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
SALL1	6299	broad.mit.edu	37	16	51173730	51173730	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:51173730G>T	ENST00000440970.1	-	2	2543	c.2112C>A	c.(2110-2112)agC>agA	p.S704R	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S801R|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	801					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S801R(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACTCAGAGTAGCTGTCGGGGA	0.512000													88	99					2.98122e-55	5.3747e-55	1	1	0
PIK3R3	8503	broad.mit.edu	37	1	46521524	46521524	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:46521524A>G	ENST00000262741.5	-	7	1573	c.884T>C	c.(883-885)aTg>aCg	p.M295T	PIK3R3_ENST00000420542.1_Missense_Mutation_p.M295T|PIK3R3_ENST00000372006.1_Missense_Mutation_p.M295T|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M341T|PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000488808.1_5'UTR	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	295					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	p.M295T(2)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GATGCTATTCATTTTTTTATC	0.428000													29	210					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44067349	44067349	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:44067349G>T	ENST00000344290.5	+	8	1610	c.1288G>T	c.(1288-1290)Gct>Tct	p.A430S	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.A430S|MAPT_ENST00000571987.1_Missense_Mutation_p.A430S|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A430S|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	430					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	p.A430S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTCCAGCCCTGCTGTGTGCCC	0.522000													52	160					8.44121e-28	1.2612e-27	1	1	0
MFSD4	148808	broad.mit.edu	37	1	205538353	205538353	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:205538353G>C	ENST00000367147.4	+	1	249	c.156G>C	c.(154-156)caG>caC	p.Q52H	MFSD4_ENST00000539267.1_Missense_Mutation_p.Q52H|MFSD4_ENST00000536357.1_Missense_Mutation_p.Q52H	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	52					transmembrane transport	integral to membrane		p.Q52H(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CGCTGCCCCAGATCTCCTGGG	0.672000													2	1					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67190582	67190582	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:67190582C>A	ENST00000269081.4	-	13	2198	c.1289G>T	c.(1288-1290)gGa>gTa	p.G430V	ABCA10_ENST00000416101.2_Missense_Mutation_p.G430V	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	430	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.G430V(2)		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)					TTTACCAGCTCCATTATGCCC	0.333000													23	135					1.62565e-12	1.98371e-12	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75899098	75899098	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:75899098C>A	ENST00000322507.8	-	7	968		c.e7-1		COL12A1_ENST00000483888.2_Splice_Site|COL12A1_ENST00000416123.2_Splice_Site|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.?(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGGCATCCCCTAAAGGGAAA	0.328000													11	54					0.000151284	0.000161953	1	1	0
SPATA2L	124044	broad.mit.edu	37	16	89764352	89764352	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:89764352C>A	ENST00000289805.5	-	3	733	c.665G>T	c.(664-666)aGg>aTg	p.R222M	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	222										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGTGGGGCCCTGTAAGCAGC	0.711000													2	1					0.0016	0.00168199	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38758175	38758175	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:38758175A>G	ENST00000359357.3	+	18	2378	c.2124A>G	c.(2122-2124)ttA>ttG	p.L708L	DNAH8_ENST00000441566.1_Silent_p.L708L|DNAH8_ENST00000449981.2_Silent_p.L925L					dynein, axonemal, heavy chain 8									p.L708L(4)		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						ATCAACTTTTAAAGAAGGTAT	0.313000													54	58					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81388081	81388081	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:81388081C>A	ENST00000222390.5	-	3	520	c.294G>T	c.(292-294)tgG>tgT	p.W98C	HGF_ENST00000453018.1_5'UTR|HGF_ENST00000453411.1_Missense_Mutation_p.W98C|HGF_ENST00000457544.2_Missense_Mutation_p.W98C|HGF_ENST00000354224.6_Missense_Mutation_p.W98C|HGF_ENST00000423064.2_Missense_Mutation_p.W98C|HGF_ENST00000444829.2_Missense_Mutation_p.W98C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	98	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.W98C(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGAAGGGGAACCAGAGGCATT	0.323000													32	110					3.76114e-14	4.74203e-14	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55433526	55433526	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55433526C>A	ENST00000314259.3	+	1	913	c.884C>A	c.(883-885)gCc>gAc	p.A295D		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A295D(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTGAAAAGTGCCATGAAGAAA	0.433000													97	234					2.19568e-55	3.9679e-55	1	1	0
BCL11A	53335	broad.mit.edu	37	2	60773198	60773198	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:60773198G>T	ENST00000335712.6	-	2	520	c.293C>A	c.(292-294)cCc>cAc	p.P98H	BCL11A_ENST00000358510.4_Missense_Mutation_p.P98H|BCL11A_ENST00000359629.5_Missense_Mutation_p.P98H|BCL11A_ENST00000356842.4_Missense_Mutation_p.P98H|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.P98H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	98	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.P98H(6)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AACCTCCACGGGATTGGATGC	0.473000			T	IGH@	B-CLL								27	60					9.80776e-20	1.33886e-19	1	1	0
IGHV4-61	28391	broad.mit.edu	37	14	107095455	107095455	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:107095455G>T	ENST00000390630.2	-	0	147																											GAGACCCACAGTGAGCCCTGG	0.622000													20	39					1.87028e-06	2.06931e-06	1	1	0
PSMD11	5717	broad.mit.edu	37	17	30800864	30800864	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:30800864C>T	ENST00000261712.3	+	7	952	c.689C>T	c.(688-690)tCa>tTa	p.S230L	PSMD11_ENST00000457654.2_Missense_Mutation_p.S230L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	230	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	p.S230L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			ACTGCGTACTCATACTTCTAT	0.413000													41	118					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934426	4934426	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:4934426C>T	ENST00000345988.2	-	22	4319	c.4230G>A	c.(4228-4230)cgG>cgA	p.R1410R	PPL_ENST00000590782.2_Silent_p.R1408R	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1410					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.R1410R(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCGGGCCTGCCGCTCGCGCT	0.692000													2	3					0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25669751	25669751	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:25669751T>A	ENST00000377961.2	+	5	517	c.349T>A	c.(349-351)Tat>Aat	p.Y117N	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	117	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding	p.Y117N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTGGCGCAAATATGACGCTGA	0.398000													61	100					0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87017643	87017643	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:87017643G>C	ENST00000409511.2	-	5	1241	c.211C>G	c.(211-213)Cta>Gta	p.L71V	CD8A_ENST00000456996.2_Missense_Mutation_p.L71V|CD8A_ENST00000352580.3_Missense_Mutation_p.L71V|CD8A_ENST00000409781.1_Missense_Mutation_p.L71V|CD8A_ENST00000283635.3_Missense_Mutation_p.L71V|CD8A_ENST00000538832.1_Missense_Mutation_p.L112V	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	71	Ig-like V-type.				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	p.L71V(2)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GAGAGGTATAGGAGGAAGGTG	0.667000													11	23					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81978919	81978919	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:81978919C>A	ENST00000356860.3	-	2	480	c.142G>T	c.(142-144)Gca>Tca	p.A48S	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A48S|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A48S	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	48						voltage-gated calcium channel complex	metal ion binding	p.A48S(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCTGTTTTTGCCAGTGTGACA	0.358000													95	274					1.37143e-49	2.42074e-49	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37744666	37744666	+	Silent	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:37744666A>C	ENST00000539465.1	+	16	3230	c.2637A>C	c.(2635-2637)gcA>gcC	p.A879A	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.A879A			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	879						cytoskeleton|cytosol|plasma membrane		p.A879A(1)		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)		CCCTTGGTGCACCCTCCCCAA	0.607000													6	46					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95412526	95412526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:95412526C>T	ENST00000336148.5	-	7	1234	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*		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	p.W370*(2)		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)			ATTCTTTCTTCCAATTATTCA	0.378000								Direct reversal of damage;Homologous recombination					154	285					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88658607	88658607	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:88658607C>A	ENST00000340700.5	-	5	1265	c.814G>T	c.(814-816)Gtc>Ttc	p.V272F	KCNK10_ENST00000319231.5_Missense_Mutation_p.V277F|KCNK10_ENST00000312350.5_Missense_Mutation_p.V277F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	272					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.V277F(4)|p.V272F(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GTCAGAGTGACCACCACAAAG	0.542000													21	69					4.4004e-07	4.89722e-07	1	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72027129	72027129	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:72027129T>C	ENST00000378743.3	-	13	2958	c.2600A>G	c.(2599-2601)aAg>aGg	p.K867R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	867					RNA processing	intracellular	metal ion binding	p.K867R(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTAATCTTTGCTTCAGC	0.289000													18	17					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459809	141459809	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:141459809T>C	ENST00000389484.3	-	39	7174	c.6203A>G	c.(6202-6204)gAc>gGc	p.D2068G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2068					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2068G(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCTCAAGGTCGATTCTCTC	0.413000										TSP Lung(27;0.18)			132	306					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118969862	118969862	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:118969862G>A	ENST00000328252.3	+	3	1975	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	536	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.E536K(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATGGGACAAGGAGGCCCTGAT	0.433000													119	216					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966145	2966145	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:2966145C>A	ENST00000575751.1	-	1	756	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(4)		kidney(1)|lung(10)	11						GCAAGCGTCCCATAAAAGAGG	0.498000													46	201					1.05386e-31	1.63909e-31	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113102898	113102898	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:113102898C>A	ENST00000316851.7	+	10	1217	c.1217C>A	c.(1216-1218)cCa>cAa	p.P406Q	NCAM1_ENST00000401611.2_Missense_Mutation_p.P415Q|NCAM1_ENST00000533760.1_Missense_Mutation_p.P288Q|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	416	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.P415Q(4)|p.P406Q(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCAGATGCCCCAAAGCTACAG	0.522000													15	62					4.7546e-09	5.40231e-09	1	1	0
KCNH3	23416	broad.mit.edu	37	12	49949578	49949578	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:49949578G>A	ENST00000257981.6	+	12	2572	c.2312G>A	c.(2311-2313)cGt>cAt	p.R771H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	771					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.R771H(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTATCCCCACGTCGAACAGCA	0.697000													8	6					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235237	137235237	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:137235237C>T	ENST00000508638.1	+	5	612	c.557C>T	c.(556-558)cCt>cTt	p.P186L	PKD2L2_ENST00000508883.1_Missense_Mutation_p.P186L|PKD2L2_ENST00000290431.5_Missense_Mutation_p.P186L|PKD2L2_ENST00000502810.1_Missense_Mutation_p.P186L|PKD2L2_ENST00000350250.4_Missense_Mutation_p.P152L	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	186						integral to membrane	calcium ion binding|ion channel activity	p.P186L(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCAACTCCCCTTGGCACTGG	0.353000													21	36					0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27093631	27093631	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:27093631T>A	ENST00000341217.5	-	2	270	c.55A>T	c.(55-57)Acg>Tcg	p.T19S	FAM222B_ENST00000581381.1_Missense_Mutation_p.T19S|FAM222B_ENST00000452648.3_Missense_Mutation_p.T19S|FAM222B_ENST00000583953.1_Missense_Mutation_p.T19S|FAM222B_ENST00000583522.1_Missense_Mutation_p.T19S|FAM222B_ENST00000582266.1_Missense_Mutation_p.T19S|FAM222B_ENST00000582059.1_Missense_Mutation_p.T19S|FAM222B_ENST00000581407.1_Missense_Mutation_p.T19S|FAM222B_ENST00000577682.1_Missense_Mutation_p.T19S	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	19								p.T19S(4)|p.T19A(1)									TTCATCTGCGTGTGAGAAAGA	0.478000													31	74					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22902056	22902056	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:22902056C>A	ENST00000361524.3	-	3	284	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L	ZNF521_ENST00000538137.2_Missense_Mutation_p.V46L|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	46					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.V46L(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGCTGTGCACAGCTTCGTCT	0.463000			T	PAX5	ALL								120	222					3.1838e-27	4.71974e-27	1	1	0
FERD3L	222894	broad.mit.edu	37	7	19184711	19184711	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:19184711G>T	ENST00000275461.3	-	1	333	c.275C>A	c.(274-276)cCc>cAc	p.P92H	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P92H(3)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTTCCTCTTGGGGCGGCCTAA	0.617000													24	47					4.87955e-14	6.14193e-14	1	1	0
FLG	2312	broad.mit.edu	37	1	152277375	152277375	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:152277375G>C	ENST00000368799.1	-	3	10022	c.9987C>G	c.(9985-9987)gaC>gaG	p.D3329E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3329	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D3329E(2)		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)			AGTGTCTACTGTCTCTGACTG	0.572000									Ichthyosis				464	1370					0	0	1	0	0
CTRB2	440387	broad.mit.edu	37	16	75238132	75238132	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:75238132G>T	ENST00000303037.8	-	7	762	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	240	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	p.T240N(2)		endometrium(1)|large_intestine(1)|lung(2)	4						GGGCGTGGTGGTAGAGCAGGT	0.667000													20	55					2.44723e-14	3.09575e-14	1	1	0
RYR1	6261	broad.mit.edu	37	19	38976573	38976573	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:38976573C>A	ENST00000355481.4	+	34	5409	c.5278C>A	c.(5278-5280)Cat>Aat	p.H1760N	RYR1_ENST00000360985.3_Missense_Mutation_p.H1760N|RYR1_ENST00000359596.3_Missense_Mutation_p.H1760N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1760	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.H1760N(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACCCCCGGCATGGCCTGCC	0.642000													9	17					6.42651e-13	7.91838e-13	1	1	0
ZMAT1	84460	broad.mit.edu	37	X	101153123	101153123	+	Translation_Start_Site	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:101153123T>A	ENST00000458570.1	-	0	492				ZMAT1_ENST00000372782.3_Missense_Mutation_p.K100M|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K100M			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1							nucleus	zinc ion binding	p.K100M(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTTCATTTTCTTACCAGGCAC	0.318000													109	164					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101095256	101095256	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:101095256C>A	ENST00000369162.2	-	21	3668	c.3324G>T	c.(3322-3324)agG>agT	p.R1108S		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1108	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R1108S(2)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GATTCAGGAGCCTGTAGGTCA	0.428000													54	59					2.32582e-20	3.20963e-20	1	1	0
LOC647264	647264	broad.mit.edu	37	13	64321150	64321150	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:64321150G>T	ENST00000453638.2	+	1	217	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C															p.G73C(2)		endometrium(2)|lung(1)|urinary_tract(1)	4						ctgtggctatggctctggcta	0.567000													16	23					3.6726e-16	4.78953e-16	1	1	0
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:31237922G>C	ENST00000251758.5	+	5	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_ENST00000228264.6_Missense_Mutation_p.R141T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000407793.2_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	p.R167T(11)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612000										Multiple Myeloma(12;0.14)			2	2					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24817548	24817548	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:24817548A>G	ENST00000395799.3	+	16	4402	c.4273A>G	c.(4273-4275)Agg>Ggg	p.R1425G	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1376G	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1425					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.R1425G(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCAGCAGCAAAGGGCGCAGAG	0.512000													64	188					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41422935	41422935	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:41422935C>G	ENST00000551295.2	+	23	3011	c.2894C>G	c.(2893-2895)cCa>cGa	p.P965R	CNTN1_ENST00000347616.1_Missense_Mutation_p.P965R|CNTN1_ENST00000348761.2_Missense_Mutation_p.P954R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	965	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.P965R(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATAGAAGTCCCAATCCCCAGA	0.448000													307	390					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2808659	2808659	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:2808659G>T	ENST00000602557.1	-	67	10736	c.10181C>A	c.(10180-10182)tCg>tAg	p.S3394*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S3216*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S3393*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S3217*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.S3394*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S3217*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3394						integral to membrane		p.S3122*(2)|p.S3393*(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCACTGGCGAGGCTTCGCT	0.458000													47	97					2.69953e-25	3.93272e-25	1	1	0
OR2K2	26248	broad.mit.edu	37	9	114090287	114090287	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:114090287G>T	ENST00000374428.1	-	1	513	c.514C>A	c.(514-516)Cgg>Agg	p.R172R	OR2K2_ENST00000302681.1_Silent_p.R143R			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172R(2)|p.R143R(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTAGCCATCCGTGCACAGACG	0.547000													323	287					7.06172e-221	1.43311e-220	1	1	0
ARHGAP5	394	broad.mit.edu	37	14	32560198	32560198	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:32560198G>C	ENST00000345122.3	+	2	638	c.323G>C	c.(322-324)cGg>cCg	p.R108P	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R108P|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R108P|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R108P|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	108					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.R108S(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGCCTCATCGGAGTACGAAT	0.378000													45	145					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47759675	47759675	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:47759675G>T	ENST00000489301.2	+	3	473	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	OPN5_ENST00000371211.2_Missense_Mutation_p.D130Y|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.D130Y			Q6U736	OPN5_HUMAN	opsin 5	130					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.D130Y(2)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTCAGCCTGGATCGATATTT	0.463000													52	159					1.95512e-22	2.75825e-22	1	1	0
AHDC1	27245	broad.mit.edu	37	1	27876408	27876408	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:27876408C>G	ENST00000374011.2	-	6	3187	c.2219G>C	c.(2218-2220)cGc>cCc	p.R740P	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.R740P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	740	Gly-rich.						DNA binding	p.R740P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCGTCTCTTGCGCTTTGGCTT	0.677000													4	15					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489566	124489566	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:124489566A>G	ENST00000284288.2	+	4	981	c.914A>G	c.(913-915)tAt>tGt	p.Y305C		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	305					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.Y305C(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTATCTGTCTATGAGATGCTC	0.443000													34	82					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172163026	172163026	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:172163026G>T	ENST00000241256.2	-	2	1068	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	342					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.P342P(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCTGGGAGAAGGGTTCGAATC	0.478000													29	82					9.78306e-22	1.36999e-21	1	1	0
SEC23A	10484	broad.mit.edu	37	14	39556195	39556195	+	Silent	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:39556195A>C	ENST00000537403.1	-	2	1217	c.15T>G	c.(13-15)tcT>tcG	p.S5S	SEC23A_ENST00000545328.2_Silent_p.S178S|SEC23A_ENST00000536508.1_Silent_p.S81S|SEC23A_ENST00000307712.6_Silent_p.S207S			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	207					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	p.S207S(2)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTGGTACTTTAGAGAGCCCCA	0.363000													26	68					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12044543	12044543	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:12044543C>T	ENST00000415385.3	+	12	1252	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L	MAP2K4_ENST00000353533.5_Missense_Mutation_p.P389L			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	389					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(2)|p.P389L(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATCAAATGCCAGCTACTCCC	0.408000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								128	253					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118896117	118896117	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:118896117G>A	ENST00000277905.2	-	2	539	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	VAX1_ENST00000369206.5_Missense_Mutation_p.R99W	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	99						nucleus	sequence-specific DNA binding	p.R99W(4)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CTCTTAGGCCGGTCCAAGTCC	0.657000													6	33					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356498	149356498	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:149356498C>A	ENST00000355292.3	-	2	1877	c.1515G>T	c.(1513-1515)gaG>gaT	p.E505D	NR3C2_ENST00000344721.4_Missense_Mutation_p.E505D|NR3C2_ENST00000342437.4_Missense_Mutation_p.E505D|NR3C2_ENST00000511528.1_Missense_Mutation_p.E505D|NR3C2_ENST00000358102.3_Missense_Mutation_p.E505D|NR3C2_ENST00000512865.1_Missense_Mutation_p.E505D			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	505	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.E505D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGATGCTGGCCTCTGGGTAAT	0.493000													36	107					2.24893e-16	2.943e-16	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72968044	72968044	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:72968044C>G	ENST00000262209.4	-	11	1448	c.1241G>C	c.(1240-1242)tGt>tCt	p.C414S	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	414						integral to plasma membrane		p.C414S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TAGAGGAGTACACCCATCGTT	0.363000													26	119					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380866	78380866	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:78380866C>A	ENST00000278550.7	-	32	6986	c.6524G>T	c.(6523-6525)cGa>cTa	p.R2175L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.R2175L(4)|p.R2175Q(1)									CTTCACTACTCGCCCCATGTT	0.498000													40	59					1.38162e-09	1.58646e-09	1	1	0
ZBBX	79740	broad.mit.edu	37	3	167031857	167031857	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:167031857C>A	ENST00000392766.2	-	16	1662	c.1322G>T	c.(1321-1323)gGc>gTc	p.G441V	ZBBX_ENST00000307529.5_Missense_Mutation_p.G441V|ZBBX_ENST00000392764.1_Missense_Mutation_p.G412V|ZBBX_ENST00000455345.2_Missense_Mutation_p.G441V|ZBBX_ENST00000392767.2_Missense_Mutation_p.G441V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	441						intracellular	zinc ion binding	p.G441V(4)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGATGGATGCCATTTTCATA	0.299000													56	155					2.17656e-39	3.59132e-39	1	1	0
LDLRAD4	753	broad.mit.edu	37	18	13645329	13645329	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:13645329G>T	ENST00000361205.4	+	7	1262	c.594G>T	c.(592-594)atG>atT	p.M198I	LDLRAD4_ENST00000592991.1_Missense_Mutation_p.M100I|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.M143I|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.M198I|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.M161I|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.M180I|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.M121I	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4									p.M161I(2)|p.M198I(2)									AACAGCAGATGGAACTCAACC	0.567000													15	45					2.48551e-13	3.08251e-13	1	1	0
SYT12	91683	broad.mit.edu	37	11	66812117	66812117	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:66812117C>A	ENST00000393946.2	+	9	2053	c.891C>A	c.(889-891)gcC>gcA	p.A297A	SYT12_ENST00000527043.1_Silent_p.A297A|SYT12_ENST00000525457.1_Silent_p.A297A			Q8IV01	SYT12_HUMAN	synaptotagmin XII	297	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane		p.A297A(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TCCCCACAGCCGAGCGCCTCA	0.662000													14	24					1.15088e-07	1.29027e-07	1	1	0
KRTAP19-6	337973	broad.mit.edu	37	21	31914063	31914063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:31914063G>T	ENST00000334046.5	-	1	120	c.90C>A	c.(88-90)taC>taA	p.Y30*		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	30						intermediate filament		p.Y30*(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						AGCCATATCTGTAGCCTCCAC	0.512000													122	277					1.34705e-89	2.62157e-89	1	1	0
