764993	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:38764993G>A	ENST00000449082.2	-	18	3279	c.3280C>T	c.(3280-3282)Cct>Tct	p.P1094S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1094					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	atttcctcaggatctAGGCAG	0.612000													11	12					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2740153	2740153	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:2740153C>T	ENST00000312371.4	+	2	436	c.68C>T	c.(67-69)tCc>tTc	p.S23F	AMZ1_ENST00000407112.1_Missense_Mutation_p.S23F	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	23							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GCTCTGGTCTCCACTGACGCA	0.672000													64	98					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137207	40137207	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:40137207G>A	ENST00000278198.2	-	2	2599	c.636C>T	c.(634-636)atC>atT	p.I212I	LRRC4C_ENST00000530763.1_Silent_p.I212I|LRRC4C_ENST00000528697.1_Silent_p.I212I|LRRC4C_ENST00000527150.1_Silent_p.I212I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	212					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)				TGAGGTTAGGGATTTCCCGAA	0.458000													21	29					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85525445	85525445	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:85525445C>T	ENST00000295887.5	+	2	590	c.167C>T	c.(166-168)tCt>tTt	p.S56F		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	56					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AGAACAGATTCTGATATTCCG	0.343000													17	17					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160769763	160769763	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:160769763C>T	ENST00000263285.5	+	2	375	c.345C>T	c.(343-345)tcC>tcT	p.S115S	LY9_ENST00000368039.2_Silent_p.S115S|LY9_ENST00000368041.2_Silent_p.S75S|LY9_ENST00000341032.4_Silent_p.S115S|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	115	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGAGTTACTCCCTGTGCATCA	0.458000													49	32					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172439	207172439	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:207172439G>A	ENST00000374423.3	+	5	3573	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1063							nucleic acid binding|zinc ion binding	p.E1063*(2)|p.E1063K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTTTTGAAGGAAAAACATGT	0.323000													12	9					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37396597	37396597	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:37396597C>T	ENST00000265107.4	+	5	573	c.417C>T	c.(415-417)ctC>ctT	p.L139L	WDR70_ENST00000504564.1_Silent_p.L139L	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	139										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGATATCCTCGGTCCTTTAC	0.408000													12	24					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600779	29600779	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:29600779C>T	ENST00000431530.3	+	1	2032	c.1974C>T	c.(1972-1974)atC>atT	p.I658I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	648	Mediates interaction with MAPRE1.					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						TCACCTACATCAGGAGGAATC	0.557000													10	9					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108464184	108464184	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:108464184C>T	ENST00000265843.4	-	1	190	c.80G>A	c.(79-81)aGg>aAg	p.R27K	EXPH5_ENST00000525344.1_Missense_Mutation_p.R20K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	27					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCCTCATTCCTTTCCAGCAC	0.507000													18	12					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76470899	76470899	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:76470899G>A	ENST00000396423.2	+	7	974	c.850G>A	c.(850-852)Gat>Aat	p.D284N	HNF4G_ENST00000354370.1_Missense_Mutation_p.D247N	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	247					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.D247N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TGTATTTTTTGATCCAGGTTG	0.318000													44	201					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75113453	75113453	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:75113453G>A	ENST00000401621.2	-	3	231	c.111C>T	c.(109-111)ttC>ttT	p.F37F	TTC18_ENST00000340329.3_Silent_p.F37F|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Silent_p.F37F|TTC18_ENST00000310715.3_Silent_p.F37F|TTC18_ENST00000493787.1_5'UTR			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	37							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCACTTGATTGAATTCTGCTC	0.368000													8	41					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3493667	3493667	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:3493667G>A	ENST00000174621.6	-	4	907	c.618C>T	c.(616-618)atC>atT	p.I206I	TRPV1_ENST00000399756.4_Silent_p.I208I|TRPV1_ENST00000425167.2_Silent_p.I208I|TRPV1_ENST00000399759.3_Silent_p.I208I|TRPV1_ENST00000576351.1_Silent_p.I208I|SHPK_ENST00000572705.1_Silent_p.I208I|TRPV1_ENST00000310522.5_Silent_p.I208I|TRPV1_ENST00000571088.1_Silent_p.I208I			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	208					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TCTCGATGGCGATGTGCAGTG	0.632000													17	24					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8525035	8525035	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:8525035C>T	ENST00000537002.1	-	5	662	c.560G>A	c.(559-561)gGa>gAa	p.G187E	PTPRD_ENST00000540109.1_Splice_Site_p.G190_splice|PTPRD_ENST00000360074.4_Splice_Site_p.G181_splice|PTPRD_ENST00000358503.5_Splice_Site_p.G181_splice|PTPRD_ENST00000397617.3_Splice_Site_p.G184_splice|PTPRD_ENST00000486161.1_Splice_Site_p.G190_splice|PTPRD_ENST00000356435.5_Splice_Site_p.G190_splice|PTPRD_ENST00000355233.5_Splice_Site_p.G190_splice|PTPRD_ENST00000397606.3_Splice_Site_p.G184_splice|PTPRD_ENST00000397611.3_Splice_Site_p.G187_splice|PTPRD_ENST00000381196.4_Splice_Site_p.G190_splice			P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	190	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGAAGGGCTCCTGTATGGAT	0.443000										TSP Lung(15;0.13)			37	70					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14805142	14805142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:14805142G>A	ENST00000380881.4	-	20	4101	c.3286C>T	c.(3286-3288)Cag>Tag	p.Q1096*	FREM1_ENST00000380880.3_Nonsense_Mutation_p.Q1095*|FREM1_ENST00000422223.2_Nonsense_Mutation_p.Q1095*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1095					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)		TCTTTCCACTGAAATGAATCT	0.388000													27	38					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113288814	113288814	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:113288814G>A	ENST00000362072.3	-	3	674	c.330C>T	c.(328-330)ttC>ttT	p.F110F	DRD2_ENST00000355319.2_Silent_p.F110F|DRD2_ENST00000346454.3_Silent_p.F110F|DRD2_ENST00000544518.1_Silent_p.F109F|DRD2_ENST00000538967.1_Silent_p.F110F|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Silent_p.F110F	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	110					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CCAGAGTGACGAAGATGTCAC	0.537000													10	3					0	0	1	0	0
MIR890	100126303	broad.mit.edu	37	X	145075816	145075816	+	RNA	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:145075816G>A	ENST00000401256.1	-	0	53					NR_030589.1																						ACTCAGAAAGGGAATAGTTAC	0.468000													32	5					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189899766	189899766	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:189899766C>T	ENST00000374866.3	-	53	4503	c.4229G>A	c.(4228-4230)gGa>gAa	p.G1410E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1410	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GTCCATGTATCCTACACTGTT	0.393000													19	32					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11097649	11097649	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:11097649C>T	ENST00000358026.2	+	5	1113	c.829C>T	c.(829-831)Cct>Tct	p.P277S	SMARCA4_ENST00000541122.2_Missense_Mutation_p.P277S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P277S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P277S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P277S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P277S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P277S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P277S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P277S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	277	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGGCCAGCCTCCTGGAGGGCC	0.617000			"""F, N, Mis"""		NSCLC								8	18					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716344	18716344	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:18716344G>A	ENST00000433979.1	+	27	3807	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1272K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E1231K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1231	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGCAACAACGAAACAAGCCT	0.418000													7	7					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56082633	56082633	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:56082633G>T	ENST00000257880.7	-	23	3304	c.3085C>A	c.(3085-3087)Ctg>Atg	p.L1029M	ITGA7_ENST00000555728.1_Missense_Mutation_p.L1029M|ITGA7_ENST00000452168.2_Missense_Mutation_p.L892M|ITGA7_ENST00000394230.2_Missense_Mutation_p.L989M|ITGA7_ENST00000347027.6_Missense_Mutation_p.L979M|ITGA7_ENST00000257879.6_Missense_Mutation_p.L985M|ITGA7_ENST00000394229.2_Missense_Mutation_p.L985M|ITGA7_ENST00000553804.1_Missense_Mutation_p.L989M			Q13683	ITA7_HUMAN	integrin, alpha 7	1029					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCACCTCCAGAAAGGTGCTG	0.577000													11	14					3.03607e-14	3.0885e-14	1	1	0
LOC101927958	101927958	broad.mit.edu	37	2	239140992	239140992	+	RNA	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:239140992G>A	ENST00000456601.1	+	0	668																											GATGAGCTGTGGGAGTTCTTC	0.527000													14	37					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955522	18955522	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:18955522G>A	ENST00000302797.3	-	1	1034	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	270					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAAGTAAATGATGGGGTTGG	0.478000													16	49					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207815	81207815	+	Missense_Mutation	SNP	C	C	T	rs137903755		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:81207815C>T	ENST00000312465.7	+	3	1022	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	266					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						ACTCAAGTTTCGCTTTGGATA	0.418000													16	19					0	0	1	0	0