MAP2K1	5604	broad.mit.edu	37	15	66729153	66729153	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:66729153T>A	ENST00000307102.5	+	3	892	c.361T>A	c.(361-363)Tgc>Agc	p.C121S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	121	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C121S(4)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TCTGCATGAGTGCAACTCTCC	0.502000													60	132					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395930	47395930	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:47395930G>T	ENST00000310638.4	-	12	1448	c.1417C>A	c.(1417-1419)Ctg>Atg	p.L473M	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L474M	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	473					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.L473M(2)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGCAGGGTCAGGGCCGTGGCC	0.542000													179	445					2.05324e-106	4.0269e-106	1	1	0
HHIPL2	79802	broad.mit.edu	37	1	222713410	222713410	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:222713410C>A	ENST00000343410.6	-	4	1450	c.1392G>T	c.(1390-1392)tgG>tgT	p.W464C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	464					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.W464C(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCTTTGCTCTCCAGCCATAGT	0.488000													98	238					1.81242e-41	3.06376e-41	1	1	0
SLC27A6	28965	broad.mit.edu	37	5	128324424	128324424	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:128324424C>A	ENST00000262462.4	+	3	1827	c.817C>A	c.(817-819)Ctg>Atg	p.L273M	SLC27A6_ENST00000506176.1_Missense_Mutation_p.L273M|SLC27A6_ENST00000395266.1_Missense_Mutation_p.L273M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	273					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.L273M(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCAGCTATCCTGGGAATTTC	0.358000													96	170					1.90054e-66	3.52692e-66	1	1	0
ACTN3	89	broad.mit.edu	37	11	66322052	66322052	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:66322052C>A	ENST00000502692.1	+	0	760				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	p.T171K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CAGAGGAAGACAGCACCGTAC	0.582000													12	24					1.05317e-09	1.22039e-09	1	1	0
GIMAP8	155038	broad.mit.edu	37	7	150174417	150174417	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:150174417G>T	ENST00000307271.3	+	5	2121	c.1547G>T	c.(1546-1548)cGc>cTc	p.R516L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	516						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R516L(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAGGTCAAGCGCTGTTTGTCC	0.522000													52	127					9.22156e-22	1.29375e-21	1	1	0
TEX13A	56157	broad.mit.edu	37	X	104465059	104465059	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:104465059G>C	ENST00000372578.3	-	2	134	c.23C>G	c.(22-24)cCc>cGc	p.P8R	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.P8R|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.P8R	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	8						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCGCTACTGGGGTCCTCAGG	0.537000													42	17					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613223	3613223	+	RNA	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:3613223T>A	ENST00000301749.7	-	0	2120				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	p.H619L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCAGCTCATGCAGGCAGTG	0.716000													3	5					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248432	3248432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:3248432G>T	ENST00000217939.6	-	4	490	c.336C>A	c.(334-336)taC>taA	p.Y112*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	112						extracellular region		p.Y112*(4)		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)				TCAGCTTGTTGTAGCTGAACT	0.428000													4	16					0.00909568	0.00926661	1	1	0
MAPK4	5596	broad.mit.edu	37	18	48248367	48248367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:48248367G>T	ENST00000400384.2	+	4	1787	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	MAPK4_ENST00000540640.1_Nonsense_Mutation_p.E40*|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	251	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.E251*(2)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AATCCGGGAGGAAGACAAGGA	0.577000													9	12					0.00621372	0.00639053	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99520213	99520213	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:99520213T>C	ENST00000376460.1	-	29	3223	c.3143A>G	c.(3142-3144)tAc>tGc	p.Y1048C	DOCK9_ENST00000442173.1_Missense_Mutation_p.Y1048C|DOCK9_ENST00000448493.2_Missense_Mutation_p.Y1060C|DOCK9_ENST00000339416.2_Missense_Mutation_p.Y1049C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1049					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.Y1049C(2)|p.Y1060C(2)|p.Y1048C(2)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACAGCTAATGTAGTTGTTGAT	0.428000													60	114					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136164	55136164	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55136164G>T	ENST00000314706.3	+	1	805	c.805G>T	c.(805-807)Gca>Tca	p.A269S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A269S(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTACACCTGTGCATCCCACGT	0.423000													145	410					3.62976e-74	6.87028e-74	1	1	0
CYLD	1540	broad.mit.edu	37	16	50788335	50788335	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:50788335G>T	ENST00000540145.1	+	6	1328	c.913_splice	c.e6+1	p.A305_splice	CYLD_ENST00000427738.3_Splice_Site_p.A305_splice|CYLD_ENST00000398568.2_Splice_Site_p.E305_splice|CYLD_ENST00000311559.9_Splice_Site_p.A305_splice|CYLD_ENST00000568704.2_Splice_Site_p.E305_splice|CYLD_ENST00000566206.1_Splice_Site_p.E305_splice|CYLD_ENST00000564326.1_Splice_Site_p.E305_splice|CYLD_ENST00000569418.1_Splice_Site_p.E305_splice			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	305	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.A305S(2)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TATCATCCCAGGTATGTTTTC	0.328000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				36	36					1.23537e-32	1.9413e-32	1	1	0
FARP2	9855	broad.mit.edu	37	2	242402803	242402803	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:242402803G>T	ENST00000264042.3	+	16	1901	c.1731G>T	c.(1729-1731)acG>acT	p.T577T	FARP2_ENST00000545004.1_Silent_p.T577T|FARP2_ENST00000373287.4_Silent_p.T577T	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	577	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.T577T(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CTCTGATGACGCTGCTCTTCT	0.597000													17	45					8.60227e-14	1.07919e-13	1	1	0
SLC9C1	285335	broad.mit.edu	37	3	111870801	111870801	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:111870801G>T	ENST00000305815.5	-	28	3679	c.3427C>A	c.(3427-3429)Cac>Aac	p.H1143N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.H1095N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1143					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.H1143N(2)									GCGGCACTGTGTGCTCCATCC	0.522000													49	161					1.19451e-25	1.74689e-25	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20269349	20269349	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:20269349A>G	ENST00000245957.5	+	23	2969	c.2893A>G	c.(2893-2895)Acc>Gcc	p.T965A	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	965								p.T965A(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGTGATTGATACCAACTTCCA	0.433000													195	497					0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114611088	114611088	+	Missense_Mutation	SNP	C	C	A	rs141845700		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:114611088C>A	ENST00000379611.5	-	6	1030	c.743G>T	c.(742-744)gGt>gTt	p.G248V	CCDC112_ENST00000395557.4_Missense_Mutation_p.G165V|CCDC112_ENST00000506442.1_Missense_Mutation_p.G165V|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000512261.1_Missense_Mutation_p.G165V	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	165								p.G248V(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ATCCCAGGCACCTTGTCGCCC	0.408000													35	67					1.69901e-12	2.0699e-12	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125281944	125281944	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:125281944G>T	ENST00000431078.1	+	9	1753	c.1389G>T	c.(1387-1389)acG>acT	p.T463T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	463	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T463T(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCGCATCACGCTCACTCTGG	0.493000													123	204					5.9345e-76	1.13458e-75	1	1	0
FAT3	120114	broad.mit.edu	37	11	92620173	92620173	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:92620173G>A	ENST00000298047.6	+	24	12962	c.12945G>A	c.(12943-12945)ggG>ggA	p.G4315G	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Silent_p.G4165G|FAT3_ENST00000409404.2_Silent_p.G4315G|FAT3_ENST00000533797.1_Silent_p.G650G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4315					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.G4315G(4)|p.G890G(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGACAAAGGGGTTGATGACC	0.493000										TCGA Ovarian(4;0.039)			5	21					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77245130	77245130	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:77245130G>T	ENST00000341514.6	+	4	1167	c.1012G>T	c.(1012-1014)Gta>Tta	p.V338L	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.V338L	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	338	HMA 3.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.V338L(4)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AATAGAGGCTGTATCACCGGG	0.418000													110	80					1.21829e-65	2.24984e-65	1	1	0
KCNC4	3749	broad.mit.edu	37	1	110754218	110754218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:110754218G>T	ENST00000369787.3	+	1	124	c.97G>T	c.(97-99)Gag>Tag	p.E33*	KCNC4_ENST00000438661.2_Nonsense_Mutation_p.E33*|KCNC4_ENST00000413138.3_Nonsense_Mutation_p.E33*	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	33					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E33*(4)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCAAGGGCGAGGCGTCGGA	0.627000													3	22					0.150653	0.151251	1	1	0
WDR49	151790	broad.mit.edu	37	3	167322244	167322244	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:167322244G>T	ENST00000453925.2	-	2	141	c.107C>A	c.(106-108)gCa>gAa	p.A36E	WDR49_ENST00000479765.1_Missense_Mutation_p.A324E|WDR49_ENST00000308378.3_5'UTR			Q8IV35	WDR49_HUMAN	WD repeat domain 49	158										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTCTAAAGATGCATTGTAAGT	0.313000													9	44					3.86212e-05	4.16977e-05	1	1	0
SLFN13	146857	broad.mit.edu	37	17	33768287	33768287	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:33768287C>G	ENST00000285013.6	-	6	2296	c.2021G>C	c.(2020-2022)cGt>cCt	p.R674P	SLFN13_ENST00000542635.1_Missense_Mutation_p.R674P|SLFN13_ENST00000526861.1_Missense_Mutation_p.R674P|SLFN13_ENST00000534689.1_Missense_Mutation_p.R356P|SLFN13_ENST00000533791.1_Missense_Mutation_p.R674P|SLFN13_ENST00000360502.2_Missense_Mutation_p.R356P	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	674						intracellular	ATP binding	p.R674P(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCTTCAGTACGGAAATTCTG	0.433000													50	207					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118982315	118982315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:118982315C>A	ENST00000328252.3	+	5	2387	c.2018C>A	c.(2017-2019)gCg>gAg	p.A673E	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	673					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.A673E(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGGAAACCAGCGCCTGTTGCC	0.572000													175	273					5.09711e-64	9.36733e-64	1	1	0
SLC2A3	6515	broad.mit.edu	37	12	8075422	8075422	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:8075422C>A	ENST00000075120.7	-	9	1507	c.1267G>T	c.(1267-1269)Gct>Tct	p.A423S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	423					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.A423S(2)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CTTACAGCAGCGGAGGGGAAG	0.547000													32	55					5.43694e-19	7.38217e-19	1	1	0
SULF2	55959	broad.mit.edu	37	20	46313275	46313275	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:46313275C>A	ENST00000359930.4	-	6	1639	c.788G>T	c.(787-789)cGc>cTc	p.R263L	SULF2_ENST00000467815.1_Missense_Mutation_p.R263L|SULF2_ENST00000484875.1_Missense_Mutation_p.R263L|SULF2_ENST00000361612.4_Missense_Mutation_p.R263L|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	263					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.R263L(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCCCGTGTAGCGCATGATCCA	0.597000													10	11					1.61879e-10	1.89902e-10	1	1	0
A2M	2	broad.mit.edu	37	12	9225296	9225296	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:9225296C>A	ENST00000318602.7	-	30	4235	c.3928G>T	c.(3928-3930)Ggg>Tgg	p.G1310W		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1310					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.G1310W(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTGTATTCCCCAGGCAGCTCT	0.517000													77	116					1.69331e-39	2.80005e-39	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55432926	55432926	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55432926G>C	ENST00000314259.3	+	1	313	c.284G>C	c.(283-285)tGc>tCc	p.C95S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95S(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAAAGGCTGCCTCACCCAG	0.527000													117	284					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62044883	62044883	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:62044883G>C	ENST00000354587.3	-	13	1775	c.1599C>G	c.(1597-1599)ccC>ccG	p.P533P	KCNQ2_ENST00000360480.3_Silent_p.P533P|KCNQ2_ENST00000359689.1_Silent_p.P561P|KCNQ2_ENST00000430658.1_Silent_p.P530P|KCNQ2_ENST00000370222.3_Silent_p.P533P|KCNQ2_ENST00000359125.2_Silent_p.P561P|KCNQ2_ENST00000370226.1_Silent_p.P531P|KCNQ2_ENST00000357249.2_Silent_p.P543P|KCNQ2_ENST00000344462.3_Silent_p.P521P|KCNQ2_ENST00000370224.1_Silent_p.P533P			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	561					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P561P(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TCACGTCGTAGGGCCGCAGGC	0.652000													9	28					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103553402	103553402	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:103553402C>T	ENST00000226578.4	-	17	2551	c.2452G>A	c.(2452-2454)Gac>Aac	p.D818N	MANBA_ENST00000505239.1_Missense_Mutation_p.D761N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	818					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.D818N(2)|p.D818H(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTCTCCAGGTCAAAAACAAAT	0.418000													34	142					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30955326	30955326	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:30955326C>A	ENST00000295055.8	-	20	2081	c.1905G>T	c.(1903-1905)ctG>ctT	p.L635L	CAPN13_ENST00000534090.2_Silent_p.L635L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	635					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.L635L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CAAGCCGCATCAGGAAGCAGA	0.607000													24	41					1.2476e-16	1.64112e-16	1	1	0
PCBP3	54039	broad.mit.edu	37	21	47360037	47360037	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:47360037G>A	ENST00000400314.1	+	15	1341	c.1003G>A	c.(1003-1005)Ggg>Agg	p.G335R	PCBP3_ENST00000400304.1_Missense_Mutation_p.G325R|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400309.1_Missense_Mutation_p.G334R|PCBP3_ENST00000400310.1_Missense_Mutation_p.G315R|PCBP3_ENST00000400308.1_Missense_Mutation_p.G309R|PCBP3_ENST00000449640.1_Missense_Mutation_p.G335R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	335	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.G303R(2)|p.G335R(2)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CGCCACGGAAGGGTCCTCAGA	0.527000													4	13					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237713847	237713847	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:237713847G>T	ENST00000366574.2	+	27	3387	c.3070G>T	c.(3070-3072)Gta>Tta	p.V1024L	RYR2_ENST00000360064.6_Missense_Mutation_p.V1022L|RYR2_ENST00000542537.1_Missense_Mutation_p.V1008L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1024	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V1022L(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTGCAGGACGTAAAGAACAG	0.463000													15	49					1.96292e-10	2.29209e-10	1	1	0
SDE2	163859	broad.mit.edu	37	1	226176062	226176062	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:226176062T>G	ENST00000272091.7	-	6	687	c.669A>C	c.(667-669)gcA>gcC	p.A223A	SDE2_ENST00000366817.1_Silent_p.A128A	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)									p.A223A(2)|p.A211A(2)									TGGACCCTTCTGCAGTCTCTA	0.473000													57	125					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113304689	113304689	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:113304689G>C	ENST00000263331.5	+	2	858	c.278G>C	c.(277-279)tGc>tCc	p.C93S	POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.C131S|POLR1B_ENST00000417433.2_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.C93S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	93					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.C93S(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGGACCATCTGCAAAGAGGCC	0.458000													42	136					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106960961	106960961	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:106960961A>G	ENST00000369701.3	+	16	2438	c.2211A>G	c.(2209-2211)tcA>tcG	p.S737S	SORCS3_ENST00000369699.4_Silent_p.S23S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	737						integral to membrane	neuropeptide receptor activity	p.S737S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGACCACTCAGGATCAGTGG	0.493000													83	155					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112303791	112303791	+	Translation_Start_Site	SNP	A	A	T	rs17569368	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:112303791A>T	ENST00000475700.1	+	0	656				DDX20_ENST00000369702.4_Intron|DDX20_ENST00000536167.1_Intron			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20						assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGAAATAAAAGGATAGTCAT	0.338000													4	56					0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134040330	134040330	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:134040330C>A	ENST00000368622.1	-	4	643	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	STK32C_ENST00000368625.4_Missense_Mutation_p.D218Y			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	205							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.D205Y(2)|p.D218Y(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CGCAGGTAGTCCAGAGCCAGT	0.642000													4	14					0.00909568	0.00926661	1	1	0
ALB	213	broad.mit.edu	37	4	74283925	74283925	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:74283925G>C	ENST00000295897.4	+	12	1638	c.1549G>C	c.(1549-1551)Gtc>Ctc	p.V517L	ALB_ENST00000503124.1_Missense_Mutation_p.V367L|ALB_ENST00000401494.3_Missense_Mutation_p.V402L|ALB_ENST00000415165.2_Missense_Mutation_p.V325L|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.V517L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	517	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.V517L(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGCTCTGGAAGTCGATGAAAC	0.428000													85	297					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15809791	15809791	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:15809791C>A	ENST00000375910.3	+	5	414	c.389C>A	c.(388-390)cCc>cAc	p.P130H	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	130	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P130H(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CTGGCTAACCCCGTCTCCCTC	0.612000													27	50					3.61848e-18	4.82676e-18	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128956400	128956400	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:128956400G>T	ENST00000274487.4	+	9	1695	c.1550G>T	c.(1549-1551)gGt>gTt	p.G517V	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	517	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G517V(2)		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)		CAGAATCTTGGTGACGTTTCA	0.418000													237	376					3.11003e-157	6.24475e-157	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166198918	166198918	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:166198918G>T	ENST00000357398.3	+	15	2791	c.2501G>T	c.(2500-2502)aGt>aTt	p.S834I	SCN2A_ENST00000375437.2_Missense_Mutation_p.S834I|SCN2A_ENST00000283256.6_Missense_Mutation_p.S834I|SCN2A_ENST00000375427.2_Missense_Mutation_p.S834I			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	834					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S834I(4)		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)	GTGAGCCTTAGTTTAATGGAA	0.358000													67	129					1.24833e-42	2.12918e-42	1	1	0
CRISP1	167	broad.mit.edu	37	6	49806202	49806202	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:49806202C>G	ENST00000335847.4	-	7	671	c.570G>C	c.(568-570)aaG>aaC	p.K190N	CRISP1_ENST00000507853.1_Intron|CRISP1_ENST00000505118.1_Missense_Mutation_p.K190N|CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000536021.1_Intron|CRISP1_ENST00000355791.2_Missense_Mutation_p.K190N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	190					fusion of sperm to egg plasma membrane	extracellular space		p.K190N(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGACGCCTGTCTTATAAGGTT	0.358000													48	273					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42537628	42537628	+	RNA	SNP	T	T	C	rs150786922	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:42537628T>C	ENST00000435101.1	-	0	108				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						AGGAACAGGTTACCCACCACT	0.612000													4	38					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125301253	125301253	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:125301253G>T	ENST00000298282.9	+	13	1655	c.1384G>T	c.(1384-1386)Gac>Tac	p.D462Y	PKNOX2_ENST00000542175.1_Missense_Mutation_p.D398Y|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	462						nucleus	sequence-specific DNA binding transcription factor activity	p.D462Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AAATGTCAGCGACCTGGGCTT	0.587000													24	81					7.92952e-12	9.53805e-12	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922547	24922547	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:24922547C>A	ENST00000329468.2	+	1	2007	c.1533C>A	c.(1531-1533)gtC>gtA	p.V511V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.V511V(2)									AGCCTCCCGTCACAAGGGAGT	0.537000													93	130					2.179e-33	3.45274e-33	1	1	0
RUNDC3A	10900	broad.mit.edu	37	17	42394865	42394865	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:42394865C>G	ENST00000225441.7	+	11	1448	c.1211C>G	c.(1210-1212)cCa>cGa	p.P404R	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.P399R|RUNDC3A_ENST00000426726.3_Intron	NM_001144826.1|NM_006695.4	NP_001138298.1|NP_006686.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	0					small GTPase mediated signal transduction		small GTPase regulator activity	p.P404R(2)		large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		agctcagagccaaattagtgg	0.493000													6	31					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60064675	60064675	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:60064675G>T	ENST00000355131.3	+	4	373	c.150G>T	c.(148-150)gtG>gtT	p.V50V	MS4A4A_ENST00000532114.1_Silent_p.V69V|MS4A4A_ENST00000337908.4_Silent_p.V69V|MS4A4A_ENST00000395016.3_Silent_p.V50V	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	69						integral to membrane	receptor activity	p.V50V(2)|p.V69V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TTTAGGTTGTGCAGATTCTGA	0.423000													93	342					4.49162e-49	7.89154e-49	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130425910	130425910	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:130425910G>A	ENST00000356763.3	-	11	3160	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	868					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.P868L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CATGTTTGGTGGGTCCAGTGA	0.443000													59	166					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102509514	102509514	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:102509514G>A	ENST00000370296.2	+	2	605	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	PAX2_ENST00000553492.1_Intron|PAX2_ENST00000556085.1_Missense_Mutation_p.G18S|PAX2_ENST00000355243.3_Missense_Mutation_p.G19S|PAX2_ENST00000428433.1_Missense_Mutation_p.G19S|PAX2_ENST00000361791.3_Missense_Mutation_p.G19S			Q02962	PAX2_HUMAN	paired box 2	19	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.G19S(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGGGCACGGGGGTGTGAACCA	0.672000													7	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452755	179452755	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179452755G>C	ENST00000589042.1	-	305	63603	c.63379C>G	c.(63379-63381)Cgc>Ggc	p.R21127G	TTN_ENST00000342992.6_Missense_Mutation_p.R18559G|TTN_ENST00000342175.6_Missense_Mutation_p.R12254G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12187G|TTN_ENST00000460472.2_Missense_Mutation_p.R12062G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19486G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19486	Fibronectin type-III 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R18559G(2)|p.R12187G(2)|p.R18557G(2)|p.R12062G(2)|p.R12254G(2)		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)			AATTCCTTGCGTACAAGCTGT	0.473000													13	74					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416157	5416157	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:5416157C>A	ENST00000341928.2	-	13	2067	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R576I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	576	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.R576I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGTTTGCTGTCTGTAGCTAAA	0.577000													66	173					1.356e-25	1.97924e-25	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124364246	124364246	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:124364246G>A	ENST00000409039.3	+	49	8203	c.8178G>A	c.(8176-8178)agG>agA	p.R2726R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2726					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1318R(2)|p.R2726R(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGTGATGAGGGATCCCATAT	0.493000													514	579					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93004039	93004039	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:93004039G>T	ENST00000523629.1	-	7	1273	c.819C>A	c.(817-819)ggC>ggA	p.G273G	RUNX1T1_ENST00000422361.2_Silent_p.G236G|RUNX1T1_ENST00000436581.2_Silent_p.G284G|RUNX1T1_ENST00000360348.2_Silent_p.G236G|RUNX1T1_ENST00000265814.3_Silent_p.G273G|RUNX1T1_ENST00000518844.1_Silent_p.G246G|RUNX1T1_ENST00000396218.1_Silent_p.G246G|RUNX1T1_ENST00000520724.1_Silent_p.G236G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	273					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G273G(2)|p.G284G(2)|p.G236G(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTACCGCTGGCCTGGGCTAA	0.507000													57	112					5.82218e-30	8.85578e-30	1	1	0
MDC1	9656	broad.mit.edu	37	6	30680116	30680116	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:30680116T>C	ENST00000376406.3	-	5	2250	c.1603A>G	c.(1603-1605)Att>Gtt	p.I535V	MDC1_ENST00000376405.2_Missense_Mutation_p.I535V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	535	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.I535V(2)		breast(2)|kidney(1)|ovary(1)	4						ATATGTATAATGGCTGACCCT	0.502000								Other conserved DNA damage response genes					19	92					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835510	247835510	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:247835510C>A	ENST00000359688.2	-	1	855	c.834G>T	c.(832-834)gtG>gtT	p.V278V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V278V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGTGGGAGTCACAAGAGTAT	0.438000													105	209					5.09347e-41	8.57194e-41	1	1	0
ZNF570	148268	broad.mit.edu	37	19	37976118	37976118	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:37976118A>T	ENST00000330173.1	+	5	2123	c.1594A>T	c.(1594-1596)Aat>Tat	p.N532Y	ZNF570_ENST00000586475.1_Missense_Mutation_p.N588Y|ZNF570_ENST00000388801.3_Missense_Mutation_p.N329Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N532Y(2)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			caacccagtcaatcaccaagt	0.408000													31	60					0	0	1	0	0
ATOH8	84913	broad.mit.edu	37	2	85991289	85991289	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:85991289G>C	ENST00000306279.3	+	2	1240	c.944G>C	c.(943-945)cGt>cCt	p.R315P	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	315					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R315P(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCGAGGGACGTGCCAAGAAG	0.657000													10	83					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115346543	115346543	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:115346543G>T	ENST00000357872.4	+	14	2323	c.2199G>T	c.(2197-2199)agG>agT	p.R733S		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		733					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.R733S(2)									TGGTAACCAGGGATCTTGTTT	0.308000													33	90					5.71845e-15	7.30691e-15	1	1	0
PER2	8864	broad.mit.edu	37	2	239164502	239164502	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:239164502C>A	ENST00000254657.3	-	18	2395	c.2116G>T	c.(2116-2118)Ggc>Tgc	p.G706C	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	706	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.G706C(2)		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)		AGGGCAGGGCCCGCCAGGCAG	0.587000													13	51					0.00316338	0.00329356	1	1	0
MRPL39	54148	broad.mit.edu	37	21	26969716	26969716	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:26969716C>A	ENST00000307301.7	-	6	640	c.599G>T	c.(598-600)cGt>cTt	p.R200L	MRPL39_ENST00000352957.4_Missense_Mutation_p.R200L	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	200						mitochondrial ribosome	nucleotide binding	p.R200L(4)		endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TGTGAAGGAACGTAAGTTCTC	0.328000													14	38					0.00498961	0.00515253	1	1	0
ADH1B	125	broad.mit.edu	37	4	100235229	100235229	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:100235229C>A	ENST00000305046.8	-	6	644	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	ADH1B_ENST00000394887.3_Missense_Mutation_p.G153C			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	193					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.G193C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGGTAGAGCCTGGGGTGACC	0.468000													155	326					5.03958e-58	9.15082e-58	1	1	0
TEX2	55852	broad.mit.edu	37	17	62230430	62230430	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:62230430C>G	ENST00000258991.3	-	10	3120	c.3036G>C	c.(3034-3036)gaG>gaC	p.E1012D	TEX2_ENST00000581812.1_5'UTR|TEX2_ENST00000583097.1_Missense_Mutation_p.E1005D|TEX2_ENST00000584379.1_Missense_Mutation_p.E1005D			Q8IWB9	TEX2_HUMAN	testis expressed 2	1005					signal transduction|sphingolipid metabolic process	integral to membrane		p.E1012D(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAAACTCTGTCTCTGTTGCTT	0.388000													7	33					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86702201	86702201	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:86702201G>T	ENST00000441037.2	+	4	389	c.294G>T	c.(292-294)atG>atT	p.M98I	AGBL1_ENST00000421325.2_Missense_Mutation_p.M98I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	98					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.M98I(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGGAGCCATGGAACTGCTTT	0.443000													100	194					2.2287e-75	4.23956e-75	1	1	0
SLC39A6	25800	broad.mit.edu	37	18	33706321	33706321	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:33706321T>A	ENST00000269187.5	-	2	863	c.650A>T	c.(649-651)gAt>gTt	p.D217V	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.D217V	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	217						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.D217V(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GCTGCTTACATCTTTGGGGAA	0.498000													18	38					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939673	47939673	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:47939673G>C	ENST00000402813.3	-	10	1187	c.1045C>G	c.(1045-1047)Cgt>Ggt	p.R349G	CNGA1_ENST00000514170.1_Missense_Mutation_p.R280G|CNGA1_ENST00000544810.1_Missense_Mutation_p.R280G|CNGA1_ENST00000358519.4_Missense_Mutation_p.R280G|CNGA1_ENST00000420489.2_Missense_Mutation_p.R280G			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	280					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	p.R280G(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCAAACATACGAGAGAACCGT	0.363000													43	141					0	0	1	0	0
PAG1	55824	broad.mit.edu	37	8	81905543	81905543	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:81905543C>A	ENST00000220597.4	-	4	631		c.e4-1			NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1						epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGCTGTGTCCTGCAAAGAGA	0.572000													10	24					0.361761	0.362238	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226822507	226822507	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:226822507C>A	ENST00000429204.1	-	8	3033	c.2706G>T	c.(2704-2706)acG>acT	p.T902T	ITPKB_ENST00000272117.3_Silent_p.T902T	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	902							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.T902T(2)|p.T428T(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGGCAGGGGCGTGGTTTTCC	0.597000													7	28					7.48243e-07	8.31503e-07	1	1	0
DPT	1805	broad.mit.edu	37	1	168670292	168670292	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:168670292T>A	ENST00000367817.3	-	3	591	c.502A>T	c.(502-504)Atc>Ttc	p.I168F		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	168	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix		p.I168F(2)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GCTCCTCGGATATAGTAATCA	0.443000													377	879					0	0	1	0	0
ACP5	54	broad.mit.edu	37	19	11687570	11687570	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:11687570A>T	ENST00000592828.1	-	5	752	c.350T>A	c.(349-351)gTc>gAc	p.V117D	ACP5_ENST00000218758.5_Missense_Mutation_p.V117D|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.V117D|ACP5_ENST00000412435.2_Missense_Mutation_p.V117D	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	117					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.V117D(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CTGGGCAGAGACATTGCCAAG	0.562000													11	60					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563130	129563130	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:129563130C>A	ENST00000422113.2	-	8	2390	c.2064G>T	c.(2062-2064)agG>agT	p.R688S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R226S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	688						integral to membrane		p.R688S(2)		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)		CAAAGATGGCCCTGTTGCTTC	0.582000													116	129					1.40678e-64	2.59161e-64	1	1	0
NAPB	63908	broad.mit.edu	37	20	23370621	23370621	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:23370621G>C	ENST00000377026.4	-	7	608	c.523C>G	c.(523-525)Ctt>Gtt	p.L175V	NAPB_ENST00000398425.3_Missense_Mutation_p.L81V|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000432543.2_Missense_Mutation_p.L136V	NM_022080.2	NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	175					intracellular protein transport|vesicle-mediated transport	membrane		p.L175V(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					TACTGCTCAAGCTGGGCAGCA	0.398000													52	256					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033148	82033148	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:82033148C>A	ENST00000328945.5	-	3	877	c.750G>T	c.(748-750)caG>caT	p.Q250H		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	250					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	p.Q250H(2)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						TGAAGTAGGGCTGCCCAGAGG	0.567000													76	318					1.71158e-18	2.29116e-18	1	1	0
FBXL7	23194	broad.mit.edu	37	5	15936573	15936573	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:15936573A>C	ENST00000504595.1	+	4	1235	c.754A>C	c.(754-756)Acc>Ccc	p.T252P	FBXL7_ENST00000510662.1_Missense_Mutation_p.T205P|FBXL7_ENST00000329673.7_Missense_Mutation_p.T240P	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	252					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.T252P(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTCCAAAGTGACCTGCATCAG	0.577000													26	59					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248028078	248028078	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:248028078G>A	ENST00000366481.3	+	3	636	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	196						intracellular	zinc ion binding	p.E196E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGCCCAGGAGGAGCAACGGC	0.612000													5	16					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187077232	187077232	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:187077232G>T	ENST00000356371.5	+	7	1335	c.1335G>T	c.(1333-1335)ccG>ccT	p.P445P	FAM149A_ENST00000227065.4_Silent_p.P154P|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000502970.1_Silent_p.P154P|FAM149A_ENST00000389354.5_Silent_p.P154P|FAM149A_ENST00000503432.1_Silent_p.P154P|FAM149A_ENST00000514153.1_Silent_p.P154P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	445								p.P154P(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTGTTTCCCCGCGTGACTGTG	0.458000													29	91					3.73988e-18	4.97995e-18	1	1	0
ZMAT1	84460	broad.mit.edu	37	X	101152935	101152935	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:101152935C>A	ENST00000372782.3	-	5	458	c.411G>T	c.(409-411)caG>caT	p.Q137H	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.Q137H	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding	p.Q137H(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CATAGTGAGACTGAGCAATAA	0.413000													499	229					5.86252e-199	1.18342e-198	1	1	0
MARCO	8685	broad.mit.edu	37	2	119749443	119749443	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:119749443G>T	ENST00000541757.1	+	15	1345	c.965G>T	c.(964-966)gGa>gTa	p.G322V	MARCO_ENST00000327097.4_Missense_Mutation_p.G400V			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	400	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G400V(2)		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						GGAGACCAGGGAGTGAAAGGT	0.547000													9	9					1.41608e-15	1.82479e-15	1	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64606195	64606195	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:64606195A>G	ENST00000342711.5	-	8	1055	c.1056T>C	c.(1054-1056)taT>taC	p.Y352Y		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	352	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Y352Y(2)		central_nervous_system(1)|lung(3)	4						GCTCAGGAATATAGGGGGCCG	0.617000													3	12					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20948973	20948973	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:20948973G>C	ENST00000298925.5	+	9	1116	c.963G>C	c.(961-963)agG>agC	p.R321S	NELL1_ENST00000532434.1_Missense_Mutation_p.R293S|NELL1_ENST00000325319.5_Missense_Mutation_p.R236S|NELL1_ENST00000357134.5_Missense_Mutation_p.R293S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	293	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.R293S(2)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACCATTGCAGGAACTGCACTT	0.383000													34	74					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265001	198265001	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:198265001G>A	ENST00000335508.5	-	19	2967	c.2876C>T	c.(2875-2877)gCt>gTt	p.A959V		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	959					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.A959V(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATGACAACAGCAGTTCGAGA	0.348000			Mis		myelodysplastic syndrome								38	91					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44254167	44254167	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:44254167C>A	ENST00000371505.4	-	3	502	c.380G>T	c.(379-381)aGt>aTt	p.S127I	TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	127								p.S127I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTAGTTCTCACTGTCTATCAG	0.607000													4	56					0.00024832	0.000264341	1	1	0
LY75	4065	broad.mit.edu	37	2	160741774	160741774	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:160741774G>A	ENST00000263636.4	-	6	971	c.944C>T	c.(943-945)tCc>tTc	p.S315F	LY75_ENST00000553424.1_Missense_Mutation_p.S315F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S315F|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S315F|LY75_ENST00000554112.1_Missense_Mutation_p.S315F	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.S315F(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGCACAGCTGGAGCCACCTAT	0.448000													46	126					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744734	50744734	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:50744734C>A	ENST00000300589.2	+	4	1017	c.912C>A	c.(910-912)ggC>ggA	p.G304G	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	304	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.G304G(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGGGCAGTGGCAAGAGCACGC	0.627000													9	24					1.76689e-08	2.0016e-08	1	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69100244	69100244	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:69100244G>T	ENST00000332644.5	-	5	567	c.406C>A	c.(406-408)Cat>Aat	p.H136N		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	136	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.H136N(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AACATCTGATGTAATTTAGCC	0.378000													66	232					1.00194e-58	1.82805e-58	1	1	0
CNTN5	53942	broad.mit.edu	37	11	99941253	99941253	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:99941253G>T	ENST00000524871.1	+	11	1550	c.1260G>T	c.(1258-1260)acG>acT	p.T420T	CNTN5_ENST00000527185.1_Silent_p.T420T|CNTN5_ENST00000279463.3_Silent_p.T420T|CNTN5_ENST00000418526.2_Silent_p.T346T|CNTN5_ENST00000528682.1_Silent_p.T420T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	420	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.T420T(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCAGACCCACGTATCGTTGGC	0.478000													28	92					6.07407e-21	8.47467e-21	1	1	0
CDH2	1000	broad.mit.edu	37	18	25727729	25727729	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:25727729C>A	ENST00000269141.3	-	2	503	c.80G>T	c.(79-81)gGt>gTt	p.G27V		NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	27					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G27V(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGCGATTTCACCAGAAGCCTC	0.413000													17	27					4.35082e-09	4.95093e-09	1	1	0
FBXO47	494188	broad.mit.edu	37	17	37119170	37119170	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:37119170G>A	ENST00000378079.2	-	2	308	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	37								p.P37S(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GTTGATATGGGTTGAAAGCCT	0.353000													22	79					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432892	111432892	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:111432892T>G	ENST00000393934.3	+	3	1353	c.783T>G	c.(781-783)caT>caG	p.H261Q	PLCXD2_ENST00000477665.1_Missense_Mutation_p.H261Q|PLCXD2_ENST00000472215.1_3'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	261					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.H261Q(2)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GCTCCTTCCATGTCTCCCAAG	0.562000													32	105					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121882033	121882033	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:121882033C>A	ENST00000377069.4	-	16	2546	c.2140G>T	c.(2140-2142)Ggc>Tgc	p.G714C	KDM2B_ENST00000377071.4_Missense_Mutation_p.G745C|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.G113C	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	745					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.G384C(2)|p.G745C(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCAGGGAGCCGGGCAGGTTG	0.572000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	15					7.93312e-07	8.80298e-07	1	1	0
ANO5	203859	broad.mit.edu	37	11	22248963	22248963	+	Missense_Mutation	SNP	G	G	A	rs150652958		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:22248963G>A	ENST00000324559.8	+	7	796	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	160						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.R160H(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATATTCCCCGCCCTAAGCAC	0.433000													117	190					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186114898	186114898	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:186114898G>T	ENST00000271588.4	+	93	14680	c.14451G>T	c.(14449-14451)tgG>tgT	p.W4817C	HMCN1_ENST00000367492.2_Missense_Mutation_p.W4817C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4817	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.W4817C(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGAAGTTGGGGAAGCTGGC	0.502000													40	143					1.86277e-20	2.58e-20	1	1	0
WDR17	116966	broad.mit.edu	37	4	177069477	177069477	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:177069477G>T	ENST00000393643.2	+	13	2140	c.1888G>T	c.(1888-1890)Gat>Tat	p.D630Y	WDR17_ENST00000507824.2_Missense_Mutation_p.D637Y|WDR17_ENST00000280190.4_Missense_Mutation_p.D654Y|WDR17_ENST00000508596.1_Missense_Mutation_p.D630Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	654								p.D654Y(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCACGGTGCAGATGTATATGG	0.363000													45	141					3.10996e-30	4.73988e-30	1	1	0
GABRG2	2566	broad.mit.edu	37	5	161495054	161495054	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:161495054C>A	ENST00000356592.3	+	1	509	c.49C>A	c.(49-51)Cct>Act	p.P17T	GABRG2_ENST00000414552.2_Missense_Mutation_p.P17T|GABRG2_ENST00000393933.4_De_novo_Start_InFrame|GABRG2_ENST00000361925.4_Missense_Mutation_p.P17T	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	17					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.P17T(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTACTCGACTCCTGTATTTTC	0.463000													34	58					3.33635e-10	3.88388e-10	1	1	0
GBP1	2633	broad.mit.edu	37	1	89523826	89523826	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:89523826G>A	ENST00000370473.4	-	6	942	c.723C>T	c.(721-723)ccC>ccT	p.P241P		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	241					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.P241P(2)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGCGGTGAACGGGCCGATCAA	0.438000													71	200					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236192920	236192920	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:236192920C>A	ENST00000264187.6	-	7	1750	c.1668G>T	c.(1666-1668)gtG>gtT	p.V556V	NID1_ENST00000366595.3_Silent_p.V556V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	556	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.V556V(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAATCTGCGGCACGCGGCCCT	0.642000													6	7					0.0293803	0.0297726	1	1	0
CXADRP3	440224	broad.mit.edu	37	18	14478229	14478229	+	RNA	SNP	T	T	C	rs9956181	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:14478229T>C	ENST00000581457.1	-	0	1679					NR_024076.1																						CCCATTCGACTTAGATTAGGG	0.478000													5	54					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189929366	189929366	+	Silent	SNP	G	G	T	rs145258293		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:189929366G>T	ENST00000374866.3	-	25	1907	c.1633C>A	c.(1633-1635)Cgg>Agg	p.R545R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	545					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.R545R(2)		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)			ACAGGACCCCGTTCTCCTTGA	0.478000													10	76					2.80697e-09	3.20375e-09	1	1	0
IL27	246778	broad.mit.edu	37	16	28515060	28515060	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:28515060G>T	ENST00000356897.1	-	3	281	c.259C>A	c.(259-261)Ctc>Atc	p.L87I		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	87					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	p.L87I(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ACATCAGGGAGCTGCTCTCCC	0.647000													12	42					1.52009e-12	1.85789e-12	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113529424	113529424	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:113529424C>A	ENST00000297405.5	-	28	4839	c.4595G>T	c.(4594-4596)gGg>gTg	p.G1532V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1428V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1532V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1492V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1532	Sushi 8.					integral to membrane|plasma membrane		p.G1532V(2)|p.G1492V(2)		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						CATGGGGACCCCTGGGTCACG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			62	89					1.93348e-29	2.93502e-29	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130313158	130313158	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:130313158C>A	ENST00000358511.6	+	17	4535	c.4504C>A	c.(4504-4506)Cgt>Agt	p.R1502S	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1502S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1502	Triple-helical region.				axon guidance|cell adhesion	collagen		p.R1502S(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCTGGTGACCGTGGAGCAAA	0.463000													65	211					3.30373e-36	5.33518e-36	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112202	248112202	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:248112202G>T	ENST00000357191.3	+	1	43	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G15W(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATCTTATTGGGGCTGTTTCC	0.368000													179	364					7.74384e-107	1.52269e-106	1	1	0
ACAN	176	broad.mit.edu	37	15	89400186	89400186	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:89400186T>C	ENST00000439576.2	+	12	4744	c.4370T>C	c.(4369-4371)cTa>cCa	p.L1457P	ACAN_ENST00000352105.7_Missense_Mutation_p.L1457P|ACAN_ENST00000561243.1_Missense_Mutation_p.L1457P|ACAN_ENST00000559004.1_Missense_Mutation_p.L1457P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1457					cell adhesion		hyaluronic acid binding|sugar binding	p.L1343P(4)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGAAGTTCTAGAGACTTCT	0.517000													13	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047436	9047436	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:9047436C>A	ENST00000397910.4	-	5	34398	c.34195G>T	c.(34195-34197)Gat>Tat	p.D11399Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11401	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D7032Y(2)|p.D11399Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGGTACATCAGGTGAGACA	0.463000													328	528					7.11254e-134	1.42064e-133	1	1	0
ARAF	369	broad.mit.edu	37	X	47426307	47426307	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:47426307G>T	ENST00000377045.4	+	8	918	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	242					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.D242Y(2)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TTTCAGCACTGATGGTGAGTC	0.587000													8	18					0.000274275	0.000291154	1	1	0
SLC25A13	10165	broad.mit.edu	37	7	95818951	95818951	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:95818951C>A	ENST00000416240.2	-	8	980	c.790G>T	c.(790-792)Gtt>Ttt	p.V264F	SLC25A13_ENST00000265631.5_Missense_Mutation_p.V264F|SLC25A13_ENST00000542654.1_Missense_Mutation_p.V156F	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	264					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	p.V264F(2)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATGGGTGTAACCTGACCAAAT	0.353000													89	223					1.03625e-30	1.58891e-30	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75828759	75828759	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:75828759C>A	ENST00000322507.8	-	46	7663	c.7354_splice	c.e46+1	p.G2452_splice	COL12A1_ENST00000483888.2_Splice_Site_p.G2452_splice|COL12A1_ENST00000416123.2_Splice_Site_p.G2452_splice|COL12A1_ENST00000345356.6_Splice_Site_p.G1288_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2452	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.G2452W(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGTGCTTGCCTGACTGCTGG	0.423000													62	221					8.3131e-28	1.24451e-27	1	1	0
SLC22A6	9356	broad.mit.edu	37	11	62751943	62751943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:62751943G>A	ENST00000377871.3	-	1	486	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	SLC22A6_ENST00000360421.4_Nonsense_Mutation_p.Q74*|SLC22A6_ENST00000458333.2_Nonsense_Mutation_p.Q74*|SLC22A6_ENST00000421062.2_Nonsense_Mutation_p.Q74*	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	74					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.Q74*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GACTCAGGCTGCCCCTGCCTG	0.677000													32	44					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380871	56380871	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:56380871T>A	ENST00000526538.1	-	1	107	c.108A>T	c.(106-108)ctA>ctT	p.L36L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L36L(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CCAGTGTGATTAGGTAGATCG	0.498000													146	409					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43411214	43411214	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:43411214G>T	ENST00000039989.4	+	3	276	c.262G>T	c.(262-264)Gct>Tct	p.A88S	TTC17_ENST00000299240.6_Missense_Mutation_p.A88S	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	88							binding	p.A88S(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ACAATTAGTTGCTCAAAAAAT	0.383000													37	71					2.75727e-19	3.75722e-19	1	1	0
OARD1	221443	broad.mit.edu	37	6	41036604	41036604	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:41036604C>A	ENST00000479950.1	-	5	645	c.332G>T	c.(331-333)gGa>gTa	p.G111V	OARD1_ENST00000482515.1_Intron|OARD1_ENST00000480585.1_Intron|OARD1_ENST00000486443.1_Missense_Mutation_p.G72V|OARD1_ENST00000468811.1_Missense_Mutation_p.G111V|OARD1_ENST00000464633.1_Intron|OARD1_ENST00000463088.1_Missense_Mutation_p.G111V|OARD1_ENST00000424266.2_Missense_Mutation_p.G111V|OARD1_ENST00000244558.9_Intron|OARD1_ENST00000373154.2_Intron					O-acyl-ADP-ribose deacylase 1									p.G111V(2)|p.G111E(1)									GTCAGTGACTCCATTCTTCAG	0.408000													14	19					5.01169e-05	5.39557e-05	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113988231	113988231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:113988231C>A	ENST00000297405.5	-	7	1421	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E393*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E353*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	393						integral to membrane|plasma membrane		p.E393*(2)|p.E353*(2)		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						ACTCGCTGTTCCTCGGAAAGT	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	175					1.22674e-20	1.70531e-20	1	1	0
WNT1	7471	broad.mit.edu	37	12	49374219	49374219	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:49374219C>A	ENST00000293549.3	+	3	407	c.371C>A	c.(370-372)aCg>aAg	p.T124K		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	124					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.T124K(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TGTCGAGAAACGGCGTTTATC	0.652000													7	14					0.00621372	0.00639053	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173525608	173525608	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:173525608G>T	ENST00000457714.1	+	4	1061	c.632G>T	c.(631-633)cGa>cTa	p.R211L	NLGN1_ENST00000545397.1_Missense_Mutation_p.R211L|NLGN1_ENST00000401917.3_Missense_Mutation_p.R251L|NLGN1_ENST00000361589.4_Missense_Mutation_p.R211L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	228					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.R211L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTCAACTATCGACTTGGAGTA	0.383000													48	137					6.3237e-29	9.58022e-29	1	1	0