SLC25A36	55186	broad.mit.edu	37	3	140695246	140695246	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:140695246C>T	ENST00000446041.2	+	7	1109	c.884C>T	c.(883-885)gCc>gTc	p.A295V	SLC25A36_ENST00000324194.6_Missense_Mutation_p.A296V|SLC25A36_ENST00000453248.2_Missense_Mutation_p.A270V	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	296					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						CCAAACACAGCCATTATGATG	0.408000													12	6					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318511	30318511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:30318511C>T	ENST00000375377.1	-	3	667	c.566G>A	c.(565-567)tGg>tAg	p.W189*		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	189										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGGCTGGTTCCAGCTTTCCAG	0.488000													53	98					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62948146	62948146	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:62948146G>A	ENST00000403374.2	-	7	861	c.558C>T	c.(556-558)ttC>ttT	p.F186F	SLC22A25_ENST00000306494.6_Silent_p.F352F|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	352					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAAAGGACAGGAAACAGATTC	0.373000													20	54					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520746	131520746	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:131520746C>T	ENST00000423981.1	+	2	1211	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	AMER3_ENST00000321420.4_Silent_p.I367I	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CCAGCTCCATCGACACAGGCA	0.632000													14	18					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766226	77766226	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:77766226G>T	ENST00000521891.2	+	10	7517	c.7069G>T	c.(7069-7071)Gat>Tat	p.D2357Y	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2312Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2331Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2312Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2312	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGATGCCACTGATCAAGTGGT	0.488000										HNSCC(33;0.089)			157	71					3.62391e-59	3.72155e-59	1	1	0
NEK9	91754	broad.mit.edu	37	14	75587221	75587221	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:75587221G>A	ENST00000238616.5	-	4	674	c.516C>T	c.(514-516)atC>atT	p.I172I		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	172	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ACCTATGAAGGATTCCAGCTT	0.383000													11	23					0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74241841	74241841	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:74241841C>T	ENST00000261921.7	+	6	1970	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	LOXL1_ENST00000567675.1_3'UTR	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	548	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						AGTCTGACTTCACCAACAACG	0.483000													40	105					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327383	52327383	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:52327383C>T	ENST00000339223.4	+	2	561	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	FPR3_ENST00000595991.1_Silent_p.L128L	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	128					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TATTTGTGTCCTGCATCCAGC	0.468000													9	30					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39839615	39839615	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:39839615G>A	ENST00000303538.8	-	32	4410	c.3871C>T	c.(3871-3873)Cct>Tct	p.P1291S		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1291					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTGTTAATAGGTTTATTTAGA	0.502000													6	14					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114500710	114500710	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:114500710C>T	ENST00000394779.3	-	8	1202	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	C9orf84_ENST00000374283.5_Missense_Mutation_p.E423K|C9orf84_ENST00000318737.4_Missense_Mutation_p.E359K|C9orf84_ENST00000394777.4_Missense_Mutation_p.E320K|C9orf84_ENST00000374287.3_Missense_Mutation_p.E359K	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	359										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTGCCTTTTCCAGATTAATC	0.333000													16	33					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239140993	239140993	+	RNA	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:239140993G>A	ENST00000456601.1	+	0	669																											ATGAGCTGTGGGAGTTCTTCT	0.522000													13	36					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154859807	154859807	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:154859807G>A	ENST00000460393.1	+	11	1105	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	MME_ENST00000492661.1_Missense_Mutation_p.E329K|MME_ENST00000360490.2_Missense_Mutation_p.E329K|MME_ENST00000493237.1_Missense_Mutation_p.E329K|MME_ENST00000462745.1_Missense_Mutation_p.E329K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	329					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTCACAAATGAAATCATGTC	0.343000													22	7					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106016	168106016	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:168106016C>T	ENST00000409195.1	+	9	8203	c.8114C>T	c.(8113-8115)tCc>tTc	p.S2705F	XIRP2_ENST00000295237.9_Missense_Mutation_p.S2705F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2483F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2530					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						AAACCAATTTCCCCAAATTTC	0.368000													20	33					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127566401	127566401	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:127566401G>A	ENST00000373580.3	+	6	948	c.948G>A	c.(946-948)ctG>ctA	p.L316L	OLFML2A_ENST00000288815.5_Silent_p.L102L	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	316										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTTCCTGGCTGGAGCAACTGC	0.632000													12	18					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95013582	95013582	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:95013582C>T	ENST00000357742.4	+	20	2381	c.2381C>T	c.(2380-2382)cCc>cTc	p.P794L	MCTP2_ENST00000451018.3_Missense_Mutation_p.P739L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	794					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGGACGGTCCCCTTCCTTTCA	0.408000													16	66					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18837064	18837064	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:18837064G>A	ENST00000377304.4	-	10	1592	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	NSUN6_ENST00000493816.1_5'UTR	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	392							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGAAGGCAAGGAAATTTTGTC	0.453000													5	15					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368758	22368758	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:22368758C>T	ENST00000332663.2	+	1	281	c.183C>T	c.(181-183)ttC>ttT	p.F61F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		CTATGTATTTCCTGTTGGCTA	0.388000													66	125					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40698476	40698476	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:40698476G>A	ENST00000253055.3	+	1	826	c.538G>A	c.(538-540)Ggt>Agt	p.G180S	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	180	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGCCCGGGGTGGTGCACTGAG	0.637000													15	26					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487389	31487389	+	Silent	SNP	T	T	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:31487389T>C	ENST00000394863.3	+	8	901	c.771T>C	c.(769-771)tgT>tgC	p.C257C	TGFB1I1_ENST00000394858.2_Silent_p.C240C|TGFB1I1_ENST00000361773.3_Silent_p.C240C|TGFB1I1_ENST00000567607.1_Silent_p.C240C	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	257	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCGGAGGCTGTTCCACCGCCC	0.647000													18	38					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60908184	60908184	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:60908184G>A	ENST00000252999.3	-	26	3310	c.3244C>T	c.(3244-3246)Ccg>Tcg	p.P1082S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1082	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTGCGACGGGCTGAGCTGC	0.711000													5	33					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28386575	28386575	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:28386575G>A	ENST00000394835.3	+	14	2785	c.2593G>A	c.(2593-2595)Gct>Act	p.A865T	EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000378738.3_Missense_Mutation_p.A865T|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000394832.2_Missense_Mutation_p.A865T	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	865							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TAGCCAAAATGCTTTCCAAGT	0.423000													21	22					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147231310	147231310	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:147231310C>T	ENST00000271348.2	-	2	198	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	GJA5_ENST00000369237.1_Missense_Mutation_p.E13K	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	13					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTGTGTACTTCCTCCAGGAAA	0.527000													40	29					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28989531	28989531	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:28989531G>A	ENST00000359747.4	+	13	2079	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E684K	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	684					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)			TTGGAGAATTGAAGGGGCCCA	0.517000													15	30					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102709320	102709320	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:102709320C>T	ENST00000299855.5	-	8	1447	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	397	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATGTTTTGTTCTTTTCCTTAT	0.413000													22	10					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31589778	31589778	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:31589778C>T	ENST00000379416.3	-	21	2328	c.2280G>A	c.