GLYATL2	219970	broad.mit.edu	37	11	58604550	58604550	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:58604550T>C	ENST00000287275.1	-	5	804	c.414A>G	c.(412-414)ccA>ccG	p.P138P	GLYATL2_ENST00000532258.1_Silent_p.P138P|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	138						mitochondrion	glycine N-acyltransferase activity	p.P138P(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGTGTTTCTTTGGTAATTCCG	0.378000													87	229					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104632	184104632	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:184104632G>T	ENST00000204604.1	+	17	2442		c.e17-1		CHRD_ENST00000545352.1_Splice_Site|CHRD_ENST00000450923.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Splice_Site	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.?(4)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCTCTGCAGAGACGAACGG	0.652000													16	33					8.60227e-14	1.07919e-13	1	1	0
AMER2	219287	broad.mit.edu	37	13	25744474	25744474	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:25744474C>A	ENST00000357816.2	-	3	1402	c.927G>T	c.(925-927)ccG>ccT	p.P309P	AMER2_ENST00000381853.3_Silent_p.P309P|AMER2_ENST00000515384.1_Silent_p.P428P					APC membrane recruitment protein 2									p.P428P(2)|p.P309P(2)									CCACCTCGTCCGGGCTGGCCA	0.652000													7	10					0.00198382	0.00207114	1	1	0
INTS5	80789	broad.mit.edu	37	11	62415695	62415695	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:62415695C>A	ENST00000330574.2	-	2	1909	c.1857G>T	c.(1855-1857)gaG>gaT	p.E619D		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	619					snRNA processing	integral to membrane|integrator complex	protein binding	p.E619D(2)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CAGCTACTTCCTCCTCAGGAT	0.617000													13	27					9.31168e-06	1.01692e-05	1	1	0
EPAS1	2034	broad.mit.edu	37	2	46611777	46611777	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:46611777G>T	ENST00000263734.3	+	16	3101	c.2591G>T	c.(2590-2592)aGa>aTa	p.R864I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	864	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R864I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACCTCCTCAGAGCCCTGGAC	0.607000													8	25					5.68852e-11	6.76738e-11	1	1	0
SLC47A1	55244	broad.mit.edu	37	17	19445753	19445753	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:19445753G>T	ENST00000270570.4	+	2	269	c.183G>T	c.(181-183)gtG>gtT	p.V61V	SLC47A1_ENST00000395585.1_Silent_p.V61V|SLC47A1_ENST00000436810.2_Silent_p.V61V|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000542886.1_Silent_p.V61V|SLC47A1_ENST00000457293.1_Silent_p.V61V|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000575023.1_Silent_p.V61V	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	61						integral to membrane|plasma membrane	drug:hydrogen antiporter activity	p.V61V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TAAGCTCCGTGTTCTGTGGCC	0.557000													16	35					5.03518e-11	5.99954e-11	1	1	0
CHRNG	1146	broad.mit.edu	37	2	233406159	233406159	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:233406159G>A	ENST00000389494.3	+	5	447	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	142					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	p.P142P(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		ACTGGCTGCCGCCTGCCATCT	0.577000													26	109					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100672318	100672318	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:100672318G>T	ENST00000268070.4	-	12	1720	c.1615C>A	c.(1615-1617)Ccg>Acg	p.P539T		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	539	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P539T(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACATGCTCCGGGATGGGCGTC	0.672000											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	15					2.27111e-07	2.53869e-07	1	1	0
PCOLCE2	26577	broad.mit.edu	37	3	142537297	142537297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:142537297G>T	ENST00000295992.3	-	9	1434	c.1128C>A	c.(1126-1128)taC>taA	p.Y376*	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.H297N	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	376	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.Y376*(2)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCATAATAATGTAATTTAGAC	0.363000													56	221					1.15062e-32	1.81187e-32	1	1	0
CELF4	56853	broad.mit.edu	37	18	34854816	34854816	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:34854816G>C	ENST00000420428.2	-	5	1004	c.609C>G	c.(607-609)gcC>gcG	p.A203A	CELF4_ENST00000361795.5_Silent_p.A202A|CELF4_ENST00000601019.1_Silent_p.A202A|CELF4_ENST00000412753.1_Silent_p.A203A|CELF4_ENST00000603232.1_Silent_p.A203A|CELF4_ENST00000334919.5_Silent_p.A193A|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000591287.1_Silent_p.A202A|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000591282.1_Silent_p.A203A|CELF4_ENST00000588597.1_Silent_p.A192A	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	203	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.A203A(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCTGCGCCTCGGCGTGGGAGG	0.736000													3	7					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3428348	3428348	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:3428348C>T	ENST00000324266.5	+	5	1526	c.1331C>T	c.(1330-1332)gCt>gTt	p.A444V	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A444V	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	444							binding	p.A444V(2)									TTCCAGAATGCTGAGATGGAA	0.448000													22	40					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646630	57646630	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:57646630C>T	ENST00000269834.1	-	5	1460	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G359R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTCTCTTCCCAGTGTGAATT	0.393000													75	118					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596702	142596702	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:142596702T>C	ENST00000370503.2	-	2	451	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	123								p.Q123R(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCATCCTCCTGTGAGGATCC	0.453000													1206	1888					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63987027	63987027	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:63987027G>C	ENST00000443617.2	-	28	5275	c.5188C>G	c.(5188-5190)Caa>Gaa	p.Q1730E	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1730					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.Q1730E(4)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACAACTGTTGATAAATTTTA	0.378000													86	108					0	0	1	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14248435	14248435	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:14248435G>T	ENST00000360954.2	+	2	1081	c.645G>T	c.(643-645)tcG>tcT	p.S215S		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	215					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	p.S215S(2)		large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGCGCATCTCGGCCATGTCCA	0.642000													28	34					1.07637e-12	1.32409e-12	1	1	0
KLK15	55554	broad.mit.edu	37	19	51330233	51330233	+	Missense_Mutation	SNP	G	G	T	rs7247190		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:51330233G>T	ENST00000326856.4	-	4	508	c.379C>A	c.(379-381)Ccc>Acc	p.P127T	KLK15_ENST00000301421.2_Missense_Mutation_p.P128T|KLK15_ENST00000596931.1_Missense_Mutation_p.P127T|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000598239.1_Missense_Mutation_p.P128T	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	128	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P128T(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAACGCGTGGGTAGCACCGCG	0.711000													19	41					6.33239e-15	8.07778e-15	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89480412	89480412	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:89480412G>T	ENST00000336596.2	+	13	2474	c.2249G>T	c.(2248-2250)cGg>cTg	p.R750L	EPHA3_ENST00000494014.1_Missense_Mutation_p.R750L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	750	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding	p.R750L(2)|p.R750Q(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTCGCTGCTCGGAACATCTTG	0.488000										TSP Lung(6;0.00050)			38	61					2.52449e-32	3.95069e-32	1	1	0
TINAG	27283	broad.mit.edu	37	6	54214562	54214562	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:54214562C>A	ENST00000259782.4	+	7	1044	c.948C>A	c.(946-948)acC>acA	p.T316T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	316					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.T316T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AAAATGCTACCAACAATGGAT	0.443000													167	414					2.57245e-67	4.79726e-67	1	1	0
CDH7	1005	broad.mit.edu	37	18	63511299	63511299	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:63511299G>C	ENST00000536984.2	+	7	1927	c.1233G>C	c.(1231-1233)gtG>gtC	p.V411V	CDH7_ENST00000397968.2_Silent_p.V411V|CDH7_ENST00000323011.3_Silent_p.V411V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	411	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V411V(4)		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)				ATAGCCCTGTGAGGTAAAAAC	0.418000													79	142					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113504881	113504881	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:113504881G>T	ENST00000297405.5	-	31	5359	c.5115C>A	c.(5113-5115)ggC>ggA	p.G1705G	CSMD3_ENST00000455883.2_Silent_p.G1601G|CSMD3_ENST00000352409.3_Silent_p.G1705G|CSMD3_ENST00000343508.3_Silent_p.G1665G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1705	Sushi 9.					integral to membrane|plasma membrane		p.G1705G(3)|p.G1665G(2)		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						TCATTATATTGCCTGGATCAA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			157	252					3.59702e-68	6.72449e-68	1	1	0
BTBD11	121551	broad.mit.edu	37	12	108042981	108042981	+	Splice_Site	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:108042981A>T	ENST00000280758.5	+	15	3450		c.e15-1		BTBD11_ENST00000420571.2_Splice_Site|BTBD11_ENST00000494235.2_Splice_Site|BTBD11_ENST00000490090.2_Splice_Site|BTBD11_ENST00000357167.4_Splice_Site	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11							integral to membrane	DNA binding	p.?(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GTTTTCTTCCAGCTGGTTATG	0.468000													132	169					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183225911	183225911	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:183225911C>A	ENST00000341319.3	-	3	880	c.845G>T	c.(844-846)aGg>aTg	p.R282M		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	282								p.R282M(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGGGCACTGCCTGATGAGAGG	0.537000													79	212					2.61628e-32	4.08591e-32	1	1	0
NOD2	64127	broad.mit.edu	37	16	50745614	50745614	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:50745614C>A	ENST00000300589.2	+	4	1897	c.1792C>A	c.(1792-1794)Ccc>Acc	p.P598T		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	598	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.P598T(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAGTACGGCGCCCCTGGAATT	0.567000													8	30					0.00307968	0.00321082	1	1	0
PTGFR	5737	broad.mit.edu	37	1	78958693	78958693	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:78958693G>T	ENST00000370756.3	+	2	502	c.265G>T	c.(265-267)Gta>Tta	p.V89L	PTGFR_ENST00000370757.3_Missense_Mutation_p.V89L|PTGFR_ENST00000370758.1_Missense_Mutation_p.V89L	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	89					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.V89L(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGCCATAGCAGTATTTGTATA	0.428000													10	282					0.000673444	0.00071091	1	1	0
GRM8	2918	broad.mit.edu	37	7	126173167	126173167	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:126173167T>C	ENST00000339582.2	-	9	3077	c.2269A>G	c.(2269-2271)Atc>Gtc	p.I757V	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.I757V|GRM8_ENST00000444921.2_Missense_Mutation_p.I757V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	757					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.I757V(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)	ATCAAGAGGATACTGTATCCA	0.443000										HNSCC(24;0.065)			37	105					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42199282	42199282	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:42199282G>A	ENST00000373100.1	+	8	846	c.386G>A	c.(385-387)cGc>cAc	p.R129H	SGK2_ENST00000341458.4_Missense_Mutation_p.R189H|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000423407.3_Missense_Mutation_p.R129H|SGK2_ENST00000426287.1_Missense_Mutation_p.R155H|SGK2_ENST00000373077.1_Missense_Mutation_p.R128H|SGK2_ENST00000373092.3_Missense_Mutation_p.R129H			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	189	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	p.R189H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCGGGAGCGCCGGTTCCTG	0.637000													11	39					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81585042	81585042	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:81585042G>T	ENST00000394660.2	+	12	1926	c.1566G>T	c.(1564-1566)ggG>ggT	p.G522G	IL16_ENST00000302987.4_Silent_p.G522G	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	522					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.G522G(4)		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						GGTCCCCAGGGGGAAGTCCTG	0.607000													40	56					4.10826e-27	6.06648e-27	1	1	0
ANKRD32	84250	broad.mit.edu	37	5	94014519	94014519	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:94014519A>T	ENST00000265140.5	+	15	2253	c.1834A>T	c.(1834-1836)Aaa>Taa	p.K612*		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	612								p.K612*(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TTAGGTCTTCAAACATGAACT	0.299000													12	53					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107834586	107834586	+	Missense_Mutation	SNP	A	A	T	rs146218985	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:107834586A>T	ENST00000379028.3	-	17	2130	c.1660T>A	c.(1660-1662)Tat>Aat	p.Y554N	NRCAM_ENST00000379022.4_Missense_Mutation_p.Y554N|NRCAM_ENST00000379024.4_Missense_Mutation_p.Y535N|NRCAM_ENST00000413765.2_Missense_Mutation_p.Y535N|NRCAM_ENST00000351718.4_Missense_Mutation_p.Y548N|NRCAM_ENST00000425651.2_Missense_Mutation_p.Y554N			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	554	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.Y548N(2)|p.Y554N(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAACTGCATATTCGGGCTGT	0.413000													49	310					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864655	131864655	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:131864655G>T	ENST00000359827.3	-	20	4627	c.3665C>A	c.(3664-3666)tCc>tAc	p.S1222Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1222Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1222	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane		p.S1222Y(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCCCCGGGGAGTACTCCAT	0.647000													7	11					0.000157383	0.000168008	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7559189	7559189	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:7559189T>C	ENST00000313599.3	-	5	1083	c.1026A>G	c.(1024-1026)agA>agG	p.R342R	CD163L1_ENST00000396630.1_Silent_p.R342R|CD163L1_ENST00000416109.2_Silent_p.R352R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	342	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R342R(2)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCCGGAATGTCTGCAGTCCC	0.433000													46	126					0	0	1	0	0
LRWD1	222229	broad.mit.edu	37	7	102106703	102106703	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:102106703G>A	ENST00000292616.5	+	3	570	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	140					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	p.E140K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCTGAATCGGGAGCTGACCAG	0.512000													6	38					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531202	43531202	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:43531202A>T	ENST00000430334.3	-	7	2149	c.2016T>A	c.(2014-2016)ttT>ttA	p.F672L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.F583L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	672					intracellular signal transduction	cytoplasm	metal ion binding	p.F672L(2)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ACGACCAGTCAAACTGTGTGC	0.612000													36	83					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101253240	101253240	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:101253240A>G	ENST00000388798.2	+	19	2962	c.2771A>G	c.(2770-2772)tAt>tGt	p.Y924C	SPAG1_ENST00000251809.3_Missense_Mutation_p.Y924C	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	924					single fertilization	cytoplasm	GTP binding|hydrolase activity	p.Y924C(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAAAGGCAGTATGAGCTTTAA	0.368000													181	220					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48584628	48584628	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:48584628A>T	ENST00000537810.1	-	20	2476	c.1872T>A	c.(1870-1872)cgT>cgA	p.R624R	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.R624R|FRYL_ENST00000506685.1_Silent_p.R330R|FRYL_ENST00000507711.1_Silent_p.R624R|FRYL_ENST00000358350.4_Silent_p.R624R			O94915	FRYL_HUMAN	FRY-like	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R624R(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGTCACTTCACGAACAATAA	0.393000													25	109					0	0	1	0	0
RNF26	79102	broad.mit.edu	37	11	119207086	119207086	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:119207086C>T	ENST00000311413.4	+	1	1850	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	418							zinc ion binding	p.C418C(2)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		ACCGCAATTGCCCGCTCTGCC	0.642000													7	20					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75893229	75893229	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:75893229C>A	ENST00000322507.8	-	10	1737	c.1428G>T	c.(1426-1428)agG>agT	p.R476S	COL12A1_ENST00000483888.2_Missense_Mutation_p.R476S|COL12A1_ENST00000416123.2_Missense_Mutation_p.R476S|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	476	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.R476S(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAATCTGGACCCTATTTGGTG	0.353000													41	93					5.71845e-15	7.30691e-15	1	1	0
SNHG12	85028	broad.mit.edu	37	1	28907175	28907175	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:28907175G>T	ENST00000488745.1	-	0	1013				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA																							AGCAAAATGAGAACAACTGTC	0.423000													2	0					0.0784	0.0789199	1	1	0
ROBO4	54538	broad.mit.edu	37	11	124754957	124754957	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:124754957C>T	ENST00000306534.3	-	17	3466	c.2981G>A	c.(2980-2982)tGt>tAt	p.C994Y	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.C849Y	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	994					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.C994Y(2)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGCATACGACAGTGGAGCTG	0.587000													28	63					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24385442	24385442	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:24385442G>A	ENST00000330966.7	-	36	4193	c.4031C>T	c.(4030-4032)cCg>cTg	p.P1344L	MYOM3_ENST00000374434.3_Missense_Mutation_p.P1341L|MYOM3_ENST00000338909.5_Missense_Mutation_p.P234L|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1341	Ig-like C2-type 4.			A -> T (in Ref. 5; CAH10376).				p.P1341L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCACATCCGGCAGACCTCT	0.537000													3	16					0	0	1	0	0
GPR135	64582	broad.mit.edu	37	14	59930621	59930621	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:59930621T>A	ENST00000395116.1	-	1	1439	c.1324A>T	c.(1324-1326)Aac>Tac	p.N442Y		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	442						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N442Y(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GACATCCTGTTGCAGGCCCCC	0.632000													2	5					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53342725	53342725	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:53342725A>G	ENST00000566029.1	+	34	7342	c.7133A>G	c.(7132-7134)gAg>gGg	p.E2378G	CHD9_ENST00000564845.1_Missense_Mutation_p.E2378G|CHD9_ENST00000447540.1_Missense_Mutation_p.E2379G|CHD9_ENST00000398510.3_Missense_Mutation_p.E2394G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2394	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.E2395G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGTGCATCAGAGACCAGCCTC	0.438000													22	102					0	0	1	0	0
TRGC1	6966	broad.mit.edu	37	7	38305252	38305252	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:38305252G>T	ENST00000443402.2	-	0	27					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					AGTGGGCTTGGGGGAAACATC	0.378000													64	328					6.11987e-43	1.04853e-42	1	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204237428	204237428	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:204237428C>T	ENST00000272203.3	-	4	431	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A39T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	39								p.A39T(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCTTTGCGGGCTGTGCGAGTT	0.602000													41	178					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140972591	140972591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:140972591G>T	ENST00000277549.5	+	36	5126	c.2557G>T	c.(2557-2559)Gag>Tag	p.E853*	CACNA1B_ENST00000371365.2_Nonsense_Mutation_p.E23*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1658*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1657*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1660*|CACNA1B_ENST00000371372.1_Nonsense_Mutation_p.E1659*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1659*			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1659					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.E1659*(2)|p.E23*(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCCTGGCACGAGATCATGCT	0.607000													10	35					6.42651e-13	7.91838e-13	1	1	0
OR5D16	390144	broad.mit.edu	37	11	55607101	55607101	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55607101T>A	ENST00000378396.1	+	1	874	c.874T>A	c.(874-876)Tac>Aac	p.Y292N		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y292N(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCCCCTGATCTACAGTCTGAG	0.378000													55	181					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158583631	158583631	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:158583631C>A	ENST00000368148.3	-	50	7049	c.6869G>T	c.(6868-6870)cGc>cTc	p.R2290L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2287L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2290	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R2290L(2)		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)					GTGAGTCAGGCGCCCTGTCAA	0.408000													9	152					1.33987e-11	1.60657e-11	1	1	0
BTRC	8945	broad.mit.edu	37	10	103291028	103291028	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:103291028G>T	ENST00000370187.3	+	7	896	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	BTRC_ENST00000408038.2_Missense_Mutation_p.G224W|BTRC_ENST00000393441.4_Missense_Mutation_p.G219W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	260					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		p.G260W(3)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ACCTCCTGACGGGAATGCTCC	0.313000													47	62					3.40343e-31	5.25041e-31	1	1	0
AGO1	26523	broad.mit.edu	37	1	36381063	36381063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:36381063C>T	ENST00000373204.4	+	15	2161	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	AGO1_ENST00000373206.1_Nonsense_Mutation_p.Q575*	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1									p.Q650*(2)									GCTCCTCATCCAATTCTACAA	0.572000													30	100					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112235926	112235926	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:112235926G>T	ENST00000261733.2	+	10	1189	c.1128G>T	c.(1126-1128)acG>acT	p.T376T	ALDH2_ENST00000416293.3_Silent_p.T329T	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	376					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.T376T(4)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACATCAACACGGGGAAGCAAG	0.542000			T	HMGA2	leiomyoma								14	25					6.72482e-11	7.97522e-11	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53104085	53104085	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:53104085G>T	ENST00000408890.4	+	1	737	c.721G>T	c.(721-723)Ggc>Tgc	p.G241C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	241								p.G241C(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCGAGCCTCGGCCCCTGGAG	0.647000													4	22					2.0095e-06	2.21687e-06	1	1	0
FRMPD4	9758	broad.mit.edu	37	X	12734443	12734443	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:12734443A>G	ENST00000380682.1	+	15	2371	c.1865A>G	c.(1864-1866)tAc>tGc	p.Y622C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	622					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.Y612C(2)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGGCAGACTACAGAAGTCTA	0.512000													44	52					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13912364	13912364	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:13912364T>A	ENST00000284951.5	-	3	242	c.168A>T	c.(166-168)acA>acT	p.T56T	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.T56T			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	56						integral to membrane	binding	p.T56T(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CATTACTAGATGTTCTTTGTT	0.279000													33	78					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167327216	167327216	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:167327216C>A	ENST00000409855.1	-	6	699	c.572_splice	c.e6-1	p.E191_splice		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	191					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E191D(4)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTATAATAACCCTGTGGAATT	0.279000													9	27					2.68362e-12	3.25899e-12	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158644393	158644393	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:158644393A>T	ENST00000368148.3	-	9	1365	c.1185T>A	c.(1183-1185)gcT>gcA	p.A395A	SPTA1_ENST00000368147.3_Silent_p.A395A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	395				A -> G (in Ref. 3; AAA60575).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A395A(2)		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)					GCAGCTCATCAGCATTGATCG	0.507000													306	509					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604708	71604708	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:71604708T>A	ENST00000355962.4	-	8	919	c.786A>T	c.(784-786)ccA>ccT	p.P262P	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	262					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.P262P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GGGTGGCCAGTGGTTCATATT	0.552000													22	102					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51879644	51879644	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:51879644G>C	ENST00000453097.2	+	17	2463	c.2246G>C	c.(2245-2247)gGa>gCa	p.G749A	SLC4A8_ENST00000358657.3_Missense_Mutation_p.G776A	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	749					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.G749A(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTTTTGATTGGAGTCCCATCA	0.418000													129	169					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253520	65253520	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:65253520C>A	ENST00000389722.3	-	15	3216	c.3163G>T	c.(3163-3165)Gac>Tac	p.D1055Y	SPTB_ENST00000542895.1_Missense_Mutation_p.D1055Y|SPTB_ENST00000389720.3_Missense_Mutation_p.D1055Y|SPTB_ENST00000389721.5_Missense_Mutation_p.D1055Y|SPTB_ENST00000556626.1_Missense_Mutation_p.D1055Y	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1055					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.D1055Y(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCAGCAAGTCCTCCTGGCCC	0.607000													7	31					0.00448238	0.00465407	1	1	0