(2278-2280)gaG>gaA	p.E760E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	760					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGAGCTCCATCTCCCCTGCCT	0.552000													37	64					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6854071	6854071	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:6854071G>A	ENST00000304076.2	+	25	2474	c.2380G>A	c.(2380-2382)Gga>Aga	p.G794R	VAV1_ENST00000599806.1_Missense_Mutation_p.G761R|VAV1_ENST00000602142.1_Missense_Mutation_p.G816R|VAV1_ENST00000596764.1_Missense_Mutation_p.G784R|VAV1_ENST00000539284.1_Missense_Mutation_p.G719R	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	816	SH3 2.				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	p.G816R(1)		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						TAACAAGAAGGGACAGCAAGG	0.602000													24	29					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78907154	78907154	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:78907154C>T	ENST00000545128.1	+	25	3686	c.3148C>T	c.(3148-3150)Cca>Tca	p.P1050S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	750					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCCAGATGATCCAGGAACATG	0.353000													25	29					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56500490	56500490	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:56500490G>C	ENST00000370754.5	-	23	2983	c.2984C>G	c.(2983-2985)gCt>gGt	p.A995G	DST_ENST00000518935.1_Missense_Mutation_p.A491G|DST_ENST00000370769.4_Missense_Mutation_p.A817G|DST_ENST00000370788.2_Missense_Mutation_p.A817G|DST_ENST00000446842.2_Missense_Mutation_p.A491G|DST_ENST00000244364.6_Missense_Mutation_p.A491G|DST_ENST00000361203.3_Missense_Mutation_p.A817G|DST_ENST00000312431.6_Missense_Mutation_p.A817G|DST_ENST00000370765.6_Missense_Mutation_p.A491G|DST_ENST00000421834.2_Missense_Mutation_p.A817G			Q03001	DYST_HUMAN	dystonin	817					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)			GTAATCAGTAGCTTCTTTGGC	0.388000													3	29					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93615439	93615439	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:93615439G>A	ENST00000394236.3	-	9	1262	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	PROS1_ENST00000407433.1_Missense_Mutation_p.R185C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	316	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R316C(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCTGGCAAACGAAATTTTAAA	0.408000													14	29					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372804	24372804	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:24372804G>A	ENST00000005284.3	+	4	1770	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	190					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E190*(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATCATCGCAGAAATTGTAGG	0.468000													38	110					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28979973	28979973	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:28979973C>T	ENST00000282397.4	-	11	1746	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	FLT1_ENST00000541932.1_Missense_Mutation_p.G499R|FLT1_ENST00000539099.1_Missense_Mutation_p.G499R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	499	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATTCTGTTTCCCATGTTGCTG	0.368000													42	34					0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36922607	36922607	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:36922607C>T	ENST00000373674.3	+	1	399	c.71C>T	c.(70-72)cCc>cTc	p.P24L		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	24						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCACAGGCCCCGTTGGAGCC	0.617000													11	55					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210273361	210273361	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:210273361T>G	ENST00000537238.1	+	7	996	c.605T>G	c.(604-606)aTg>aGg	p.M202R	SYT14_ENST00000367015.1_Missense_Mutation_p.M202R|SYT14_ENST00000367019.1_Missense_Mutation_p.M240R|SYT14_ENST00000534859.1_Missense_Mutation_p.M240R|SYT14_ENST00000472886.1_Missense_Mutation_p.M240R|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Missense_Mutation_p.M240R|SYT14_ENST00000422431.1_Missense_Mutation_p.M285R	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	240						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCTTAGGATATGTCAGCTCAA	0.328000													8	25					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013426	73013426	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:73013426A>C	ENST00000308744.6	+	4	1564	c.1466A>C	c.(1465-1467)aAc>aCc	p.N489T	NPFFR2_ENST00000395999.1_Missense_Mutation_p.N390T|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.N387T|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	489					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACATTTCAAAACCCTCATGGG	0.383000													3	44					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47202453	47202453	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:47202453G>A	ENST00000296861.2	-	5	2084	c.1691C>T	c.(1690-1692)tCc>tTc	p.S564F		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	564					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGAGCCGCTGGATGTAGAGTC	0.582000													13	8					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076948	49076948	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:49076948G>A	ENST00000544904.1	-	8	992	c.814C>T	c.(814-816)Cct>Tct	p.P272S	RCBTB2_ENST00000544492.1_Silent_p.I69I|RCBTB2_ENST00000344532.3_Silent_p.I343I|RCBTB2_ENST00000430805.2_Silent_p.I348I			O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	0							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GGTGCGGGAGGATCACGGACT	0.632000													36	49					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257282	105257282	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:105257282G>A	ENST00000507740.1	+	18	3151	c.2915G>A	c.(2914-2916)gGa>gAa	p.G972E	RIMS2_ENST00000262231.10_Missense_Mutation_p.G997E|RIMS2_ENST00000339750.2_Missense_Mutation_p.G94E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1158E|RIMS2_ENST00000436393.2_Missense_Mutation_p.G1176E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1220					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G1176E(1)|p.G972E(1)		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)			AGCTCAGAAGGAAAGTGAGTG	0.498000										HNSCC(12;0.0054)			103	38					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264974	50264974	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:50264974G>A	ENST00000284509.6	-	13	1189	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R350C	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	350					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTCCTAGACGAATTACTTCC	0.368000													7	11					0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253710	32253710	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:32253710G>A	ENST00000332378.4	-	1	164	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	45						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTCTGGAAGGAACTGGGCAA	0.582000													13	27					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8167595	8167595	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:8167595C>T	ENST00000402384.3	-	13	1504	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	ICA1_ENST00000422063.2_Missense_Mutation_p.G442E|ICA1_ENST00000406470.2_Missense_Mutation_p.G413E|ICA1_ENST00000396675.3_Missense_Mutation_p.G413E|ICA1_ENST00000265577.7_Missense_Mutation_p.G412E|ICA1_ENST00000401396.1_Missense_Mutation_p.G401E			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	413					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GTCTGGCTCTCCCAGGGCCAT	0.542000													49	83					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150842480	150842480	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chrX:150842480C>T	ENST00000370357.4	+	15	2242	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	666	Poly-Ser.					nucleus	signal transducer activity	p.S666Y(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GCAATTTCTTCTTCCAGCATT	0.473000													28	11					0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159821052	159821052	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:159821052G>A	ENST00000408953.3	-	2	1953	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	C5orf54_ENST00000523213.1_Silent_p.I482I	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	482										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						caacaaaatcgatattaaaaa	0.333000													22	7					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999107	46999107	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:46999107G>A	ENST00000374314.4	+	1	1182	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	GPRIN2_ENST00000374317.1_Missense_Mutation_p.R76Q			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	76										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AAGCCAGCACGGGCCTCTGGC	0.697000													9	42					0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24621539	24621539	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr22:24621539C>T	ENST00000327365.4	-	9	1727	c.1311G>A	c.(1309-1311)cgG>cgA	p.R437R	GGT5_ENST00000418439.2_Silent_p.R360R|GGT5_ENST00000263112.7_Silent_p.R405R|GGT5_ENST00000398292.3_Silent_p.R437R	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	437				R -> W (in Ref. 1; AAA58503).	glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGCCGGAACCCCGGGGGCATC	0.652000													8	30					0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176764725	176764725	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:176764725G>A	ENST00000303127.7	-	4	699	c.495C>T	c.(493-495)ccC>ccT	p.P165P	LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Silent_p.P165P	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	165	Carbohydrate binding (By similarity).|L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCATCATTGGGGTAGGTGT	0.537000													7	17					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10299931	10299931	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:10299931A>C	ENST00000403437.2	-	32	4561	c.4467T>G	c.(4465-4467)aaT>aaG	p.N1489K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1489					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCATAGACATTCTTCACCT	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				14	20					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53126424	53126424	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:53126424C>T	ENST00000296292.3	-	12	1480	c.1419G>A	c.(1417-1419)ggG>ggA	p.G473G	RP11-894J14.5_ENST00000607203.1_Intron|RFT1_ENST00000394738.3_Silent_p.G434G	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	473					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GGGCAAATGTCCCGAGCAGGA	0.617000													4	2					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117723046	117723046	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:117723046C>T	ENST00000317775.6	-	7	2067	c.1382_splice	c.e7+1	p.R461_splice	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Splice_Site_p.R461_splice	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	461					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCAGCTCACCTGAGGTTCCC	0.547000													5	13					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030498	10030498	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:10030498G>A	ENST00000378380.3	+	6	1610	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.G427G|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GAAAGAAAGGGAAATTTGTCT	0.418000													36	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056625	9056625	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:9056625G>A	ENST00000397910.4	-	3	31024	c.30821C>T	c.(30820-30822)tCc>tTc	p.S10274F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10276	Ser-rich.|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						TGTGCCAGTGGAAATAGTCTC	0.473000													16	20					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	618551	618551	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:618551G>T	ENST00000588649.2	-	17	3443	c.3359C>A	c.(3358-3360)cCg>cAg	p.P1120Q		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1120	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTTGGGCGGGAAGCCGTT	0.657000													5	18					1.23904e-05	1.24288e-05	1	1	0
N6AMT1	29104	broad.mit.edu	37	21	30254508	30254508	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:30254508G>A	ENST00000303775.5	-	3	311	c.286C>T	c.(286-288)Cac>Tac	p.H96Y	N6AMT1_ENST00000351429.3_Missense_Mutation_p.H96Y	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	96					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGTTGAATGTGAACTTTGTTA	0.358000													8	23					0	0	1	0	0
IGHV3-74	28408	broad.mit.edu	37	14	107218852	107218852	+	RNA	SNP	C	C	T	rs138283102	by1000genomes	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:107218852C>T	ENST00000424969.2	-	0	410																											TTCCCTGGAGCTTGGCGGACC	0.587000													41	74					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44145024	44145024	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:44145024G>A	ENST00000398776.1	+	12	1321	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	CAPN11_ENST00000542245.1_Missense_Mutation_p.G428E	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	428	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTTCCTGAGGGGGATGACCCA	0.612000													7	14					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	75009635	75009635	+	Missense_Mutation	SNP	G	G	A	rs138299635		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:75009635G>A	ENST00000370891.2	+	27	2796	c.2780G>A	c.(2779-2781)cGa>cAa	p.R927Q	TNNI3K_ENST00000465473.1_3'UTR|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R826Q|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R927Q	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CATTCTTGCCGAAATAGTAGC	0.458000													5	18					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067476	103067476	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:103067476G>A	ENST00000264260.2	+	11	1968	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	IL18RAP_ENST00000409369.1_Missense_Mutation_p.G318E	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	460	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTGGCTCCAGGAGGAGGTAAG	0.403000													18	28					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48435787	48435787	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:48435787C>T	ENST00000017003.2	+	10	2210	c.2161C>T	c.(2161-2163)Ccc>Tcc	p.P721S	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	721					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACTGAGCCGGCCCCTGCGGCC	0.582000													14	38					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323343	31323343	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:31323343G>A	ENST00000269197.5	+	12	3531	c.3531G>A	c.(3529-3531)gaG>gaA	p.E1177E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCTCCGGGAGACCACCACTG	0.448000													10	16					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161059076	161059076	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:161059076G>A	ENST00000368012.3	-	1	313	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	4					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCTCCCAGGGACAGGGGCAT	0.582000													24	88					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570174	61570174	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:61570174A>C	ENST00000457692.1	+	9	1216	c.883A>C	c.(883-885)Acc>Ccc	p.T295P	SERPINB2_ENST00000299502.4_Missense_Mutation_p.T295P	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	295					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAACAAGTGGACCAGCAAAGA	0.368000													5	10					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35960399	35960399	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:35960399G>A	ENST00000490799.1	-	6	1033	c.680C>T	c.(679-681)tCt>tTt	p.S227F	SLC26A8_ENST00000394602.2_Intron|SLC26A8_ENST00000355574.2_Missense_Mutation_p.S227F	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	227					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACTCATTGCAGACTCCGGAAG	0.483000													29	79					0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122720899	122720899	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:122720899C>T	ENST00000227348.4	+	2	217	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	57	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCAGGGTTCACCATTTTTTTA	0.488000													16	4					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135474	55135474	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:55135474G>A	ENST00000314706.3	+	1	115	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAATGTGACTGAATTTATCCT	0.398000													7	26					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231489	21231489	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:21231489C>T	ENST00000233242.1	-	26	8378	c.8251G>A	c.(8251-8253)Gaa>Aaa	p.E2751K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2751					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)	GTAGGTACTTCAATTGTGTGT	0.398000													41	67					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285036	55285036	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:55285036C>T	ENST00000336077.6	+	3	362	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.P108S|CTB-61M7.1_ENST00000400864.3_RNA	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	108					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.P108>?(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TACTCACTCCCCCTATCAGGT	0.517000													69	27					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74472546	74472546	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:74472546C>T	ENST00000323940.5	-	19	2124	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	STRA6_ENST00000449139.2_Missense_Mutation_p.G627R|STRA6_ENST00000574278.1_Missense_Mutation_p.G642R|STRA6_ENST00000416286.3_Missense_Mutation_p.G619R|STRA6_ENST00000395105.4_Missense_Mutation_p.G627R|STRA6_ENST00000563965.1_Missense_Mutation_p.G666R|STRA6_ENST00000535552.1_Missense_Mutation_p.G664R|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.G618R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	627					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGCCTAGCTCCCTTGGCCATG	0.637000													49	87					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447882	96447882	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:96447882G>A	ENST00000285979.6	+	3	531	c.331_splice	c.e3-1	p.G111_splice	CYP2C18_ENST00000339022.5_Splice_Site_p.G111_splice	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GTTCTGCTAGGAATCCTTTTC	0.517000													7	33					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021113	45021113	+	RNA	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:45021113C>T	ENST00000454753.1	-	0	1481							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)				CCCTGATAATCAGCTGCTCAC	0.602000													4	3					0	0	1	0	0