OR10S1	219873	broad.mit.edu	37	11	123848164	123848164	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123848164G>A	ENST00000531945.1	-	1	324	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L79F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGAAGGAGAGGTGCCCCAGG	0.557000													71	208					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134278166	134278166	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:134278166T>C	ENST00000337090.3	+	14	2021	c.1848T>C	c.(1846-1848)tcT>tcC	p.S616S	CEP63_ENST00000383229.3_Intron|CEP63_ENST00000513612.2_Silent_p.S616S|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Silent_p.S616S|CEP63_ENST00000332047.5_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	616					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.S616S(2)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTCCTACTCTCTATGTAAAA	0.438000													162	384					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127730885	127730885	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:127730885C>A	ENST00000508053.1	-	15	2135	c.1161G>T	c.(1159-1161)caG>caT	p.Q387H	FBN2_ENST00000508989.1_Missense_Mutation_p.Q354H|FBN2_ENST00000262464.4_Missense_Mutation_p.Q387H			P35556	FBN2_HUMAN	fibrillin 2	387	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.Q387H(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGCAGCACTGCATTTTCG	0.552000													39	73					6.2361e-21	8.68478e-21	1	1	0
FAM13A	10144	broad.mit.edu	37	4	89772323	89772323	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:89772323G>A	ENST00000264344.5	-	7	1062	c.855C>T	c.(853-855)tcC>tcT	p.S285S	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	285					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S285S(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCTCACTCCTGGATTTTGGGA	0.408000													62	196					0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229568343	229568343	+	Silent	SNP	G	G	T	rs121909526		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:229568343G>T	ENST00000366684.3	-	3	516	c.414C>A	c.(412-414)atC>atA	p.I138I	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	138			I -> M (in NEM3; autosomal recessive).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	p.I138I(3)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GCACGGCCTGGATGGCCACGT	0.706000													33	70					1.00001e-27	1.49117e-27	1	1	0
MANSC1	54682	broad.mit.edu	37	12	12491436	12491436	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:12491436G>A	ENST00000535902.1	-	3	845	c.282C>T	c.(280-282)aaC>aaT	p.N94N	MANSC1_ENST00000545735.1_Silent_p.N13N|MANSC1_ENST00000396349.3_Silent_p.N60N			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	94	MANSC.					integral to membrane		p.N94N(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATAGGTAGCAGTTGGGTTGTC	0.393000													48	101					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101704717	101704717	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:101704717C>A	ENST00000305352.6	+	2	552	c.177C>A	c.(175-177)atC>atA	p.I59I	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	59					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.I59I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTGCTTTATCATCCTGGAGA	0.458000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	262					1.52378e-38	2.49794e-38	1	1	0
DGKI	9162	broad.mit.edu	37	7	137151659	137151659	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:137151659C>T	ENST00000453654.1	-	26	2166	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	DGKI_ENST00000424189.2_Missense_Mutation_p.D846N|DGKI_ENST00000288490.5_Splice_Site|DGKI_ENST00000446122.1_Splice_Site			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	833					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	p.?(2)		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						TGAGATCTGTCTATTCGATAA	0.358000													33	105					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763833	77763833	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:77763833A>T	ENST00000521891.2	+	10	5124	c.4676A>T	c.(4675-4677)cAc>cTc	p.H1559L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1533L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1514L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1514L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1514						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H1559L(2)		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)			CTCTTGGTCCACTATAATTCA	0.408000										HNSCC(33;0.089)			71	178					0	0	1	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67243129	67243129	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:67243129C>A	ENST00000282670.2	+	5	660	c.532C>A	c.(532-534)Ctt>Att	p.L178I		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	178								p.L178I(2)|p.L178F(1)		large_intestine(2)|lung(10)|skin(1)	13						TGCAGTTTACCTTGAGTGATT	0.363000													61	158					1.7104e-27	2.54547e-27	1	1	0
DOCK7	85440	broad.mit.edu	37	1	63084481	63084481	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:63084481C>G	ENST00000251157.5	-	14	1611	c.1578G>C	c.(1576-1578)ccG>ccC	p.P526P	DOCK7_ENST00000340370.5_Silent_p.P526P|DOCK7_ENST00000404627.2_Silent_p.P526P	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	526					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.P526P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAAGCAGCTCCGGAGTTAGGC	0.388000													88	279					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964605	119964605	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:119964605G>C	ENST00000543831.1	+	4	730	c.481G>C	c.(481-483)Gct>Cct	p.A161P	HSD3B2_ENST00000369416.3_Missense_Mutation_p.A161P	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	161					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.A161P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CAAAAAGCTTGCTGAGAAGGC	0.502000													28	101					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94134234	94134234	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:94134234G>C	ENST00000243673.2	-	1	351	c.180C>G	c.(178-180)cgC>cgG	p.R60R	GPR83_ENST00000539203.2_Silent_p.R60R	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	60						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R60R(2)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGCGCCGTAGCGCCTCCTGC	0.582000													31	98					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33872331	33872331	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:33872331C>G	ENST00000389232.4	+	13	1493	c.1423C>G	c.(1423-1425)Ctt>Gtt	p.L475V	RYR3_ENST00000415757.3_Missense_Mutation_p.L475V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	475					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L475V(3)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGACAAAATCTTTTCAAGGA	0.443000													17	26					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428122	135428122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:135428122G>T	ENST00000394143.1	+	6	2548	c.2257G>T	c.(2257-2259)Gaa>Taa	p.E753*	GPR112_ENST00000412101.1_Nonsense_Mutation_p.E548*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E548*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E753*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.E690*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	753					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E753*(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAATATGCCTGAATTTAAACT	0.373000													429	190					5.78545e-233	1.17725e-232	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228886442	228886442	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:228886442C>A	ENST00000392056.3	-	6	728	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D228Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	228						cytoplasm	protein binding	p.D228Y(4)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTAGATTCATCCACCTCGCTT	0.443000													27	79					1.08312e-15	1.40049e-15	1	1	0
TENM2	57451	broad.mit.edu	37	5	167645208	167645208	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:167645208C>T	ENST00000519204.1	+	22	4067	c.3949C>T	c.(3949-3951)Ctt>Ttt	p.L1317F	TENM2_ENST00000520394.1_Missense_Mutation_p.L1199F|TENM2_ENST00000518659.1_Missense_Mutation_p.L1438F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1262F|TENM2_ENST00000545108.1_Missense_Mutation_p.L1437F					teneurin transmembrane protein 2									p.L1317F(2)|p.L1438F(2)|p.L1271F(2)									CAATGTCATCCTTCGAATCAC	0.498000													364	540					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62073809	62073809	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:62073809C>A	ENST00000354587.3	-	5	942	c.766G>T	c.(766-768)Ggg>Tgg	p.G256W	KCNQ2_ENST00000360480.3_Missense_Mutation_p.G256W|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G256W|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G256W|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G256W|KCNQ2_ENST00000370222.3_Missense_Mutation_p.G256W|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G256W|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G256W|KCNQ2_ENST00000370221.1_Missense_Mutation_p.G256W|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G256W|KCNQ2_ENST00000344462.3_Missense_Mutation_p.G256W|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G256W			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	256					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G256W(4)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TCGTTCTCCCCCTTCTCTGCC	0.572000													44	143					9.57592e-29	1.44783e-28	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33205041	33205041	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:33205041G>T	ENST00000280979.4	+	11	3495	c.3325G>T	c.(3325-3327)Gaa>Taa	p.E1109*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.E1109*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1109					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.E1109*(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTGAGACAAGAAAAGGAAGG	0.373000													75	228					5.78178e-49	1.01348e-48	1	1	0
DDX53	168400	broad.mit.edu	37	X	23018528	23018528	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:23018528C>T	ENST00000327968.5	+	1	442	c.354C>T	c.(352-354)agC>agT	p.S118S	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	118						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.S118S(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AACAAGAAAGCTACAACTCAG	0.403000													43	52					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38471793	38471793	+	Missense_Mutation	SNP	C	C	A	rs145380938		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:38471793C>A	ENST00000356264.2	-	13	1369	c.1154G>T	c.(1153-1155)tGg>tTg	p.W385L	AMPH_ENST00000325590.5_Missense_Mutation_p.W385L|AMPH_ENST00000428293.2_Missense_Mutation_p.W385L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	385					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.W385L(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCTTACCGTCCATAGGTCCCA	0.323000													58	154					5.71386e-39	9.40742e-39	1	1	0
TMEM150C	441027	broad.mit.edu	37	4	83417293	83417293	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:83417293C>T	ENST00000449862.2	-	6	609	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TMEM150C_ENST00000508701.1_Silent_p.P97P|RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000515780.1_Silent_p.P97P	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	97						integral to membrane		p.P97P(2)		ovary(1)	1						TATTCAGCCACGGGTTTAAAA	0.423000													40	109					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1238077	1238077	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:1238077A>C	ENST00000324642.3	+	5	757	c.634A>C	c.(634-636)Aca>Cca	p.T212P	SLC6A18_ENST00000296821.4_Missense_Mutation_p.T212P	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	212					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATTTACTTCACAGCTTTGTT	0.512000													6	28					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900722	123900722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123900722C>A	ENST00000431524.1	+	1	426	c.393C>A	c.(391-393)taC>taA	p.Y131*		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y131*(2)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CGCTCAGGTACACCAGCATGA	0.542000													214	705					4.32429e-90	8.43736e-90	1	1	0
OR13C8	138802	broad.mit.edu	37	9	107332060	107332060	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:107332060G>T	ENST00000335040.1	+	1	612	c.612G>T	c.(610-612)ctG>ctT	p.L204L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L204L(3)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGTCGAATCTGATTGTTCTGG	0.353000													69	242					1.52223e-32	2.38713e-32	1	1	0
SLC30A8	169026	broad.mit.edu	37	8	118174010	118174010	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:118174010C>A	ENST00000427715.2	+	8	893	c.459C>A	c.(457-459)ggC>ggA	p.G153G	SLC30A8_ENST00000521243.1_Silent_p.G153G|SLC30A8_ENST00000519688.1_Silent_p.G153G|SLC30A8_ENST00000456015.2_Silent_p.G202G	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	202					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.G202G(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GATGCCTTGGCCACAATCACA	0.448000													51	223					5.22555e-25	7.59808e-25	1	1	0
DDI2	84301	broad.mit.edu	37	1	15983175	15983175	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:15983175G>T	ENST00000480945.1	+	9	1417		c.e9+1			NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)						proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CCCAGACCAGGTATTTATAGA	0.468000													63	197					3.09758e-43	5.33122e-43	1	1	0
THOC2	57187	broad.mit.edu	37	X	122755273	122755273	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:122755273G>A	ENST00000245838.8	-	31	3982	c.3951C>T	c.(3949-3951)acC>acT	p.T1317T	THOC2_ENST00000491737.1_Silent_p.T1202T|THOC2_ENST00000355725.4_Silent_p.T1317T	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1317	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.T1317T(2)|p.T1238T(2)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTCTTTCCTTGGTCTCTCTTG	0.413000													259	187					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511222	56511222	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:56511222G>T	ENST00000302957.3	-	1	65	c.66C>A	c.(64-66)acC>acA	p.T22T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T22T(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGTCAGGATGGTGCAATTTC	0.423000													128	334					1.79159e-75	3.41663e-75	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129470172	129470172	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:129470172C>A	ENST00000421865.2	+	7	1007	c.958C>A	c.(958-960)Cag>Aag	p.Q320K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	320	Laminin EGF-like 1.				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	p.Q320K(2)		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)		TAGCTGTGATCAGTGCTGTCC	0.408000													60	211					1.12612e-26	1.65644e-26	1	1	0
STT3A	3703	broad.mit.edu	37	11	125482978	125482978	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:125482978C>G	ENST00000392708.4	+	13	1619	c.1460C>G	c.(1459-1461)tCc>tGc	p.S487C	STT3A_ENST00000529196.1_Missense_Mutation_p.S487C|STT3A_ENST00000531491.1_Missense_Mutation_p.S395C	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	487					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	p.S487C(2)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCTTCTCCGTCCATTGTACTA	0.473000													124	342					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90138748	90138748	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:90138748G>T	ENST00000268138.7	+	7	1911	c.1806G>T	c.(1804-1806)gtG>gtT	p.V602V	TICRR_ENST00000560985.1_Silent_p.V601V					TOPBP1-interacting checkpoint and replication regulator									p.V602V(2)									GTCCGGATGTGGCTGGGGAGA	0.443000													69	127					2.96794e-49	5.22661e-49	1	1	0
SEMA6D	80031	broad.mit.edu	37	15	48057248	48057248	+	Missense_Mutation	SNP	T	T	G	rs147987261		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:48057248T>G	ENST00000316364.5	+	13	1861	c.1422T>G	c.(1420-1422)caT>caG	p.H474Q	SEMA6D_ENST00000354744.4_Missense_Mutation_p.H474Q|SEMA6D_ENST00000536845.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389425.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000558014.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000358066.4_Missense_Mutation_p.H474Q|SEMA6D_ENST00000355997.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000558816.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389428.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389433.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389432.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000537942.1_Missense_Mutation_p.H474Q	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	474	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.H474Q(4)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCTACAACCATGCAAAGTAGG	0.423000													61	107					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105271017	105271017	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:105271017G>C	ENST00000306107.5	+	13	2037	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	ALCAM_ENST00000472644.2_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.E462Q|ALCAM_ENST00000389927.4_Missense_Mutation_p.E235Q	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	513					cell adhesion|signal transduction	integral to membrane	receptor binding	p.E513Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGAGGCAGACGAGATAAGTGG	0.338000													21	57					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886822	23886822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:23886822C>A	ENST00000355349.3	-	31	4405	c.4243G>T	c.(4243-4245)Gag>Tag	p.E1415*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1415					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1415*(2)|p.E1415Q(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGGTCTTCTCCAGCGAGGAG	0.607000													29	68					6.90743e-12	8.34831e-12	1	1	0
AHCY	191	broad.mit.edu	37	20	32878562	32878562	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:32878562G>A	ENST00000538132.1	-	6	1043	c.657C>T	c.(655-657)atC>atT	p.I219I	AHCY_ENST00000217426.2_Silent_p.I247I	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	247					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	p.I247I(2)		endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGTGCGTTGATGGGGTCAA	0.632000													56	119					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22849675	22849675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:22849675G>T	ENST00000400546.1	+	15	2209	c.1960G>T	c.(1960-1962)Gag>Tag	p.E654*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E512*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	654	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.E654*(3)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CATCATTTTGGAGCATCTCCA	0.388000													42	113					2.29192e-23	3.27602e-23	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49432243	49432243	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:49432243G>A	ENST00000301067.7	-	34	8895	c.8896C>T	c.(8896-8898)Cgg>Tgg	p.R2966W		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R2696W(2)|p.R2966W(2)									GACGGGGGCCGGTTGACCAGC	0.602000													16	20					0	0	1	0	0
TMEM143	55260	broad.mit.edu	37	19	48845927	48845927	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:48845927C>T	ENST00000293261.3	-	6	1151	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	TMEM143_ENST00000541566.1_Missense_Mutation_p.A169T|TMEM143_ENST00000436660.2_Missense_Mutation_p.A214T|TMEM143_ENST00000435956.3_Missense_Mutation_p.A244T|TMEM143_ENST00000377431.2_Missense_Mutation_p.A179T	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	279						integral to membrane|mitochondrion		p.A279T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTGAGCAGGGCGCGCTGCAGG	0.642000													61	128					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79784770	79784770	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:79784770C>A	ENST00000372371.3	-	4	586	c.449G>T	c.(448-450)tGc>tTc	p.C150F		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	150					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.C150F(2)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTTCTTCCGGCACTTGTCAGA	0.468000													62	141					3.6896e-23	5.24421e-23	1	1	0
GATA3	2625	broad.mit.edu	37	10	8105983	8105983	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:8105983C>A	ENST00000379328.3	+	4	1374	c.806C>A	c.(805-807)gCa>gAa	p.A269E	GATA3_ENST00000461472.1_Intron|GATA3_ENST00000346208.3_Missense_Mutation_p.A268E	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	268					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.A269E(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AACTGTGGGGCAACCTCGACC	0.552000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						10	52					6.40141e-05	6.87224e-05	1	1	0
MARCO	8685	broad.mit.edu	37	2	119727850	119727850	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:119727850C>A	ENST00000541757.1	+	4	506	c.126C>A	c.(124-126)ctC>ctA	p.L42L	MARCO_ENST00000327097.4_Silent_p.L120L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	120					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.L120L(2)		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						AGGCCCAACTCACCTGGGTCC	0.612000													36	185					1.48646e-12	1.82561e-12	1	1	0
RTP2	344892	broad.mit.edu	37	3	187416442	187416442	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:187416442C>T	ENST00000358241.1	-	2	950	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	174					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.E174E(2)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TGGTCACCTCCTCCTCCAGCA	0.647000													12	56					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101904899	101904899	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:101904899C>T	ENST00000374994.4	+	5	1004	c.887C>T	c.(886-888)aCa>aTa	p.T296I	TGFBR1_ENST00000550253.1_Missense_Mutation_p.T227I|TGFBR1_ENST00000374990.2_Missense_Mutation_p.T219I|TGFBR1_ENST00000552516.1_Missense_Mutation_p.T300I	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	296	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.T296I(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AACAGATACACAGTTACTGTG	0.418000													22	224					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965693	88965693	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:88965693G>T	ENST00000333190.4	+	4	4006	c.3397G>T	c.(3397-3399)Gaa>Taa	p.E1133*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1133						intracellular	zinc ion binding	p.E1133*(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGACGGATTAGAAATGTGTCA	0.363000										HNSCC(36;0.09)			59	150					4.94307e-48	8.60503e-48	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43925996	43925996	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:43925996C>A	ENST00000389420.3	-	3	455	c.456G>T	c.(454-456)acG>acT	p.T152T	ADAMTS20_ENST00000553158.1_Silent_p.T152T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	152				T -> V (in Ref. 2; CAD56159/CAD56160).		proteinaceous extracellular matrix	zinc ion binding	p.T152T(2)|p.V152V(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAAATGTTCCCGTCTGAAAAT	0.353000													157	222					1.75869e-58	3.20106e-58	1	1	0
CPQ	10404	broad.mit.edu	37	8	97797421	97797421	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:97797421G>T	ENST00000220763.5	+	2	506	c.296G>T	c.(295-297)gGg>gTg	p.G99V		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	99					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	p.G99V(2)									CAGCAAGATGGGCTGGAGAAA	0.488000													119	152					3.98262e-75	7.55702e-75	1	1	0
DAW1	164781	broad.mit.edu	37	2	228771916	228771916	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:228771916A>T	ENST00000373666.2	+	10	1557	c.921A>T	c.(919-921)ctA>ctT	p.L307L	DAW1_ENST00000309931.2_Silent_p.L307L|DAW1_ENST00000545118.1_Silent_p.L292L					dynein assembly factor with WDR repeat domains 1									p.L307L(2)									ATGAAATACTAGACAGCTGCT	0.353000													45	314					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55549736	55549736	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:55549736C>A	ENST00000436346.1	-	18	3931	c.3090G>T	c.(3088-3090)tgG>tgT	p.W1030C	AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.W1029C|CCDC88A_ENST00000336838.6_Missense_Mutation_p.W1029C|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.W1030C|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1030					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.W1029C(2)|p.W1030C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTCTCGCTCCCATTTGTTGT	0.328000													240	183					1.84071e-119	3.66693e-119	1	1	0
GPR111	222611	broad.mit.edu	37	6	47646847	47646847	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:47646847C>A	ENST00000398742.2	+	3	293	c.244C>A	c.(244-246)Ctt>Att	p.L82I	GPR111_ENST00000296862.1_Missense_Mutation_p.L150I|GPR111_ENST00000507065.1_Missense_Mutation_p.L82I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L150I(2)|p.L82I(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGCCAGACTCTTAATGCCCT	0.458000													18	148					7.45023e-12	8.99002e-12	1	1	0
RPGR	6103	broad.mit.edu	37	X	38146132	38146132	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:38146132C>G	ENST00000378505.2	-	15	2296	c.2120G>C	c.(2119-2121)gGg>gCg	p.G707A	RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000338898.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	696	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.G707A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ctgctcttccccatccctctt	0.537000													2	0					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62019252	62019252	+	Missense_Mutation	SNP	C	C	T	rs150423825	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:62019252C>T	ENST00000578147.1	-	24	4466	c.4390G>A	c.(4390-4392)Ggg>Agg	p.G1464R	SCN4A_ENST00000435607.1_Missense_Mutation_p.G1464R			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1464					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1464R(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCCTTGGCCCCGCGGATCAGC	0.617000													23	28					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44119289	44119289	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:44119289G>A	ENST00000242248.5	-	4	624	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	POLM_ENST00000335195.6_Missense_Mutation_p.R175C|POLM_ENST00000395831.3_Missense_Mutation_p.R175C	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	175					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.R175C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GTGAGGAGGCGGCCCTCACTG	0.647000								DNA polymerases (catalytic subunits)					3	40					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132693794	132693794	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:132693794G>T	ENST00000367963.3	-	4	734	c.616C>A	c.(616-618)Caa>Aaa	p.Q206K	MOXD1_ENST00000336749.3_Missense_Mutation_p.Q138K	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	206					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.Q206K(2)|p.Q138K(2)		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)		TTAAACATTTGGCACCAATAT	0.348000													55	176					8.27458e-37	1.34197e-36	1	1	0