PDZD9	255762	broad.mit.edu	37	16	21995641	21995641	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:21995641C>T	ENST00000286143.6	-	5	877	c.556G>A	c.(556-558)Gat>Aat	p.D186N	PDZD9_ENST00000537222.2_Missense_Mutation_p.D188N|PDZD9_ENST00000424898.2_Missense_Mutation_p.D248N			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	248										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TGGGCACAATCTTCCAGCCAA	0.453000													81	237					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67149467	67149467	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:67149467G>A	ENST00000269081.4	-	35	5024	c.4115C>T	c.(4114-4116)cCc>cTc	p.P1372L	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1372	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTGCCCCTCGGGGTCCATCCC	0.483000													39	81					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39776358	39776358	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:39776358C>T	ENST00000518237.1	+	4	967	c.328C>T	c.(328-330)Cct>Tct	p.P110S	IDO1_ENST00000522495.1_Missense_Mutation_p.P110S|RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	110					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TATTGCTGTTCCTTACTGCCA	0.338000													14	6					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31349771	31349771	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:31349771G>A	ENST00000597505.1	-	1	56	c.57C>T	c.(55-57)tcC>tcT	p.S19S	DCDC1_ENST00000452803.1_Silent_p.S19S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	19					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGTCAAGAGGGATAAGGAAG	0.338000													19	19					0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46919095	46919095	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:46919095C>T	ENST00000258947.3	+	2	127	c.26C>T	c.(25-27)cCc>cTc	p.P9L	CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P9L|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P9L|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P9L|CALCOCO2_ENST00000508679.1_Intron	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	9					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AAAGATCCCCCCACATCAGCT	0.463000													16	11					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9402034	9402034	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:9402034G>A	ENST00000378501.2	+	23	2224	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	PLCB4_ENST00000378473.3_Missense_Mutation_p.E749K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E737K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E737K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E737K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E749K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	737	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.E737K(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CATACGTAAGGAATTCCGAAC	0.408000													18	45					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40698477	40698477	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:40698477G>A	ENST00000253055.3	+	1	827	c.539G>A	c.(538-540)gGt>gAt	p.G180D	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	180	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCCGGGGTGGTGCACTGAGC	0.632000													14	26					0	0	1	0	0
SAMD12	401474	broad.mit.edu	37	8	119391806	119391806	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:119391806G>A	ENST00000409003.4	-	4	584	c.456C>T	c.(454-456)ctC>ctT	p.L152L	SAMD12_ENST00000314727.4_Silent_p.L152L|AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000527515.1_5'UTR	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	152										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TACCTTGTGTGAGTAACTGTA	0.493000													14	72					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49689773	49689773	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:49689773C>T	ENST00000296452.4	+	5	2898	c.2784C>T	c.(2782-2784)ctC>ctT	p.L928L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	928					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGGTGGGCTCCGTCGCTTCA	0.642000													18	36					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914770	119914770	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:119914770G>A	ENST00000331113.4	+	1	1049	c.84G>A	c.(82-84)ccG>ccA	p.P28P		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	28					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)					GGCCTATGCCGGCTCCCCCGA	0.622000													71	93					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75596704	75596704	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:75596704G>A	ENST00000502798.2	+	11	2229	c.1787G>A	c.(1786-1788)gGg>gAg	p.G596E	SV2C_ENST00000322285.7_Missense_Mutation_p.G596E|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	596					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GTATTGCCAGGGAACATTGTG	0.433000													27	55					0	0	1	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84562998	84562998	+	RNA	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:84562998C>T	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							ATTTCCAATTCCTTTTCCCAT	0.448000													3	4					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17865973	17865973	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:17865973G>A	ENST00000594202.1	+	0	279				FCHO1_ENST00000389133.4_De_novo_Start_InFrame|FCHO1_ENST00000596536.1_De_novo_Start_InFrame|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000596951.1_De_novo_Start_InFrame|FCHO1_ENST00000595033.1_Intron|FCHO1_ENST00000252771.7_De_novo_Start_InFrame|FCHO1_ENST00000600676.1_De_novo_Start_InFrame|FCHO1_ENST00000539407.1_De_novo_Start_InFrame	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1											NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGACCATCAGGATGTCGTATT	0.552000													31	57					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200486	52200486	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:52200486C>T	ENST00000354534.5	+	27	5394	c.5216C>T	c.(5215-5217)cCc>cTc	p.P1739L	SCN8A_ENST00000545061.1_Missense_Mutation_p.P1698L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1739					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGTGGGAACCCCTCAGTGGGC	0.512000													24	33					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282941	152282941	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:152282941C>T	ENST00000368799.1	-	3	4456	c.4421G>A	c.(4420-4422)cGa>cAa	p.R1474Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1474	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)			AGAGCTGTTTCGTGCCTGCTC	0.577000									Ichthyosis				102	254					0	0	1	0	0
SPOCK2	9806	broad.mit.edu	37	10	73822562	73822562	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:73822562C>T	ENST00000373109.2	-	11	1675	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	SPOCK2_ENST00000317376.4_Missense_Mutation_p.E411K|SPOCK2_ENST00000536168.1_Missense_Mutation_p.E411K	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	411	Glu-rich.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCTCGCcctcctcctcctcg	0.667000													4	23					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881228	33881228	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:33881228C>A	ENST00000504830.1	-	2	820	c.485G>T	c.(484-486)gGa>gTa	p.G162V	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.G162V|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G162V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	162					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACTCACCAGTCCATGGCAGGC	0.582000										HNSCC(64;0.19)			18	25					0.00741294	0.00741294	1	1	0
PAK7	57144	broad.mit.edu	37	20	9525110	9525110	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:9525110T>G	ENST00000378429.3	-	9	2321	c.1775A>C	c.(1774-1776)cAa>cCa	p.Q592P	PAK7_ENST00000353224.5_Missense_Mutation_p.Q592P|PAK7_ENST00000378423.1_Missense_Mutation_p.Q592P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	592	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTGGAAACTTGAGCACAGAA	0.423000													24	60					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689509	109689509	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:109689509C>T	ENST00000277225.5	+	3	3605	c.3316C>T	c.(3316-3318)Cca>Tca	p.P1106S	ZNF462_ENST00000457913.1_Missense_Mutation_p.P1106S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1106					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACAACCCCCGCCACCAGACCT	0.532000													39	26					0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149356	142149356	+	RNA	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:142149356G>A	ENST00000390372.3	-	0	43																											GCTACCAGGAGACAAAGCAGC	0.612000													17	25					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35454097	35454097	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:35454097G>A	ENST00000378880.2	-	11	2415	c.1970C>T	c.(1969-1971)cCt>cTt	p.P657L	PAMR1_ENST00000278360.3_Missense_Mutation_p.P674L|PAMR1_ENST00000532848.1_Missense_Mutation_p.P617L|PAMR1_ENST00000378878.3_Missense_Mutation_p.P546L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	657	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GATATCAGAAGGGGCAGTGGG	0.592000													17	20					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24261599	24261599	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:24261599C>T	ENST00000538205.1	+	14	1714	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.T389T|ADAMDEC1_ENST00000256412.4_Silent_p.T468T	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	468	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAAACCATACCACGTAAGACC	0.413000													8	3					0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128066208	128066208	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:128066208G>A	ENST00000409947.1	-	16	1869	c.1587C>T	c.(1585-1587)agC>agT	p.S529S	MAP3K2_ENST00000344908.5_Silent_p.S529S			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	529	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TGACTTCAGGGCTCATCCAGT	0.488000													79	114					0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100615720	100615720	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:100615720C>T	ENST00000305631.5	-	2	985	c.410G>A	c.(409-411)gGc>gAc	p.G137D	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	137					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CAGCCCGTCGCCGCCCAGGTA	0.677000													8	8					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104846	168104846	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:168104846C>T	ENST00000409195.1	+	9	7033	c.6944C>T	c.(6943-6945)cCt>cTt	p.P2315L	XIRP2_ENST00000295237.9_Missense_Mutation_p.P2315L|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2093L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2140					actin cytoskeleton organization	cell junction	actin binding	p.P2315H(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCTCCACCTCCTTTGATGATG	0.458000													31	54					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20842691	20842691	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:20842691G>A	ENST00000262715.5	-	44	6408	c.6368C>T	c.(6367-6369)tCc>tTc	p.S2123F	TEP1_ENST00000545983.1_Missense_Mutation_p.S461F|TEP1_ENST00000556935.1_Missense_Mutation_p.S2015F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2123					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)		ACTGGAGCAGGATATCTACAG	0.542000													5	4					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809369	31809369	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:31809369C>T	ENST00000446923.2	+	7	1449	c.1058C>T	c.(1057-1059)cCt>cTt	p.P353L	ZEB1_ENST00000361642.5_Missense_Mutation_p.P370L|ZEB1_ENST00000560721.2_Missense_Mutation_p.P349L|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P302L|ZEB1_ENST00000320985.10_Missense_Mutation_p.P369L	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	369					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGTTCAACCCCTTTACAAAAT	0.448000													4	32					0	0	1	0	0