TTN	7273	broad.mit.edu	37	2	179565924	179565924	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179565924G>T	ENST00000589042.1	-	111	30829	c.30605C>A	c.(30604-30606)cCt>cAt	p.P10202H	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P8958H|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P9885H|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9885	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P8958H(2)		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)			AACCACAGGAGGGATTTCTGA	0.368000													77	191					2.93434e-44	5.06173e-44	1	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24889599	24889599	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:24889599C>A	ENST00000396432.2	-	14	3594	c.3108G>T	c.(3106-3108)caG>caT	p.Q1036H	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.Q823H|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1035	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.Q1035H(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTGCTCTCCTGGATCGTCT	0.443000													25	183					1.04121e-07	1.17252e-07	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296585	28296585	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:28296585G>A	ENST00000284987.5	-	8	2701	c.2580C>T	c.(2578-2580)aaC>aaT	p.N860N	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	860	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.N860N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TAGTGACAGAGTTTACTTTTG	0.483000													58	160					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56078492	56078492	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:56078492C>A	ENST00000429804.2	-	9	2250	c.1690_splice	c.e9+1	p.E564_splice	CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000371196.2_Splice_Site_p.E614_splice|CTCFL_ENST00000243914.3_Splice_Site_p.E614_splice|CTCFL_ENST00000433949.2_Splice_Site_p.G614_splice|CTCFL_ENST00000502686.2_Splice_Site_p.G352_splice|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000423479.2_Splice_Site_p.E614_splice	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	614					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.E614*(2)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAATCAGTACCGTCTCCGTTC	0.512000													88	138					1.81242e-41	3.06376e-41	1	1	0
TM9SF1	10548	broad.mit.edu	37	14	24662175	24662175	+	Missense_Mutation	SNP	G	G	A	rs150301168	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:24662175G>A	ENST00000530611.1	-	7	1306	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	TM9SF1_ENST00000396854.4_Missense_Mutation_p.R216W|TM9SF1_ENST00000528669.1_Missense_Mutation_p.R216W|TM9SF1_ENST00000524835.1_Missense_Mutation_p.R129W|TM9SF1_ENST00000556387.1_Missense_Mutation_p.R425W|TM9SF1_ENST00000261789.4_Missense_Mutation_p.R216W			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	216					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.R216W(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CTGTCACTCCGACGCTCCACT	0.532000													3	27					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924008	188924008	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:188924008G>T	ENST00000326866.4	+	4	455	c.47G>T	c.(46-48)gGc>gTc	p.G16V	ZFP42_ENST00000509524.1_Missense_Mutation_p.G16V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	16					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G16V(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CACCAGAAAGGCCTGGGTGGA	0.547000													28	71					8.88839e-20	1.21774e-19	1	1	0
PCDH20	64881	broad.mit.edu	37	13	61987564	61987564	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:61987564G>T	ENST00000409186.1	-	5	2773	c.668C>A	c.(667-669)cCt>cAt	p.P223H	PCDH20_ENST00000409204.4_Missense_Mutation_p.P223H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	196	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P196H(2)|p.P223H(2)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTGTTTACAGGTGCATTTTC	0.517000													74	125					1.10345e-40	1.84883e-40	1	1	0
TLL1	7092	broad.mit.edu	37	4	166935713	166935713	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:166935713G>T	ENST00000061240.2	+	8	1689		c.e8+1		TLL1_ENST00000513213.1_Splice_Site|TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGATGTCCAGGTATTGCACTA	0.458000													174	463					1.72054e-115	3.40075e-115	1	1	0
TIE1	7075	broad.mit.edu	37	1	43779579	43779579	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:43779579G>T	ENST00000372476.3	+	14	2428	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L	TIE1_ENST00000433781.2_Silent_p.L428L|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	783					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.L783L(3)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTTAACCCTGGTGTGCATCC	0.657000													22	83					6.12954e-19	8.27814e-19	1	1	0
RBM17	84991	broad.mit.edu	37	10	6157491	6157491	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:6157491G>C	ENST00000446108.1	+	12	1822	c.1178G>C	c.(1177-1179)aGg>aCg	p.R393T	RBM17_ENST00000476706.1_3'UTR|RBM17_ENST00000379888.4_Missense_Mutation_p.R393T	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	393					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.R393T(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GACAAATTCAGGGTCTTGGAT	0.408000													53	211					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148964289	148964289	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:148964289G>A	ENST00000434415.1	+	4	812	c.649G>A	c.(649-651)Gga>Aga	p.G217R		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	217					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.G217R(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AGTAGAGGTGGGACGTCCAAG	0.592000													20	45					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2936699	2936699	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:2936699G>T	ENST00000381130.2	+	5	889	c.889G>T	c.(889-891)Gat>Tat	p.D297Y		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	297						integral to membrane	arylsulfatase activity|metal ion binding	p.D297Y(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGAAGAAATGGATTGGATGGT	0.398000													10	12					2.17888e-05	2.36591e-05	1	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254905	30254905	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:30254905C>T	ENST00000361644.2	+	5	1601	c.864C>T	c.(862-864)gtC>gtT	p.V288V	MAGEB3_ENST00000378986.1_Silent_p.V288V	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	288	MAGE.							p.V288V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AGATGAAGGTCCTGGAGTTTT	0.493000													29	37					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17208408	17208408	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:17208408G>T	ENST00000253692.7	-	21	3609	c.1945C>A	c.(1945-1947)Cta>Ata	p.L649I	TBC1D5_ENST00000446818.2_Missense_Mutation_p.L671I|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L649I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	649						intracellular	protein binding|Rab GTPase activator activity	p.L649I(2)		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						GAACCTTTTAGAATGTCTTTG	0.423000													15	27					3.27435e-08	3.69277e-08	1	1	0
SLC1A3	6507	broad.mit.edu	37	5	36686351	36686351	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:36686351G>T	ENST00000265113.4	+	10	2085	c.1609G>T	c.(1609-1611)Gac>Tac	p.D537Y	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.D492Y	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	537					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.D537Y(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GAAACCCATCGACAGTGAAAC	0.363000													99	137					6.71872e-74	1.26853e-73	1	1	0
OR4K14	122740	broad.mit.edu	37	14	20483031	20483031	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:20483031T>C	ENST00000305045.2	-	1	321	c.322A>G	c.(322-324)Act>Gct	p.T108A		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T108A(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCCCACCAGTAAAGTGCAAG	0.463000													50	99					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274539	51274539	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:51274539C>T	ENST00000270590.4	+	1	819	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	228						integral to plasma membrane	N-formyl peptide receptor activity	p.P228S(2)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTTCCTGGGGCCCTTAGCAAT	0.597000													11	28					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15628598	15628598	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:15628598T>A	ENST00000378076.3	-	23	2710	c.2357A>T	c.(2356-2358)cAg>cTg	p.Q786L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	786					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.Q786L(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATTTCCACCTGCGCTACAGC	0.368000													38	215					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66053948	66053948	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:66053948G>T	ENST00000503581.1	-	10	2119	c.1582C>A	c.(1582-1584)Cat>Aat	p.H528N	EYS_ENST00000393380.2_Missense_Mutation_p.H528N|EYS_ENST00000342421.5_Missense_Mutation_p.H528N|EYS_ENST00000370618.3_Missense_Mutation_p.H528N|EYS_ENST00000370621.3_Missense_Mutation_p.H528N|EYS_ENST00000370616.2_Missense_Mutation_p.H528N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	528					response to stimulus|visual perception	extracellular region	calcium ion binding	p.H528N(4)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTGCCTTCATGTGGGAACCAA	0.353000													67	205					1.88935e-48	3.30419e-48	1	1	0
ING3	54556	broad.mit.edu	37	7	120608099	120608099	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:120608099G>C	ENST00000315870.5	+	8	816	c.668G>C	c.(667-669)gGg>gCg	p.G223A	ING3_ENST00000431467.1_Missense_Mutation_p.G208A	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	223					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	p.G223A(2)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACTGGTGCAGGGGCAATTACC	0.433000													24	66					0	0	1	0	0
MIR409	574413	broad.mit.edu	37	14	101531710	101531710	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:101531710G>A	ENST00000362237.1	+	0	74					NR_029975.1																						CCCCTTTTCGGTATCAAATTC	0.592000													19	49					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	382518	382518	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:382518G>T	ENST00000256509.2	+	6	1069	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	CHL1_ENST00000397491.2_Missense_Mutation_p.V143L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	143	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.V143L(2)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCCTCTTGAAGTGGAGGAGGG	0.368000													18	30					5.26018e-13	6.5024e-13	1	1	0
CLIP2	7461	broad.mit.edu	37	7	73768231	73768231	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:73768231G>T	ENST00000223398.6	+	4	1027	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	CLIP2_ENST00000395060.1_Missense_Mutation_p.V234L|CLIP2_ENST00000361545.5_Missense_Mutation_p.V234L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	234						microtubule associated complex		p.V234L(2)|p.V234M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAAGACTGGCGTGGTGCGGTA	0.652000													76	212					4.10057e-40	6.81036e-40	1	1	0
ITPR1	3708	broad.mit.edu	37	3	4718485	4718485	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:4718485G>T	ENST00000354582.6	+	24	3317	c.2967_splice	c.e24+1	p.Q989_splice	ITPR1_ENST00000443694.2_Splice_Site_p.Q974_splice|ITPR1_ENST00000456211.2_Splice_Site_p.Q965_splice|ITPR1_ENST00000302640.8_Splice_Site_p.Q974_splice|ITPR1_ENST00000423119.2_Splice_Site_p.Q980_splice|ITPR1_ENST00000357086.4_Splice_Site_p.Q980_splice|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	989					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.Q965H(2)|p.Q974H(2)|p.Q980H(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGATACTCCAGGTATCCACTA	0.547000													36	47					6.97489e-18	9.27135e-18	1	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961382	73961382	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:73961382T>C	ENST00000373468.1	-	3	3661	c.3010A>G	c.(3010-3012)Agt>Ggt	p.S1004G	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S1004G			Q5QGS0	K2022_HUMAN	KIAA2022	1004					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.S1004G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAATAATTACTTGAGCTGACA	0.473000													46	194					0	0	1	0	0
TBC1D23	55773	broad.mit.edu	37	3	100002603	100002603	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:100002603C>A	ENST00000394144.4	+	4	431	c.424C>A	c.(424-426)Cgc>Agc	p.R142S	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.R142S|TBC1D23_ENST00000475134.1_Intron	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	142	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.R142S(4)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCAACTGCCACGCAGCGATTT	0.338000													57	191					2.40655e-23	3.43341e-23	1	1	0
LBX2	85474	broad.mit.edu	37	2	74725064	74725064	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:74725064A>T	ENST00000460508.3	-	2	1031	c.575T>A	c.(574-576)gTg>gAg	p.V192E	LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000377566.4_Missense_Mutation_p.V196E	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	196						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V192E(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCAATCGTCCACCTGTATCTC	0.667000													2	1					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54304586	54304586	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:54304586T>C	ENST00000324134.6	-	7	2819	c.2651A>G	c.(2650-2652)cAg>cGg	p.Q884R	NLRP12_ENST00000345770.5_Missense_Mutation_p.Q885R|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.Q884R|NLRP12_ENST00000391773.1_Missense_Mutation_p.Q885R|NLRP12_ENST00000391775.3_Missense_Mutation_p.Q884R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	884					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.Q884R(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTCAGGCTCTGGTTCACACT	0.592000													7	16					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119996441	119996441	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:119996441C>A	ENST00000341846.5	-	4	1712	c.1291G>T	c.(1291-1293)Gac>Tac	p.D431Y	TRIM29_ENST00000529044.1_Missense_Mutation_p.D170Y|TRIM29_ENST00000541857.1_Missense_Mutation_p.D164Y	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	431					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D431Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGCTCAGGTCCGCCTTGCAC	0.562000													13	25					1.37285e-15	1.7721e-15	1	1	0
TXLNB	167838	broad.mit.edu	37	6	139583834	139583834	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:139583834G>T	ENST00000358430.3	-	5	996	c.764C>A	c.(763-765)aCg>aAg	p.T255K		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	255						cytoplasm		p.T255K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGGATGTCCGTGAGGGTACT	0.488000													56	131					9.04393e-38	1.47938e-37	1	1	0
OR1D5	8386	broad.mit.edu	37	17	2966144	2966144	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:2966144C>A	ENST00000575751.1	-	1	757	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(4)		kidney(1)|lung(10)	11						AGCAAGCGTCCCATAAAAGAG	0.498000													48	205					6.03219e-31	9.26808e-31	1	1	0
HMCN1	83872	broad.mit.edu	37	1	185959564	185959564	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:185959564G>A	ENST00000271588.4	+	22	3595	c.3366G>A	c.(3364-3366)ccG>ccA	p.P1122P	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.P1122P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1122	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.P1122P(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATCTCACCGTTCTCTCCAA	0.468000													52	105					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661084	162661084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:162661084G>T	ENST00000375514.5	+	4	576	c.289G>T	c.(289-291)Gga>Tga	p.G97*	SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000446997.1_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000535165.1_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000493021.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	86					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.G86*(4)		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						ATTAGAGGATGGAAGGGAGTC	0.378000													20	87					4.63292e-17	6.10484e-17	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176738883	176738883	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:176738883C>T	ENST00000367662.3	+	16	5628	c.4464C>T	c.(4462-4464)cgC>cgT	p.R1488R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1488	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1488R(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTGAAACGCTGCTCAATCT	0.522000													68	631					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216293	55216293	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:55216293C>A	ENST00000340465.2	+	5	699	c.613C>A	c.(613-615)Ctt>Att	p.L205I		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	205						integral to membrane	receptor activity	p.L205I(2)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAAGAAGCTCTTCACAGCAA	0.428000													229	478					6.34537e-87	1.23175e-86	1	1	0
SUPT7L	9913	broad.mit.edu	37	2	27884203	27884203	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:27884203C>A	ENST00000337768.5	-	3	636	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	SUPT7L_ENST00000405491.1_Missense_Mutation_p.D21Y|SUPT7L_ENST00000406540.1_Missense_Mutation_p.D21Y|SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000464789.2_Missense_Mutation_p.D21Y	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	23					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.D23Y(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GGGAGCAAATCGAAGGAACTT	0.507000													72	97					9.46827e-25	1.37408e-24	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3228247	3228247	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:3228247T>A	ENST00000217939.6	-	7	8151	c.7997A>T	c.(7996-7998)cAg>cTg	p.Q2666L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2666	Ig-like C2-type 11.					extracellular region		p.Q2666L(4)		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)				GAAACGTCCCTGCCCAGCCCC	0.592000													15	20					0	0	1	0	0
IGLV1-40	28825	broad.mit.edu	37	22	22764308	22764308	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:22764308C>A	ENST00000390299.2	+	0	101																											CTTCCAGGGTCCTGGGCCCAG	0.617000											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	78					2.12129e-23	3.04935e-23	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885855	88885855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:88885855G>T	ENST00000319675.3	-	1	441	c.345C>A	c.(343-345)taC>taA	p.Y115*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	115								p.Y115*(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTTGTGCGGGTATACCCGGA	0.552000													82	166					9.07295e-45	1.56865e-44	1	1	0
ZNF354A	6940	broad.mit.edu	37	5	178139390	178139390	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:178139390T>A	ENST00000335815.2	-	5	1686	c.1489A>T	c.(1489-1491)Aac>Tac	p.N497Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	497					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N497Y(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CCACACTCGTTACATTTATAG	0.388000													61	92					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156784833	156784833	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:156784833G>T	ENST00000392306.2	-	3	443	c.304C>A	c.(304-306)Cgg>Agg	p.R102R	SH2D2A_ENST00000368199.3_Silent_p.R102R|SH2D2A_ENST00000368198.3_Silent_p.R84R|SH2D2A_ENST00000495306.1_5'UTR	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	102	SH2.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.R102R(4)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTCACCTCCGGGTGATGAAG	0.637000													7	44					1.06961e-07	1.20094e-07	1	1	0
OR6S1	341799	broad.mit.edu	37	14	21108972	21108972	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:21108972A>G	ENST00000320704.3	-	1	878	c.879T>C	c.(877-879)taT>taC	p.Y293Y		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y293Y(2)		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)		TACGTAAGGCATAGATGAATG	0.438000													169	449					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188925302	188925302	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:188925302G>T	ENST00000345063.3	+	2	296	c.129G>T	c.(127-129)agG>agT	p.R43S	TPRG1_ENST00000433971.1_Missense_Mutation_p.R43S	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	43								p.R43S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AGATTTCAAGGCAGTCAAGTG	0.473000													98	289					1.92787e-56	3.49225e-56	1	1	0
SPATS1	221409	broad.mit.edu	37	6	44337843	44337843	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:44337843A>G	ENST00000288390.2	+	6	1098	c.751A>G	c.(751-753)Att>Gtt	p.I251V	SPATS1_ENST00000323108.8_Missense_Mutation_p.I251V			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	251								p.I251V(4)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTCCACAAATTCCCAAGTG	0.343000													44	55					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176556078	176556078	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:176556078T>A	ENST00000280187.7	-	8	860	c.815A>T	c.(814-816)gAg>gTg	p.E272V	GPM6A_ENST00000506894.1_Missense_Mutation_p.E261V|GPM6A_ENST00000393658.2_Missense_Mutation_p.E272V|GPM6A_ENST00000515090.1_Missense_Mutation_p.E265V|GPM6A_ENST00000506219.1_5'UTR	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	272						cell surface|integral to membrane		p.E272V(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATTGAGCCGCTCTTTGGAGCG	0.448000													90	211					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47869180	47869180	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:47869180C>T	ENST00000289672.2	-	44	6628	c.6578G>A	c.(6577-6579)gGt>gAt	p.G2193D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2193					cell-cell adhesion	integral to membrane		p.G2193D(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCAAGCAAAACCCAAGGCCAT	0.498000													32	241					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158531731	158531731	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:158531731C>G	ENST00000251527.5	-	18	2396	c.2331G>C	c.(2329-2331)gtG>gtC	p.V777V	ESYT2_ENST00000435514.2_Silent_p.V212V	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	805						integral to membrane|plasma membrane		p.V777V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CATGCACGACCACGATAAGCT	0.607000													33	130					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33643548	33643548	+	Missense_Mutation	SNP	C	C	A	rs138321976		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:33643548C>A	ENST00000504830.1	-	10	1842	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V503L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	503	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V503L(2)		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						AAGCCCTTCACGGAGCACCAC	0.468000										HNSCC(64;0.19)			128	329					6.4202e-37	1.04345e-36	1	1	0
CPQ	10404	broad.mit.edu	37	8	97892084	97892084	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:97892084A>T	ENST00000220763.5	+	4	910	c.700A>T	c.(700-702)Att>Ttt	p.I234F		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	234					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	p.I234F(2)									AACAGCCTGTATTACGGTGGA	0.453000													356	506					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32962070	32962070	+	Silent	SNP	G	G	T	rs146893987	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:32962070G>T	ENST00000321639.5	+	8	1999	c.1671G>T	c.(1669-1671)acG>acT	p.T557T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	557						integral to membrane		p.T557T(3)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		ACAGCAGCACGCTGGCAGGAC	0.617000													9	24					3.03607e-14	3.83424e-14	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1261227	1261227	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:1261227G>T	ENST00000348261.5	+	22	4531	c.4283G>T	c.(4282-4284)aGg>aTg	p.R1428M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1428M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1428M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1428					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	p.R1428M(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCATCACTCAGGCCCATTGGG	0.597000													8	12					0.000274275	0.000291154	1	1	0
ABCA4	24	broad.mit.edu	37	1	94496568	94496568	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:94496568G>T	ENST00000370225.3	-	28	4323	c.4237C>A	c.(4237-4239)Cag>Aag	p.Q1413K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1413					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q1413K(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAGGTGTACTGCTGCCCATAT	0.552000													13	77					4.3838e-07	4.88591e-07	1	1	0
NDST3	9348	broad.mit.edu	37	4	119064823	119064823	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:119064823C>A	ENST00000296499.5	+	6	1926	c.1523C>A	c.(1522-1524)aCt>aAt	p.T508N	NDST3_ENST00000433996.2_Missense_Mutation_p.T427N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	508	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.T508N(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTTTCTTCACTGTCGTCCTC	0.428000													21	49					3.83957e-06	4.22966e-06	1	1	0
UROC1	131669	broad.mit.edu	37	3	126224636	126224636	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:126224636C>T	ENST00000290868.2	-	8	774	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	UROC1_ENST00000383579.3_Missense_Mutation_p.G241R	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	241					histidine catabolic process	cytosol	urocanate hydratase activity	p.G241R(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AAGACCTTCCCAGCCAAGTCC	0.637000													18	45					0	0	1	0	0
ATP6V0B	533	broad.mit.edu	37	1	44441771	44441771	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:44441771G>A	ENST00000532642.1	+	3	223	c.126G>A	c.(124-126)acG>acA	p.T42T	ATP6V0B_ENST00000236067.4_5'UTR|ATP6V0B_ENST00000498664.1_5'UTR|ATP6V0B_ENST00000472174.2_Silent_p.T42T|ATP6V0B_ENST00000471859.2_Silent_p.T89T|ATP6V0B_ENST00000472277.1_3'UTR			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	42					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	p.T42T(2)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGTTCCTGACGGAGACTTCGC	0.562000													12	100					0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135730460	135730460	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:135730460C>G	ENST00000370629.2	+	1	109	c.53C>G	c.(52-54)cCc>cGc	p.P18R	CD40LG_ENST00000370628.2_Missense_Mutation_p.P18R	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	18					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.P18R(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	ACTGGACTGCCCATCAGCATG	0.423000									Immune Deficiency with Hyper-IgM				298	121					0	0	1	0	0
ALG2	85365	broad.mit.edu	37	9	101980430	101980430	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:101980430G>A	ENST00000476832.1	-	2	1098	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ALG2_ENST00000319033.6_Missense_Mutation_p.S253L	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	346					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.S346L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGGTCCACCCGAATTAACAGC	0.507000													10	57					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82645123	82645123	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:82645123G>T	ENST00000533655.1	+	6	2955	c.2743G>T	c.(2743-2745)Ggt>Tgt	p.G915C	C11orf82_ENST00000329143.3_Missense_Mutation_p.G614C|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.G915C|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	915					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.G915C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AACCAATAAAGGTTTAATTAA	0.343000													13	64					6.72482e-11	7.97522e-11	1	1	0