NXPH3	11248	broad.mit.edu	37	17	47656352	47656352	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:47656352C>T	ENST00000328741.5	+	2	811	c.449C>T	c.(448-450)cCc>cTc	p.P150L	NXPH3_ENST00000513748.1_Missense_Mutation_p.P150L	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	150	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					AGCCTCGTGCCCCCCAGTAAA	0.537000													16	42					0	0	1	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494419	106494419	+	RNA	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:106494419C>T	ENST00000390597.2	-	0	92																											GGACCAGACTCCTTCAAGGTG	0.532000													11	17					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61308142	61308142	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:61308142C>T	ENST00000341074.5	-	5	550	c.435G>A	c.(433-435)aaG>aaA	p.K145K	SERPINB4_ENST00000356424.6_Silent_p.K145K	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGTTAATCTTCTTTCGACTTT	0.408000													6	18					0	0	1	0	0
RP11-159L20.2	0	broad.mit.edu	37	14	31290746	31290746	+	RNA	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:31290746C>T	ENST00000554665.1	-	0	208																											CACCTCAGATCGCCCCTACAG	0.502000													8	14					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49568307	49568307	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:49568307C>T	ENST00000545947.1	+	6	1085	c.363C>T	c.(361-363)ccC>ccT	p.P121P	DAG1_ENST00000538711.1_Silent_p.P121P|DAG1_ENST00000515359.2_Silent_p.P121P|DAG1_ENST00000308775.2_Silent_p.P121P|DAG1_ENST00000541308.1_Silent_p.P121P|DAG1_ENST00000539901.1_Silent_p.P121P|DAG1_ENST00000479935.1_3'UTR	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	121	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGGGCCTCCCCCTTGACACTG	0.572000													14	14					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97531468	97531468	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:97531468G>A	ENST00000305476.5	-	5	487	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	119	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCATTGTAGGGCTGCAGGAAG	0.622000													6	15					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48623015	48623015	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:48623015C>T	ENST00000328333.8	-	31	3976	c.3869G>A	c.(3868-3870)gGa>gAa	p.G1290E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1290E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1290	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTGGCACTTCCAGGGGGCCC	0.597000													39	56					0	0	1	0	0
AGAP5	729092	broad.mit.edu	37	10	75434712	75434712	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:75434712G>A	ENST00000443782.2	-	7	1762	c.1637C>T	c.(1636-1638)tCc>tTc	p.S546F	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.S569F			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	569	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S546F(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CTCATATTTGGAACGGATCCA	0.587000													48	52					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538053	4538053	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:4538053G>A	ENST00000306390.6	-	2	1403	c.943C>T	c.(943-945)Cag>Tag	p.Q315*	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	315	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTGGGCCTGAAGCCAACGA	0.587000													36	30					0	0	1	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32833734	32833734	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:32833734C>T	ENST00000420878.3	-	5	1620	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.E389K|ZNF397_ENST00000261333.6_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	389					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						TTCCCACATTCTCCACATTCA	0.458000													33	29					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128330304	128330304	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:128330304G>A	ENST00000368227.3	-	14	2670	c.2304C>T	c.(2302-2304)ctC>ctT	p.L768L	PTPRK_ENST00000368215.3_Silent_p.L767L|PTPRK_ENST00000368207.3_Silent_p.L768L|PTPRK_ENST00000368210.3_Silent_p.L768L|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Silent_p.L768L|PTPRK_ENST00000368213.5_Silent_p.L768L|PTPRK_ENST00000368226.4_Silent_p.L768L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	767					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGACAACTAGGAGAAGGAGGA	0.408000													28	33					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209796416	209796416	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:209796416G>A	ENST00000391911.1	-	16	2856	c.2467C>T	c.(2467-2469)Ccc>Tcc	p.P823S	LAMB3_ENST00000356082.4_Missense_Mutation_p.P823S|LAMB3_ENST00000367030.3_Missense_Mutation_p.P823S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	823	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCGGCCCTGGGAAGGACACCC	0.637000													65	41					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750014	119750014	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:119750014C>T	ENST00000541757.1	+	16	1360	c.980C>T	c.(979-981)tCt>tTt	p.S327F	MARCO_ENST00000327097.4_Missense_Mutation_p.S405F			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	405	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACAGGATCTTCTGGGGAGCAA	0.453000													9	11					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68797746	68797746	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr4:68797746C>T	ENST00000508048.1	-	4	317	c.282G>A	c.(280-282)aaG>aaA	p.K94K	TMPRSS11A_ENST00000334830.7_Silent_p.K98K|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Silent_p.K95K			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	98	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TATAATTTTTCTTCCAGGCTG	0.348000													10	18					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832286	35832286	+	Silent	SNP	T	T	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:35832286T>A	ENST00000085219.5	+	8	1614	c.1548T>A	c.(1546-1548)ctT>ctA	p.L516L	CD22_ENST00000544992.2_Silent_p.L516L|CD22_ENST00000341773.6_Silent_p.L339L|CD22_ENST00000419549.2_Silent_p.L344L|CD22_ENST00000594250.1_Silent_p.L339L|CD22_ENST00000536635.2_Silent_p.L428L|CD22_ENST00000270311.6_Silent_p.L396L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	516	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCAAGCCCCTTTCCGAGATTC	0.572000													20	27					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24749885	24749885	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:24749885C>T	ENST00000545231.1	-	8	1478	c.328G>A	c.(328-330)Ggg>Agg	p.G110R	DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Missense_Mutation_p.G110R|DFNA5_ENST00000342947.3_Missense_Mutation_p.G274R|DFNA5_ENST00000409775.3_Missense_Mutation_p.G274R|DFNA5_ENST00000419307.1_Missense_Mutation_p.G110R			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	274					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GAAGATATCCCATGCGCAGCA	0.512000													25	33					0	0	1	0	0
STEAP1	26872	broad.mit.edu	37	7	89791381	89791381	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:89791381C>T	ENST00000297205.2	+	4	951	c.751C>T	c.(751-753)Cac>Tac	p.H251Y	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	251	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GAGAGAATTTCACTATATTCA	0.333000													13	13					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26402291	26402291	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr13:26402291G>A	ENST00000381655.2	+	28	2857	c.2715G>A	c.(2713-2715)caG>caA	p.Q905Q	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Intron	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	865					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTCTGGGCAGATTTTATTTG	0.373000													65	71					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616449	77616449	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:77616449G>A	ENST00000521891.2	+	2	574	c.126G>A	c.(124-126)agG>agA	p.R42R	ZFHX4_ENST00000455469.2_Silent_p.R42R|ZFHX4_ENST00000518282.1_Silent_p.R42R|ZFHX4_ENST00000050961.6_Silent_p.R42R|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	42						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)			AGCCTGACAGGGAAAACAGCT	0.498000										HNSCC(33;0.089)			11	53					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67225864	67225864	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:67225864G>A	ENST00000438189.2	+	6	703	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	CABP4_ENST00000325656.5_Missense_Mutation_p.R225Q			P57796	CABP4_HUMAN	calcium binding protein 4	225					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGGGATGGACGAATTACGGTG	0.602000													24	68					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038783	11038783	+	RNA	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr21:11038783C>T	ENST00000470054.1	-	0	1420									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGCTGGTTTACCCATGCCAGT	0.408000													12	175					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395735	154395735	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:154395735G>A	ENST00000435029.4	+	1	2476	c.2316G>A	c.(2314-2316)aaG>aaA	p.K772K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	772	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGACAGAAAGATCCTGGCTC	0.463000													10	14					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47317392	47317392	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr20:47317392G>A	ENST00000396220.1	-	7	838	c.816C>T	c.(814-816)ctC>ctT	p.L272L	PREX1_ENST00000371941.3_Silent_p.L272L			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	272	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTTGCAGGAGGAGCTGAGTGC	0.527000													214	78					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920058	51920058	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:51920058T>C	ENST00000353836.5	-	3	789	c.568A>G	c.