GPR55	9290	broad.mit.edu	37	2	231775240	231775240	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:231775240C>A	ENST00000392040.1	-	2	630	c.438G>T	c.(436-438)tgG>tgT	p.W146C	GPR55_ENST00000392039.2_Missense_Mutation_p.W146C	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	146					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.W146C(2)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ACACCAGGACCCAGATGGTGC	0.542000													33	54					2.42023e-17	3.20586e-17	1	1	0
WBSCR22	114049	broad.mit.edu	37	7	73101344	73101344	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:73101344G>T	ENST00000265758.2	+	5	339	c.281G>T	c.(280-282)cGa>cTa	p.R94L	WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Missense_Mutation_p.R94L	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	94						nucleus	methyltransferase activity	p.R94L(2)		autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCTGTGGACCGAGAGATAGAG	0.522000													18	55					1.33834e-09	1.53909e-09	1	1	0
VEGFC	7424	broad.mit.edu	37	4	177608608	177608608	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:177608608C>A	ENST00000280193.2	-	6	1293	c.878G>T	c.(877-879)tGt>tTt	p.C293F	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	293	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.C293F(2)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCTGCAGACACACTGACAGGT	0.483000													38	130					2.20474e-14	2.79365e-14	1	1	0
AP3D1	8943	broad.mit.edu	37	19	2127179	2127179	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:2127179G>A	ENST00000355272.6	-	9	1034	c.828C>T	c.(826-828)ctC>ctT	p.L276L	AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000590683.1_Intron|AP3D1_ENST00000356926.4_Silent_p.L185L|AP3D1_ENST00000345016.5_Silent_p.L276L	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	276					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	p.L276L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACATTCATAGAGGAGAGACA	0.602000													11	24					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560197	32560197	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:32560197C>T	ENST00000345122.3	+	2	637	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R108W|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R108W|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R108W|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	108					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.R108S(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTTGCCTCATCGGAGTACGAA	0.383000													47	148					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513259	106513259	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:106513259G>T	ENST00000359195.3	+	4	2473	c.2163G>T	c.(2161-2163)ctG>ctT	p.L721L	PIK3CG_ENST00000496166.1_Silent_p.L721L|PIK3CG_ENST00000440650.2_Silent_p.L721L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	721					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.L721L(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCCTATCTGAGGGGCTGTG	0.453000													39	94					3.61848e-18	4.82676e-18	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100791128	100791128	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:100791128G>T	ENST00000358544.2	+	42	7834	c.7723G>T	c.(7723-7725)Ggg>Tgg	p.G2575W	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G2550W	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2575					protein transport			p.G2550W(2)|p.G2575W(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGCATCTTCGGGCAGATGGC	0.453000													59	201					1.63578e-51	2.90763e-51	1	1	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32122510	32122510	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:32122510G>T	ENST00000422437.1	+	2	330	c.139G>T	c.(139-141)Gac>Tac	p.D47Y	PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000375143.2_Missense_Mutation_p.D47Y|PPT2_ENST00000445576.2_Missense_Mutation_p.D47Y|PPT2_ENST00000324816.6_Missense_Mutation_p.D47Y|PPT2_ENST00000395523.1_Missense_Mutation_p.D47Y|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000375137.2_Missense_Mutation_p.D47Y|PPT2_ENST00000361568.2_Missense_Mutation_p.D53Y														p.D53Y(1)									TGGGCTCTTCGACAGCTCGTA	0.637000													4	49					3.59834e-05	3.89051e-05	1	1	0
AKNA	80709	broad.mit.edu	37	9	117139580	117139580	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:117139580C>A	ENST00000307564.4	-	3	668	c.507G>T	c.(505-507)agG>agT	p.R169S	AKNA_ENST00000312033.3_Missense_Mutation_p.R169S|AKNA_ENST00000374075.5_Missense_Mutation_p.R88S|AKNA_ENST00000374088.3_Missense_Mutation_p.R169S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R169S(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCACCCAGCCCCTGGCCTGAC	0.592000													24	60					1.51926e-22	2.14733e-22	1	1	0
SLC5A12	159963	broad.mit.edu	37	11	26700315	26700315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:26700315C>A	ENST00000396005.3	-	13	1832	c.1523G>T	c.(1522-1524)aGt>aTt	p.S508I		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	508					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.S508I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCCCACTGCACTGTAGTAAAG	0.463000													114	184					2.87069e-51	5.09077e-51	1	1	0
TUBB6	84617	broad.mit.edu	37	18	12325202	12325202	+	Missense_Mutation	SNP	G	G	C	rs148645230	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:12325202G>C	ENST00000591208.1	+	5	363	c.332G>C	c.(331-333)cGc>cCc	p.R111P	TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000317702.5_Silent_p.S138S	NM_032525.1	NP_115914.1	Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	0					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.S138S(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		TCACGCACTCGCTGGGCGGCG	0.657000													10	24					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74902192	74902192	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:74902192C>T	ENST00000370891.2	+	21	2179	c.2163C>T	c.(2161-2163)aaC>aaT	p.N721N	TNNI3K_ENST00000326637.3_Silent_p.N620N|FPGT-TNNI3K_ENST00000370899.3_Silent_p.N721N|FPGT-TNNI3K_ENST00000557284.1_Silent_p.N721N	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase									p.N620N(2)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						ATGAAGACAACATGACAAAAC	0.358000													19	71					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721475	198721475	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:198721475G>T	ENST00000367376.2	+	30	3470	c.3299G>T	c.(3298-3300)cGt>cTt	p.R1100L	PTPRC_ENST00000348564.6_Missense_Mutation_p.R941L|PTPRC_ENST00000442510.2_Missense_Mutation_p.R1102L|PTPRC_ENST00000594404.1_Missense_Mutation_p.R939L|PTPRC_ENST00000352140.3_Missense_Mutation_p.R1052L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1100	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1100L(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TATACCCTTCGTGTCTTTGAA	0.358000													82	303					1.59803e-59	2.92265e-59	1	1	0
PZP	5858	broad.mit.edu	37	12	9302192	9302192	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:9302192G>T	ENST00000261336.2	-	35	4419	c.4391C>A	c.(4390-4392)tCt>tAt	p.S1464Y	PZP_ENST00000381997.2_Missense_Mutation_p.S1250Y	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.S1250Y(2)|p.S1464Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGCAACCACAGACTCATCTGA	0.463000													81	147					2.43056e-48	4.24091e-48	1	1	0
TRBV7-8	28590	broad.mit.edu	37	7	142099485	142099485	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:142099485G>T	ENST00000390359.3	-	0	355																											ATACACGGCGGAGTCCTCCTG	0.557000													75	274					5.86298e-51	1.0373e-50	1	1	0
MEGF10	84466	broad.mit.edu	37	5	126774191	126774191	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:126774191C>A	ENST00000274473.6	+	18	2432	c.2165C>A	c.(2164-2166)gCt>gAt	p.A722D	MEGF10_ENST00000503335.2_Missense_Mutation_p.A722D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	722	EGF-like 13.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.A722D(2)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CATAATGGAGCTTTCTGCAGC	0.532000													90	168					4.58075e-42	7.77804e-42	1	1	0
BAZ2B	29994	broad.mit.edu	37	2	160229615	160229615	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:160229615C>G	ENST00000392783.2	-	27	4649	c.4154G>C	c.(4153-4155)cGg>cCg	p.R1385P	BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1349P|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1285P|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1351P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R1385P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AATCCAGTACCGGCGTCTGTA	0.428000													48	218					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433781	179433781	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179433781A>C	ENST00000589042.1	-	326	77302	c.77078T>G	c.(77077-77079)aTt>aGt	p.I25693S	TTN_ENST00000342992.6_Missense_Mutation_p.I23125S|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I16820S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I16753S|TTN_ENST00000460472.2_Missense_Mutation_p.I16628S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I24052S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24052	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I23123S(2)|p.I23125S(2)|p.I16628S(2)|p.I16753S(2)|p.I16820S(2)		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)			TGCAACCTTAATTGGATCAGC	0.443000													74	182					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36563472	36563472	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:36563472C>A	ENST00000397799.1	-	4	2034	c.1810G>T	c.(1810-1812)Ggc>Tgc	p.G604C	COL8A2_ENST00000303143.4_Missense_Mutation_p.G604C|COL8A2_ENST00000481785.1_Missense_Mutation_p.G539C			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	604	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	p.G604C(2)		NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGTTGTAGCCGCTGTGGCCA	0.622000													7	6					0.00621372	0.00639053	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110863998	110863998	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:110863998A>T	ENST00000375820.4	-	8	585	c.464T>A	c.(463-465)aTg>aAg	p.M155K	COL4A1_ENST00000543140.1_Missense_Mutation_p.M155K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	155					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.M155K(2)		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)			ATGTACCTTCATCCCTGGTAA	0.313000													26	53					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15829246	15829246	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:15829246G>T	ENST00000338282.6	-	26	3589	c.3483C>A	c.(3481-3483)agC>agA	p.S1161R	MYH11_ENST00000576790.1_Missense_Mutation_p.S1161R|MYH11_ENST00000452625.2_Missense_Mutation_p.S1168R|MYH11_ENST00000396324.3_Missense_Mutation_p.S1168R|MYH11_ENST00000300036.5_Missense_Mutation_p.S1161R	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1161					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.S1168R(2)|p.S1161R(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAGTGGCTGTGCTGTCCAGTG	0.602000			T	CBFB	AML								28	108					3.68427e-32	5.74201e-32	1	1	0
ABCC11	85320	broad.mit.edu	37	16	48218375	48218375	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:48218375G>T	ENST00000394747.1	-	22	3583	c.3234C>A	c.(3232-3234)gtC>gtA	p.V1078V	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Silent_p.V1078V|ABCC11_ENST00000394748.1_Silent_p.V1078V|ABCC11_ENST00000353782.5_Silent_p.V1078V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1078	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V1078V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGACAGCCATGACTTTAAAGG	0.562000													138	226					6.15512e-72	1.15637e-71	1	1	0
DAB1	1600	broad.mit.edu	37	1	57611099	57611099	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:57611099T>A	ENST00000371236.2	-	3	334	c.71A>T	c.(70-72)cAg>cTg	p.Q24L	DAB1_ENST00000371234.4_Missense_Mutation_p.Q24L|DAB1_ENST00000371230.1_Missense_Mutation_p.Q24L|DAB1_ENST00000439789.2_Missense_Mutation_p.Q24L|DAB1_ENST00000371231.1_Missense_Mutation_p.Q24L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.Q24L|DAB1_ENST00000414851.2_Missense_Mutation_p.Q24L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	24					cell differentiation|nervous system development			p.Q24L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACTGCGATCCTGACCTAAAAA	0.458000													43	135					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67108500	67108500	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:67108500C>A	ENST00000371037.4	+	6	313	c.236C>A	c.(235-237)cCt>cAt	p.P79H	SGIP1_ENST00000371035.3_Missense_Mutation_p.P36H|SGIP1_ENST00000371036.3_Missense_Mutation_p.P54H|SGIP1_ENST00000371039.1_Missense_Mutation_p.P55H|SGIP1_ENST00000237247.6_Missense_Mutation_p.P83H|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	79					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.P79H(2)|p.P55H(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAGAACTCACCTGAGCTGGAT	0.328000													47	126					1.07363e-35	1.7228e-35	1	1	0
DPEP3	64180	broad.mit.edu	37	16	68010643	68010643	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:68010643C>T	ENST00000268793.4	-	8	1502	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	352					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.E377K(2)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCGATGAACTCAGATCCAATG	0.562000													5	11					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859297	189859297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:189859297G>T	ENST00000304636.3	+	19	1494	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.E442*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	442	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.E442*(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGCCAAAGGAGAGCCCGGACC	0.398000													32	97					2.13384e-23	3.06159e-23	1	1	0
HECW1	23072	broad.mit.edu	37	7	43436451	43436451	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:43436451A>G	ENST00000395891.1	+	7	1199	c.594A>G	c.(592-594)ggA>ggG	p.G198G	HECW1_ENST00000453890.1_Silent_p.G198G|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	198	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.G177G(2)|p.G198G(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCGTCCAAGGACAAGGAAGTC	0.423000													29	215					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	95					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347339	91347339	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:91347339G>A	ENST00000358859.2	-	1	1614	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1									p.P394L(2)									GGATTCCTGTGGCACTTTGGG	0.408000													14	26					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128061	117128061	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:117128061G>C	ENST00000310357.3	-	3	828	c.807C>G	c.(805-807)gcC>gcG	p.A269A	GPRC6A_ENST00000368549.3_Silent_p.A269A|GPRC6A_ENST00000530250.1_Silent_p.A269A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	269					response to amino acid stimulus		G-protein coupled receptor activity	p.A269A(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CATTAACCTGGGCTTCTAAAA	0.363000													67	118					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750371	234750371	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:234750371C>A	ENST00000411486.2	-	8	1120	c.1055G>T	c.(1054-1056)gGt>gTt	p.G352V	HJURP_ENST00000432087.1_Missense_Mutation_p.G298V|HJURP_ENST00000441687.1_Missense_Mutation_p.G267V	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	352					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.G352F(2)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CAATTTTAAACCTGTCTTACG	0.433000													6	54					0.0215528	0.0218697	1	1	0
MYH2	4620	broad.mit.edu	37	17	10432233	10432233	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:10432233C>A	ENST00000245503.5	-	27	3902	c.3518G>T	c.(3517-3519)cGg>cTg	p.R1173L	MYH2_ENST00000397183.2_Missense_Mutation_p.R1173L|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1173					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1173L(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCAGCCTCCCGCTTCTTGTT	0.597000													39	71					1.51943e-15	1.95465e-15	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5294629	5294629	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:5294629G>T	ENST00000546004.1	-	2	633	c.387C>A	c.(385-387)gcC>gcA	p.A129A	PROKR2_ENST00000217270.3_Silent_p.A129A			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	129						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A129A(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						AGTTGACGGAGGCACAGAGCA	0.607000										HNSCC(71;0.22)			16	33					1.99824e-07	2.23696e-07	1	1	0
DDX42	11325	broad.mit.edu	37	17	61864590	61864590	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:61864590A>C	ENST00000578681.1	+	3	782	c.181A>C	c.(181-183)Aaa>Caa	p.K61Q	DDX42_ENST00000457800.2_Missense_Mutation_p.K61Q|DDX42_ENST00000389924.2_Missense_Mutation_p.K61Q|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.K61Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	61					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.K61Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCTTTCTACAAAATTGGATC	0.448000													18	55					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160146346	160146346	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:160146346T>A	ENST00000368081.4	+	17	3015	c.2544T>A	c.(2542-2544)gaT>gaA	p.D848E	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	848					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.D848E(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAAGACGGATAATCTGGTGA	0.567000													59	130					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110584388	110584388	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:110584388A>T	ENST00000369795.3	+	8	812	c.790A>T	c.(790-792)Atc>Ttc	p.I264F	STRIP1_ENST00000369796.1_Missense_Mutation_p.I169F	NM_033088.2	NP_149079.2			striatin interacting protein 1									p.I264F(2)									GCCATTTGCCATCATGCTGTT	0.532000													36	146					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15470780	15470780	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:15470780T>A	ENST00000281513.5	-	36	4314	c.4289A>T	c.(4288-4290)cAg>cTg	p.Q1430L	NBAS_ENST00000441750.1_Missense_Mutation_p.Q1310L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1430								p.Q1430L(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGACGGCCTGCAGCACCGC	0.493000													115	183					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364128	43364128	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:43364128G>A	ENST00000344686.2	-	0	927							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.P274P(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAGGTTTCCAGGGCTGGAGAG	0.622000													5	14					0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101089990	101089990	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:101089990C>A	ENST00000376865.1	+	3	179	c.172C>A	c.(172-174)Cgc>Agc	p.R58S		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	58					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.R58S(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						ACCTCTTTCTCGCCAACCTAA	0.338000													16	31					8.00594e-06	8.76841e-06	1	1	0
DYTN	391475	broad.mit.edu	37	2	207528121	207528121	+	Splice_Site	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:207528121T>A	ENST00000452335.2	-	11	1257		c.e11-2			NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin							plasma membrane	zinc ion binding	p.?(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CAACCTTGCCTGGGGAAACAA	0.378000													23	46					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487640	131487640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:131487640G>T	ENST00000309926.4	+	1	998	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	306						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E306*(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGCTAACAGTGAGGTACTCAT	0.597000													17	99					1.33834e-09	1.53909e-09	1	1	0
MUC17	140453	broad.mit.edu	37	7	100678561	100678561	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100678561G>T	ENST00000306151.4	+	3	3928	c.3864G>T	c.(3862-3864)acG>acT	p.T1288T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1288	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1288T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCTGGTGACCA	0.473000													160	514					1.34453e-103	2.63016e-103	1	1	0
MUC17	140453	broad.mit.edu	37	7	100675547	100675547	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100675547G>A	ENST00000306151.4	+	3	914	c.850G>A	c.(850-852)Gtg>Atg	p.V284M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	284	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.V284M(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCTCTCAGCGTGATGCTGGT	0.507000													102	606					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267441	107267441	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:107267441G>T	ENST00000334726.2	+	1	987	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A300S(2)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGAAAGTGGCCTTGAAAAA	0.358000													4	43					0.150653	0.151251	1	1	0
DYSF	8291	broad.mit.edu	37	2	71827833	71827833	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:71827833G>T	ENST00000258104.3	+	34	3981	c.3702_splice	c.e34-1	p.G1235_splice	DYSF_ENST00000410020.3_Splice_Site_p.G1253_splice|DYSF_ENST00000409651.1_Splice_Site_p.G1267_splice|DYSF_ENST00000413539.2_Splice_Site_p.G1266_splice|DYSF_ENST00000409582.3_Splice_Site_p.G1252_splice|DYSF_ENST00000394120.2_Splice_Site_p.G1236_splice|DYSF_ENST00000409762.1_Splice_Site_p.G1252_splice|DYSF_ENST00000429174.2_Splice_Site_p.G1235_splice|DYSF_ENST00000410041.1_Splice_Site_p.G1253_splice|DYSF_ENST00000409366.1_Splice_Site_p.G1236_splice|DYSF_ENST00000409744.1_Splice_Site_p.G1222_splice|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1235	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.G1235V(2)|p.G1253V(2)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTGGTCTAGGGTGCAGACGAG	0.577000													36	97					2.77807e-22	3.91198e-22	1	1	0
ACTN2	88	broad.mit.edu	37	1	236907995	236907995	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:236907995G>T	ENST00000366578.4	+	12	1491	c.1325G>T	c.(1324-1326)cGg>cTg	p.R442L	ACTN2_ENST00000542672.1_Missense_Mutation_p.R442L|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	442					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.R442L(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTCTGCTGCGGAAGCACGAG	0.592000													27	81					1.06801e-11	1.28263e-11	1	1	0
BBOX1	8424	broad.mit.edu	37	11	27147256	27147256	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:27147256A>T	ENST00000263182.3	+	8	1260	c.892A>T	c.(892-894)Aca>Tca	p.T298S	BBOX1_ENST00000529202.1_Missense_Mutation_p.T298S|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.T298S|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.T298S	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	298					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.T298S(2)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	aactagggacacaatatttga	0.348000													8	19					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587961	247587961	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:247587961T>C	ENST00000366497.2	+	4	1996	c.1216T>C	c.(1216-1218)Ttc>Ctc	p.F406L	NLRP3_ENST00000391827.2_Missense_Mutation_p.F406L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.F406L|NLRP3_ENST00000336119.3_Missense_Mutation_p.F406L|NLRP3_ENST00000348069.2_Missense_Mutation_p.F406L|NLRP3_ENST00000366496.2_Missense_Mutation_p.F406L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	406	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.F406L(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGAGGTCCTCTTCACCATGTG	0.532000													86	205					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4164474	4164474	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:4164474C>T	ENST00000294016.3	-	2	1508	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	324					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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.E324K(2)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTTCCACTTCCAGGTCCTTC	0.522000													12	25					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39314400	39314400	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:39314400C>A	ENST00000381897.1	-	11	1488	c.1355G>T	c.(1354-1356)cGt>cTt	p.R452L	RFC1_ENST00000349703.2_Missense_Mutation_p.R452L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	452	BRCT.				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.R452L(2)|p.R452H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCACTATCACGACCCATGAC	0.453000													637	1729					1.45522e-70	2.72719e-70	1	1	0
TOX2	84969	broad.mit.edu	37	20	42635213	42635213	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:42635213C>A	ENST00000358131.5	+	3	427	c.219C>A	c.(217-219)aaC>aaA	p.N73K	TOX2_ENST00000341197.3_Missense_Mutation_p.N64K|TOX2_ENST00000372999.1_Missense_Mutation_p.N22K|TOX2_ENST00000423191.1_Missense_Mutation_p.N22K	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.N73K(2)|p.N22K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGAGAACAACGAAGACTATG	0.557000													36	256					9.84934e-19	1.32079e-18	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20801733	20801733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:20801733G>T	ENST00000359062.3	+	13	2717	c.2677G>T	c.(2677-2679)Gaa>Taa	p.E893*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	893	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E893*(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGACCATGTGGAATTTAAGCA	0.403000													54	91					4.17328e-34	6.66847e-34	1	1	0
CPXM2	119587	broad.mit.edu	37	10	125528162	125528162	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:125528162C>A	ENST00000241305.3	-	9	1333	c.1179G>T	c.(1177-1179)gtG>gtT	p.V393V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	393					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.V393V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACACGAACTGCACCAGCAGCA	0.627000													149	241					4.45741e-77	8.54337e-77	1	1	0
IGHD	3495	broad.mit.edu	37	14	106311889	106311889	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:106311889G>A	ENST00000390556.2	-	0	121																											CCATGTACCAGGTGACAGTCA	0.562000													18	67					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42799619	42799619	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:42799619C>A	ENST00000310232.6	-	2	302	c.219G>T	c.(217-219)aaG>aaT	p.K73N	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	73								p.K73N(2)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCATTTACCTCTTCTCAAAGC	0.488000													32	39					1.45844e-13	1.82364e-13	1	1	0
HNF4G	3174	broad.mit.edu	37	8	76452274	76452274	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:76452274C>A	ENST00000396423.2	+	1	171	c.47C>A	c.(46-48)aCt>aAt	p.T16N	HNF4G_ENST00000354370.1_Intron	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	0					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.T16N(2)		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)			ACTTACACAACTTTGGAGTTT	0.343000													63	249					1.94393e-27	2.88737e-27	1	1	0
RELN	5649	broad.mit.edu	37	7	103275876	103275876	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:103275876G>T	ENST00000424685.2	-	19	2620	c.2461C>A	c.(2461-2463)Ccc>Acc	p.P821T	RELN_ENST00000343529.5_Missense_Mutation_p.P821T|RELN_ENST00000428762.1_Missense_Mutation_p.P821T			P78509	RELN_HUMAN	reelin	821					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	p.P821T(2)		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)		ACATACCTGGGCTCATGATAG	0.368000													29	89					9.04072e-19	1.21665e-18	1	1	0