(568-570)Acc>Gcc	p.T190A	SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.T142A|SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.T190A|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.T190A|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.T190A	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	190	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GTTGGTTTGGTTCCTTGGGAG	0.597000													7	23					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	66001405	66001405	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:66001405C>T	ENST00000320580.4	+	16	2021	c.1988C>T	c.(1987-1989)cCc>cTc	p.P663L	PACS1_ENST00000529757.1_Missense_Mutation_p.P199L	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	663					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTCATCATCCCCCTCGGTAAA	0.597000													19	19					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41831811	41831811	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:41831811C>T	ENST00000539469.2	+	1	327	c.65C>T	c.(64-66)tCc>tTc	p.S22F	PDZRN4_ENST00000402685.2_Intron|PDZRN4_ENST00000298919.7_5'UTR|RP11-413B19.2_ENST00000547168.1_RNA	NM_013377.3	NP_037509.3	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	280							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TATGAAGTTTCCCAGGTGAGT	0.408000													33	50					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505144	37505144	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:37505144C>T	ENST00000374660.1	+	38	3193	c.3094C>T	c.(3094-3096)Cat>Tat	p.H1032Y	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H913Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H913Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1037						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGATACAGTTCATTCTTGTGA	0.328000													16	18					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327573	16327573	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:16327573G>A	ENST00000244769.4	-	8	1905	c.969C>T	c.(967-969)gtC>gtT	p.V323V	ATXN1_ENST00000436367.1_Silent_p.V323V	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	323					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CACCGTTCAGGACCTCCTTGG	0.662000													29	71					0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875258	51875258	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:51875258G>A	ENST00000595217.1	-	2	521	c.356C>T	c.(355-357)tCc>tTc	p.S119F	NKG7_ENST00000600427.1_Intron|NKG7_ENST00000221978.5_Silent_p.I125I			Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	0						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAAGGTCTGGATCTGGGGGT	0.607000													34	34					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39723941	39723941	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:39723941C>T	ENST00000246662.4	-	7	1521	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R	KRT9_ENST00000588431.1_Missense_Mutation_p.G253R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	486	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				gatcctcttccataactgcct	0.537000													5	14					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998520	72998520	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr18:72998520G>A	ENST00000322038.5	+	2	1607	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	TSHZ1_ENST00000580243.1_Silent_p.A386A	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	386						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAAAGCAGCGAACCCGTACG	0.632000													21	31					0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709905	128709905	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:128709905G>A	ENST00000392665.2	-	2	378	c.234C>T	c.(232-234)ctC>ctT	p.L78L	KCNJ1_ENST00000440599.2_Silent_p.L78L|KCNJ1_ENST00000392666.1_Silent_p.L78L|KCNJ1_ENST00000392664.2_Silent_p.L97L|KCNJ1_ENST00000324036.3_Silent_p.L78L	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	97					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CATACCACAGGAGACCAAAGA	0.458000													15	9					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52189567	52189567	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:52189567C>T	ENST00000282588.6	+	9	1444	c.986C>T	c.(985-987)tCa>tTa	p.S329L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	329	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAAATAAAATCAATTGCAAGT	0.348000													18	35					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976345	131976345	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:131976345G>A	ENST00000356920.5	+	1	464	c.370G>A	c.(370-372)Gat>Aat	p.D124N	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.D124N|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	124							ATP binding										GGGAGACTACGATGACAGCGC	0.587000													26	62					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21798502	21798502	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:21798502C>T	ENST00000206660.6	+	19	3194	c.3194C>T	c.(3193-3195)tCc>tTc	p.S1065F	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.S1027F|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.S391F|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.S722F|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.S424F|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.S1065F			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1065	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATGACATTATCCCATTCAGCA	0.418000													17	27					0	0	1	0	0
SPOCK2	9806	broad.mit.edu	37	10	73822563	73822563	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr10:73822563C>T	ENST00000373109.2	-	11	1674	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	SPOCK2_ENST00000317376.4_Silent_p.E410E|SPOCK2_ENST00000536168.1_Silent_p.E410E	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	410	Glu-rich.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTCGCcctcctcctcctcgg	0.662000													4	23					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95013583	95013583	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:95013583C>T	ENST00000357742.4	+	20	2382	c.2382C>T	c.(2380-2382)ccC>ccT	p.P794P	MCTP2_ENST00000451018.3_Silent_p.P739P	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	794					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGACGGTCCCCTTCCTTTCAT	0.403000													16	66					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155102424	155102424	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:155102424G>A	ENST00000392825.3	+	7	1353	c.786G>A	c.(784-786)ctG>ctA	p.L262L	GALNT13_ENST00000409237.1_Silent_p.L262L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	262						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ACTGGAAACTGAATTTCCGCT	0.408000													14	16					0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36922608	36922608	+	Silent	SNP	C	C	T	rs148879002	byFrequency	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:36922608C>T	ENST00000373674.3	+	1	400	c.72C>T	c.(70-72)ccC>ccT	p.P24P		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	24						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACAGGCCCCGTTGGAGCCC	0.617000													11	55					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231256835	231256835	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:231256835G>A	ENST00000243810.6	+	12	998	c.998G>A	c.(997-999)gGa>gAa	p.G333E	SP140L_ENST00000444636.1_Missense_Mutation_p.G333E|SP140L_ENST00000415673.2_Missense_Mutation_p.G333E|SP140L_ENST00000396563.4_Missense_Mutation_p.G298E			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	333	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ACTGAGGATGGAAAATGGTTC	0.532000													17	40					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34180292	34180292	+	Silent	SNP	A	A	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:34180292A>G	ENST00000373381.4	-	21	3477	c.3301T>C	c.(3301-3303)Ttg>Ctg	p.L1101L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1061	CUB 7.					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)				GAGAAGGTCAAGGTGTCGCCC	0.657000													45	69					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11574556	11574556	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:11574556C>T	ENST00000294484.6	+	4	1564	c.1426C>T	c.(1426-1428)Ctg>Ttg	p.L476L	PTCHD2_ENST00000389575.3_Silent_p.L476L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	476	SSD.				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)		CATTGCTGCCCTGGTCTACAT	0.587000													17	34					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777605	123777605	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:123777605C>T	ENST00000321355.2	+	1	497	c.467C>T	c.(466-468)gCt>gTt	p.A156V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TTCACTGATGCTGTGATCCAT	0.468000													43	20					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42828442	42828442	+	Missense_Mutation	SNP	C	C	T	rs139031286	byFrequency	TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:42828442C>T	ENST00000315005.3	+	14	1807	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	557					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GTGCCGGGTTCGGGTGCCCTC	0.552000													22	14					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39118815	39118815	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:39118815C>T	ENST00000355612.2	-	4	744	c.708_splice	c.e4-1	p.E237_splice	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	237	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GAATTGATTTCCTAAGGAAAG	0.408000													28	38					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135615	55135615	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:55135615C>T	ENST00000314706.3	+	1	256	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P86S(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCTGGGTTCCCCCATGTACTT	0.408000													26	38					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862627	5862627	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr11:5862627C>T	ENST00000329322.5	-	1	500	c.501G>A	c.(499-501)agG>agA	p.R167R	OR52E6_ENST00000379946.2_Silent_p.R171R|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	167					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)		AGAAGGGCAACCTTAAGAGGA	0.488000													36	50					0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3137081	3137081	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:3137081G>A	ENST00000446632.2	-	8	1331	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.R253C|IL5RA_ENST00000456302.1_Missense_Mutation_p.R253C|IL5RA_ENST00000311981.8_Missense_Mutation_p.R253C|IL5RA_ENST00000430514.2_Missense_Mutation_p.R253C|IL5RA_ENST00000383846.1_Missense_Mutation_p.R253C|IL5RA_ENST00000256452.3_Missense_Mutation_p.R253C	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	253					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ATAGAGAGACGAGTTCCTTCA	0.358000													9	21					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060785	9060785	+	Silent	SNP	G	G	A	rs76894959		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:9060785G>A	ENST00000397910.4	-	3	26864	c.26661C>T	c.(26659-26661)ttC>ttT	p.F8887F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8889	Ser-rich.|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						TGACAGGGGTGAAAAGAGAAG	0.493000													29	38					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104943611	104943611	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr8:104943611C>T	ENST00000507740.1	+	9	1977	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S	RIMS2_ENST00000262231.10_Missense_Mutation_p.P628S|RIMS2_ENST00000406091.3_Missense_Mutation_p.P789S|RIMS2_ENST00000436393.2_Missense_Mutation_p.P567S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	851					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)			TTACTTTCTTCCAGACAGAAG	0.338000										HNSCC(12;0.0054)			5	28					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16004691	16004691	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:16004691G>A	ENST00000268712.3	-	20	2820	c.2563C>T	c.(2563-2565)Cct>Tct	p.P855S	NCOR1_ENST00000395848.1_Missense_Mutation_p.P762S|NCOR1_ENST00000395851.1_Missense_Mutation_p.P871S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	855					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATCTCTAGGTTCCACCTTC	0.483000													28	46					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45394164	45394164	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:45394164T>C	ENST00000389039.6	-	21	3063	c.2678A>G	c.(2677-2679)aAc>aGc	p.N893S	DUOX2_ENST00000603300.1_Missense_Mutation_p.N893S			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	893					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGACAGGCAGTTGTTGGAGAT	0.597000													6	4					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262103	39262103	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:39262103A>T	ENST00000391415.1	+	1	520	c.463A>T	c.(463-465)Agc>Tgc	p.S155C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	155	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccccagctgcagcatctccag	0.672000													3	20					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209935905	209935905	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:209935905C>T	ENST00000367024.1	+	4	907	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P111S|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.P111S|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P131S|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P111S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	131						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GCATCCTCCTCCCTCAGGCAT	0.582000													25	15					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	237029028	237029028	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr2:237029028C>T	ENST00000409538.1	+	16	3439	c.2943C>T	c.(2941-2943)ggC>ggT	p.G981G	AGAP1_ENST00000428334.2_Silent_p.G608G|AGAP1_ENST00000304032.7_Silent_p.G769G|AGAP1_ENST00000336665.5_Silent_p.G716G			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	769					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGGGAGACGGCCGCACGGCGC	0.716000													34	38					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167891788	167891788	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr5:167891788C>T	ENST00000265293.4	+	21	3473	c.2971C>T	c.(2971-2973)Ctg>Ttg	p.L991L	WWC1_ENST00000521089.1_Silent_p.L997L|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	991	Interaction with PRKCZ.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCGCTGGACCTGGAGTTAGA	0.592000													16	29					0	0	1	0	0
GNB2	2783	broad.mit.edu	37	7	100275731	100275731	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:100275731G>A	ENST00000303210.4	+	8	990	c.508G>A	c.(508-510)Gac>Aac	p.D170N	GNB2_ENST00000424361.1_Missense_Mutation_p.D126N|GNB2_ENST00000427895.1_Missense_Mutation_p.D70N|GNB2_ENST00000393926.1_Missense_Mutation_p.D170N|GNB2_ENST00000436220.1_Missense_Mutation_p.D126N|GNB2_ENST00000419828.1_Missense_Mutation_p.D70N|GNB2_ENST00000393924.1_Missense_Mutation_p.D170N	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	170					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TGCCCTGTGGGACATTGAGAC	0.597000													24	35					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124413298	124413298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr3:124413298C>T	ENST00000360013.3	+	53	7652	c.7525C>T	c.(7525-7527)Cag>Tag	p.Q2509*	KALRN_ENST00000291478.4_Nonsense_Mutation_p.Q812*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.Q780*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2508	Ig-like C2-type.				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						GGGTCCAGACCAGAACATCCT	0.547000													27	8					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099914	50099914	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:50099914C>T	ENST00000418929.2	+	4	2334	c.2322C>T	c.(2320-2322)acC>acT	p.T774T		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	476							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCAGTCTACCCAGCCCACTC	0.711000													9	15					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585753	82585753	+	Silent	SNP	T	T	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr7:82585753T>G	ENST00000423517.2	-	5	4853	c.4516A>C	c.(4516-4518)Aga>Cga	p.R1506R	PCLO_ENST00000333891.8_Silent_p.R1506R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1437					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTCTCTTCTAGTAGTTATG	0.378000													7	16					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27240003	27240003	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr17:27240003G>A	ENST00000577226.1	-	9	1932	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Missense_Mutation_p.S529F|PHF12_ENST00000268756.3_Missense_Mutation_p.S529F			Q96QT6	PHF12_HUMAN	PHD finger protein 12	529	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GGTTTTCTTGGATTTTTCCGC	0.572000													24	37					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43128564	43128564	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr6:43128564C>T	ENST00000230419.4	+	20	3379	c.3158C>T	c.(3157-3159)tCc>tTc	p.S1053F	PTK7_ENST00000349241.2_Missense_Mutation_p.S923F|PTK7_ENST00000352931.2_Missense_Mutation_p.S997F|PTK7_ENST00000481273.1_Missense_Mutation_p.S1061F|PTK7_ENST00000345201.2_Missense_Mutation_p.S1013F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	1053	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GACCGGCCCTCCTTCAGTGAG	0.657000													22	50					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127566402	127566402	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr9:127566402G>A	ENST00000373580.3	+	6	949	c.949G>A	c.(949-951)Gag>Aag	p.E317K	OLFML2A_ENST00000288815.5_Missense_Mutation_p.E103K	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	317										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TTCCTGGCTGGAGCAACTGCC	0.632000													13	19					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380982	147380982	+	Silent	SNP	C	C	T			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr1:147380982C>T	ENST00000240986.4	+	2	953	c.900C>T	c.(898-900)ttC>ttT	p.F300F	GJA8_ENST00000369235.1_Silent_p.F300F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	300					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCAATCAGTTCGAGGAGAAGA	0.572000													26	11					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81929430	81929430	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr16:81929430C>A	ENST00000359376.3	+	13	1305	c.1091C>A	c.(1090-1092)cCc>cAc	p.P364H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	364	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGGACGGGCCCGATGGGAAG	0.602000													29	28					1.80694e-10	1.83527e-10	1	1	0
ITGA11	22801	broad.mit.edu	37	15	68642965	68642965	+	Silent	SNP	G	G	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr15:68642965G>A	ENST00000423218.2	-	9	1145	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	ITGA11_ENST00000315757.7_Silent_p.F350F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	350					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CTTCCAGGCTGAAGATTCTGT	0.498000													10	42					0	0	1	0	0
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													6	7	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs57759840		TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102																											ctctctctctctctctctTTTTTTTTT	0.415													3	3	---	---	---	---					
NOVA1	4857	broad.mit.edu	37	14	26917534	26917535	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr14:26917534_26917535insA	ENST00000539517.2	-	5	1471_1472	c.1154_1155insT	c.(1153-1155)tggfs	p.W385fs	NOVA1_ENST00000465357.2_Frame_Shift_Ins_p.W361fs|NOVA1_ENST00000267422.7_Frame_Shift_Ins_p.W263fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	388	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CCAGGCTACCTAATGCAAATGT	0.550													10	8	---	---	---	---					
FZR1	51343	broad.mit.edu	37	19	3532524	3532525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FS-A4FD-06A-11D-A25O-08	TCGA-FS-A4FD-10B-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3C8DA9BE-426B-477C-96D7-9DAF7F30F2D2	3D287BB1-93B3-4C78-B935-F994D563B4BF	g.chr19:3532524_3532525insG	ENST00000441788.2	+	11	1354_1355	c.1118_1119insG	c.(1117-1119)tggfs	p.W373fs	FZR1_ENST00000395095.3_Frame_Shift_Ins_p.W373fs|FZR1_ENST00000313639.8_Frame_Shift_Ins_p.W284fs	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	373					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGGCCTCGGGGGGCGGCA	0.644													13	22	---	---	---	---					