SLC8A3	6547	broad.mit.edu	37	14	70515594	70515594	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:70515594C>G	ENST00000381269.2	-	7	3050	c.2297G>C	c.(2296-2298)gGc>gCc	p.G766A	SLC8A3_ENST00000357887.3_Missense_Mutation_p.G764A|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G764A|SLC8A3_ENST00000533541.1_Missense_Mutation_p.G123A|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G760A|SLC8A3_ENST00000216568.7_Missense_Mutation_p.G137A|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G763A|SLC8A3_ENST00000394330.2_Missense_Mutation_p.G123A	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	766					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G766A(2)|p.G764A(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTGAGCATGCCAATGATGAG	0.572000													23	50					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44449622	44449622	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:44449622C>A	ENST00000360029.3	-	1	1202	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	307						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D307Y(2)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATCTTGTCGTCGCGGTACTGG	0.632000										HNSCC(17;0.042)			2	6					0.004672	0.00483772	1	1	0
ZEB2	9839	broad.mit.edu	37	2	145274897	145274897	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:145274897C>A	ENST00000558170.2	-	2	1205	c.21G>T	c.(19-21)gcG>gcT	p.A7A	ZEB2_ENST00000539609.3_Silent_p.A7A|ZEB2_ENST00000465070.1_Silent_p.A7A|ZEB2_ENST00000470879.1_Silent_p.A7A|ZEB2_ENST00000303660.4_Silent_p.A7A|ZEB2_ENST00000462355.1_Silent_p.A7A|ZEB2_ENST00000409487.3_Silent_p.A7A|ZEB2_ENST00000493689.1_5'UTR	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	7						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.A7A(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGGGCCATCCGCCATGATCG	0.587000													5	28					0.000602214	0.000636603	1	1	0
TRBV7-3	28595	broad.mit.edu	37	7	142247121	142247121	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:142247121G>T	ENST00000390361.3	-	0	384																											TAAGCTGCTGGCACAGAGATA	0.537000													53	180					5.73332e-34	9.12282e-34	1	1	0
CHI3L2	1117	broad.mit.edu	37	1	111778693	111778693	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:111778693G>T	ENST00000445067.2	+	9	1424	c.653G>T	c.(652-654)tGg>tTg	p.W218L	CHI3L2_ENST00000369748.4_Missense_Mutation_p.W218L|CHI3L2_ENST00000524472.1_Missense_Mutation_p.W139L|CHI3L2_ENST00000466741.1_Missense_Mutation_p.W139L|CHI3L2_ENST00000369744.2_Missense_Mutation_p.W208L			Q15782	CH3L2_HUMAN	chitinase 3-like 2	218					chitin catabolic process	extracellular space	cation binding|chitinase activity	p.W218L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CATGGGTCTTGGGAAAAGCCC	0.512000													41	140					4.18559e-23	5.93806e-23	1	1	0
CYP26B1	56603	broad.mit.edu	37	2	72374759	72374759	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:72374759C>A	ENST00000001146.2	-	1	408		c.e1+1		CYP26B1_ENST00000546307.1_Splice_Site	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1						cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.?(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGCGCCCTTACCTGCAGCAGC	0.736000													4	2					0.00024832	0.000264341	1	1	0
CNGA2	1260	broad.mit.edu	37	X	150912077	150912077	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:150912077G>A	ENST00000329903.4	+	6	1135	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	368					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.V368M(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCACCATCGTGGGAAATGT	0.507000													209	90					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121220515	121220515	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:121220515G>A	ENST00000297848.3	+	11	1506	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L	COL14A1_ENST00000537875.1_Silent_p.L412L|COL14A1_ENST00000309791.4_Silent_p.L412L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.L317L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	412	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.L412L(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGAAAAACTTGATGTCTTTAA	0.388000													38	62					0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211085421	211085421	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:211085421C>G	ENST00000233710.3	-	2	410	c.183G>C	c.(181-183)cgG>cgC	p.R61R	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	61					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	p.R61R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TTACACTTTTCCGGAAAATGT	0.383000													4	21					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123170627	123170627	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:123170627C>A	ENST00000349780.4	-	31	4903	c.4724G>T	c.(4723-4725)aGa>aTa	p.R1575I	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1575I|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1534I|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1543I	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1575					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.R1575I(2)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAGTACCTCTCAGTCTCCT	0.562000													40	345					2.40228e-13	2.98906e-13	1	1	0
RNF32	140545	broad.mit.edu	37	7	156469174	156469174	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:156469174G>A	ENST00000405335.1	+	10	1323	c.914G>A	c.(913-915)gGt>gAt	p.G305D	RNF32_ENST00000317955.5_Missense_Mutation_p.G305D|RNF32_ENST00000343665.4_Missense_Mutation_p.G281D|RNF32_ENST00000432459.2_Missense_Mutation_p.G305D|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000311822.8_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.G305D			Q9H0A6	RNF32_HUMAN	ring finger protein 32	305						aggresome|endosome	protein binding|zinc ion binding	p.G305D(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCTGCTGGCGGTCAGCGCGTG	0.657000													8	54					0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152759841	152759841	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:152759841C>T	ENST00000368770.3	+	2	119	c.66C>T	c.(64-66)ccC>ccT	p.P22P	LCE1E_ENST00000368771.1_Silent_p.P22P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	22	Cys-rich.				keratinization			p.P22P(2)		lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgccctcccaagtgTCCCA	0.622000													60	161					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47032551	47032551	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:47032551G>T	ENST00000377604.3	+	5	1199	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	RBM10_ENST00000329236.7_Missense_Mutation_p.G76C|RBM10_ENST00000345781.6_Missense_Mutation_p.G76C|RBM10_ENST00000468791.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	153	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.G153C(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCAGTCGCACGGCGTGCAAGC	0.607000													29	42					9.04072e-19	1.21665e-18	1	1	0
ZAN	7455	broad.mit.edu	37	7	100373326	100373326	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100373326C>A	ENST00000542585.1	+	0	6208				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.Q2021K(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCGCCATCTCCCAGATCCCTG	0.537000													4	44					5.18039e-06	5.69018e-06	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54586108	54586108	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:54586108C>A	ENST00000545554.1	+	10	3834	c.3834C>A	c.(3832-3834)tcC>tcA	p.S1278S	UNC13C_ENST00000260323.11_Silent_p.S1278S|UNC13C_ENST00000537900.1_Silent_p.S1276S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1278	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S1278S(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCATAACTCCACAGATCGAA	0.323000													35	61					7.53189e-24	1.08476e-23	1	1	0
LOC643711	643711	broad.mit.edu	37	12	98126388	98126388	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:98126388G>T	ENST00000550548.1	-	0	382					NR_077240.1																						TTCTCTCCTTGGGTGTTCCTC	0.478000													46	49					8.99859e-20	1.23062e-19	1	1	0
HOXC6	3223	broad.mit.edu	37	12	54423739	54423739	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:54423739A>C	ENST00000394331.3	+	3	2165	c.455A>C	c.(454-456)aAa>aCa	p.K152T	HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.K234T|HOXC4_ENST00000303406.4_Intron	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	234					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.K234T(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAGAAGCAGAAAGAGTGACCA	0.582000													2	3					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207543	58207543	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:58207543C>A	ENST00000302572.2	-	1	103	c.82G>T	c.(82-84)Gtc>Ttc	p.V28F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V28F(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAAGGAAGACTATGAAGAGT	0.468000													126	384					1.17562e-51	2.09953e-51	1	1	0
ATP2A1	487	broad.mit.edu	37	16	28906166	28906166	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:28906166C>A	ENST00000395503.4	+	12	1495	c.1311C>A	c.(1309-1311)gtC>gtA	p.V437V	ATP2A1_ENST00000536376.1_Silent_p.V312V|ATP2A1_ENST00000357084.3_Silent_p.V437V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	437					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.V437V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATGAGAAGGTCGGCGAGGCCA	0.572000													8	40					0.000157383	0.000168008	1	1	0
SLC22A16	85413	broad.mit.edu	37	6	110757068	110757068	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:110757068G>T	ENST00000368919.3	-	6	1474	c.1408C>A	c.(1408-1410)Cca>Aca	p.P470T	SLC22A16_ENST00000330550.4_Missense_Mutation_p.P436T|SLC22A16_ENST00000439654.1_Missense_Mutation_p.P470T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	470					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.P470T(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACAATGGTTGGATACAGCTCA	0.373000													70	168					1.16018e-38	1.90601e-38	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140985421	140985421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:140985421C>A	ENST00000544766.1	+	5	1510	c.983C>A	c.(982-984)tCa>tAa	p.S328*	MAGEC3_ENST00000443323.2_Nonsense_Mutation_p.S248*|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.S328*|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.S328*|MAGEC3_ENST00000298296.1_Missense_Mutation_p.Q579K	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	44	MAGE 1.		A -> T (in dbSNP:rs176026).					p.Q579K(2)|p.S328*(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCCATTCAGAGGCCAGC	0.473000													108	59					1.62317e-47	2.81919e-47	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91131866	91131866	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:91131866G>T	ENST00000373094.1	+	2	1472	c.627G>T	c.(625-627)agG>agT	p.R209S	PCDH11X_ENST00000298274.8_Missense_Mutation_p.R209S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R209S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R209S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R209S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	209	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.R209S(6)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTTAGATAGGGAAGAGAAGG	0.403000													312	135					3.57644e-174	7.20032e-174	1	1	0
TMC1	117531	broad.mit.edu	37	9	75387409	75387409	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:75387409G>A	ENST00000297784.5	+	13	1362	c.822G>A	c.(820-822)ccG>ccA	p.P274P	TMC1_ENST00000396237.3_Silent_p.P274P|TMC1_ENST00000340019.3_Silent_p.P274P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	274					sensory perception of sound	integral to membrane		p.P274P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGGTTGCCGCTCTCCTATT	0.383000													303	869					0	0	1	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206927	142206927	+	RNA	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:142206927A>G	ENST00000426318.2	-	0	84																											CACAGCAGACAAAGGGCCACA	0.552000													31	111					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806131	1806131	+	Missense_Mutation	SNP	T	T	C	rs17881656	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:1806131T>C	ENST00000340107.4	+	9	1412	c.1156T>C	c.(1156-1158)Ttc>Ctc	p.F386L	FGFR3_ENST00000260795.2_Missense_Mutation_p.F384L|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.F384L|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.F384L	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	384					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.F384L(2)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGTGGGCTTCTTCCTGTTCAT	0.652000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				3	22					0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56536304	56536304	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:56536304C>A	ENST00000245157.5	-	9	1425	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.Q335H	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	335					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.Q335H(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GGATCAGGTCCTGCTCTGCAC	0.522000									Bardet-Biedl syndrome				147	448					3.74121e-53	6.69713e-53	1	1	0
SELP	6403	broad.mit.edu	37	1	169566297	169566297	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:169566297A>T	ENST00000263686.6	-	11	1860	c.1823T>A	c.(1822-1824)cTg>cAg	p.L608Q	SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.L546Q|SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.L546Q|SELP_ENST00000367794.2_Missense_Mutation_p.L546Q|SELP_ENST00000367786.2_Missense_Mutation_p.L546Q	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	608	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.L608Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGGCCCCTCCAGCTTAAAGCC	0.483000													21	192					0	0	1	0	0
NUTM2A-AS1	728190	broad.mit.edu	37	10	88975783	88975783	+	RNA	SNP	C	C	T	rs28533204	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:88975783C>T	ENST00000451940.2	-	0	600																											CGCGGTCAGGCTGAGGCTAGC	0.597000													6	61					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901354	51901354	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:51901354G>T	ENST00000268919.4	+	1	1116	c.960G>T	c.(958-960)acG>acT	p.T320T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	320	Kinesin-motor.			T -> K (in Ref. 2; BAB71406).	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T320T(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTCAGGAACGGCCCAAGATT	0.522000													67	169					1.15074e-40	1.92381e-40	1	1	0
C1orf56	54964	broad.mit.edu	37	1	151020974	151020974	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:151020974C>A	ENST00000368926.5	+	1	759	c.651C>A	c.(649-651)acC>acA	p.T217T		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	217						extracellular region		p.T217T(2)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTCGGGCACCATGAGCCGGA	0.677000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	62					4.16121e-05	4.48631e-05	1	1	0
BAZ2B	29994	broad.mit.edu	37	2	160294973	160294973	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:160294973C>A	ENST00000392783.2	-	8	1629	c.1134G>T	c.(1132-1134)acG>acT	p.T378T	BAZ2B_ENST00000392782.1_Silent_p.T376T|BAZ2B_ENST00000343439.5_Silent_p.T376T|BAZ2B_ENST00000355831.2_Silent_p.T378T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.T378T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACACCAATCCCGTAGACTGTA	0.408000													24	143					4.43304e-23	6.27738e-23	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56369712	56369712	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:56369712C>A	ENST00000301295.6	+	3	1375	c.953C>A	c.(952-954)cCg>cAg	p.P318Q	NLRP4_ENST00000346986.5_Missense_Mutation_p.P318Q|NLRP4_ENST00000587891.1_Missense_Mutation_p.P243Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	318	NACHT.						ATP binding	p.P318Q(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCAAAGACCCGAAAAGAGCC	0.483000													36	39					3.33393e-15	4.28165e-15	1	1	0
FRMD3	257019	broad.mit.edu	37	9	85905627	85905627	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:85905627C>G	ENST00000304195.3	-	13	1292	c.1086G>C	c.(1084-1086)caG>caC	p.Q362H	FRMD3_ENST00000376434.1_Missense_Mutation_p.Q168H|FRMD3_ENST00000376438.1_Missense_Mutation_p.Q362H	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	362						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.Q362H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AACTGCGGCTCTGAGTAATGT	0.527000													38	104					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590641	136590641	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:136590641C>A	ENST00000531224.1	-	9	2405	c.2153G>T	c.(2152-2154)aGt>aTt	p.S718I	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S716I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S718I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S716I|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S716I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S545I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	718					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S718I(2)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTGATCCACTGGATTCCCT	0.403000													18	104					2.89027e-11	3.45467e-11	1	1	0
NCAPG2	54892	broad.mit.edu	37	7	158494630	158494630	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:158494630C>A	ENST00000409339.3	-	2	75		c.e2-1		NCAPG2_ENST00000356309.3_Splice_Site|NCAPG2_ENST00000409423.1_Splice_Site|NCAPG2_ENST00000449727.2_Splice_Site			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2						cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TTTTGTAACCCTAATGGAAAA	0.358000													7	15					0.00198382	0.00207114	1	1	0
CXCL6	6372	broad.mit.edu	37	4	74702735	74702735	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:74702735C>T	ENST00000226317.5	+	2	418	c.164C>T	c.(163-165)aCg>aTg	p.T55M	CXCL6_ENST00000515050.1_Missense_Mutation_p.T55M	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	55					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	p.T55M(2)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTACGCGTTACGCTGAGAGTA	0.527000													43	116					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32525054	32525054	+	Missense_Mutation	SNP	G	G	A	rs148623159		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:32525054G>A	ENST00000286827.3	-	20	3737	c.3266C>T	c.(3265-3267)aCg>aTg	p.T1089M	TIAM1_ENST00000541036.1_Missense_Mutation_p.T1029M	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1089	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.T1089M(6)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TACCATTTCCGTTAAATTTCC	0.333000													24	109					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153995618	153995618	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:153995618C>T	ENST00000368559.3	-	31	4349	c.4278G>A	c.(4276-4278)caG>caA	p.Q1426Q	NUP210L_ENST00000271854.3_Silent_p.Q1426Q|NUP210L_ENST00000368553.1_Silent_p.Q359Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1426						integral to membrane		p.Q1426Q(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCAGATAAAGCTGGGTATTGT	0.408000													36	124					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683947	100683947	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100683947A>G	ENST00000306151.4	+	3	9314	c.9250A>G	c.(9250-9252)Agt>Ggt	p.S3084G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3084	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3084G(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACTGAAGTCAGTTCATCTCC	0.507000													89	368					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179567349	179567349	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179567349C>A	ENST00000589042.1	-	107	30489	c.30265G>T	c.(30265-30267)Gtg>Ttg	p.V10089L	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V8845L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V9772L|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9772	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V8845L(2)		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)			TGCTCACTCACCACGATGTTC	0.403000													88	196					6.65942e-36	1.07087e-35	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121652315	121652315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:121652315C>A	ENST00000393386.2	+	12	3626	c.3215C>A	c.(3214-3216)cCc>cAc	p.P1072H	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1072					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P1072H(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACAGTCATGCCCAACATGTAT	0.388000													90	196					2.70572e-37	4.40696e-37	1	1	0
TIGD4	201798	broad.mit.edu	37	4	153692094	153692094	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:153692094T>C	ENST00000304337.2	-	2	883	c.63A>G	c.(61-63)ctA>ctG	p.L21L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	21	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.L21L(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CCTCAATGGATAGGCTTTTCT	0.388000													45	101					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15430314	15430314	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:15430314A>T	ENST00000342526.3	-	8	973	c.804T>A	c.(802-804)ttT>ttA	p.F268L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	268					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.F268L(2)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TGATTGGTTCAAATGTATTAA	0.289000													8	65					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57611039	57611039	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:57611039G>T	ENST00000371236.2	-	3	394	c.131C>A	c.(130-132)gCc>gAc	p.A44D	DAB1_ENST00000371234.4_Missense_Mutation_p.A44D|DAB1_ENST00000371230.1_Missense_Mutation_p.A44D|DAB1_ENST00000439789.2_Missense_Mutation_p.A44D|DAB1_ENST00000371231.1_Missense_Mutation_p.A44D|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.A44D|DAB1_ENST00000414851.2_Missense_Mutation_p.A44D			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	44	PID.				cell differentiation|nervous system development			p.A44D(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GATCAATTTGGCTTTGTACCG	0.418000													55	146					3.00467e-41	5.06788e-41	1	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735298	55735298	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55735298G>A	ENST00000312345.2	-	1	692	c.642C>T	c.(640-642)tcC>tcT	p.S214S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S214S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCAAAATGTTGGAGATAATTT	0.393000													18	73					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605833	58605833	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:58605833G>T	ENST00000287275.1	-	3	477	c.87C>A	c.(85-87)ggC>ggA	p.G29G	GLYATL2_ENST00000532258.1_Silent_p.G29G|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	29						mitochondrion	glycine N-acyltransferase activity	p.G29G(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGAAAATGGCGCCATATACCT	0.418000													24	79					7.92952e-12	9.53805e-12	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					8	93					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399760	90399760	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:90399760T>G	ENST00000337338.5	+	3	1540	c.1133T>G	c.(1132-1134)tTt>tGt	p.F378C	LRRC8D_ENST00000394593.3_Missense_Mutation_p.F378C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	378						integral to membrane	protein binding	p.F378C(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTTTATGGCTTTATCTGCCTC	0.368000													38	258					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626742	49626742	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:49626742C>A	ENST00000371571.4	-	2	419	c.134G>T	c.(133-135)cGg>cTg	p.R45L	KCNG1_ENST00000396017.3_Missense_Mutation_p.R45L	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	45						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R45L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGGCCGCAGCCGCTGCGCCCG	0.706000													8	5					0.0581538	0.0588516	1	1	0
HPS3	84343	broad.mit.edu	37	3	148863150	148863150	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:148863150C>G	ENST00000296051.2	+	5	1120	c.980C>G	c.(979-981)aCa>aGa	p.T327R	HPS3_ENST00000460120.1_Missense_Mutation_p.T162R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	327						cytoplasm		p.T327R(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGTTCTCTTACATCTGATGGA	0.343000									Hermansky-Pudlak syndrome				26	108					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43980795	43980795	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:43980795A>G	ENST00000282406.4	+	25	3801	c.3691A>G	c.(3691-3693)Aga>Gga	p.R1231G		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1231	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding	p.R1231G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGAGACTGATAGAGAAAAGTT	0.308000													27	143					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145657761	145657761	+	Silent	SNP	G	G	A	rs34599999	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:145657761G>A	ENST00000409379.3	-	23	3671	c.3642C>T	c.(3640-3642)ccC>ccT	p.P1214P		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1214					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	p.P1214P(1)|p.P1055P(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGGTGCCGGCGGGCAGGCTCT	0.647000													3	18					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737419	157737419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:157737419C>T	ENST00000469986.1	-	1	145	c.5G>A	c.(4-6)tGg>tAg	p.W2*	FCRL2_ENST00000392274.3_Intron|FCRL2_ENST00000361516.3_Intron|FCRL2_ENST00000368181.4_Intron			Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	0					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTCCATTCCCACATTCCCAC	0.443000													92	397					0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27062220	27062220	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:27062220C>A	ENST00000480456.1	+	3	726	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	JAM2_ENST00000400532.1_Missense_Mutation_p.S59Y|JAM2_ENST00000425221.2_Intron|JAM2_ENST00000312957.5_Missense_Mutation_p.S59Y	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	59	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.S59Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACTGTTTCCTCCAGATTAGAG	0.403000													41	97					2.24722e-20	3.10681e-20	1	1	0
HOXA5	3202	broad.mit.edu	37	7	27181480	27181480	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:27181480C>A	ENST00000222726.3	-	2	847	c.787G>T	c.(787-789)Gcg>Tcg	p.A263S	HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'UTR|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	263					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A263S(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CCTCCTGCCGCGGCCATGCTC	0.468000											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	33					0.00829132	0.00851571	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76023009	76023009	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:76023009C>A	ENST00000393004.2	-	5	2760	c.2539G>T	c.(2539-2541)Gtg>Ttg	p.V847L	FILIP1_ENST00000370020.1_Missense_Mutation_p.V748L|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.V847L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	847								p.V847L(2)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GATCTTTCCACGGGTTTCTTC	0.453000													143	356					4.19481e-77	8.06042e-77	1	1	0
SLC16A1	6566	broad.mit.edu	37	1	113456702	113456702	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:113456702G>A	ENST00000538576.1	-	5	2145	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	SLC16A1_ENST00000369626.3_Silent_p.F438F	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	438					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.F438F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CCATGCCAATGAAGAGATAGA	0.398000													53	125					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21355423	21355423	+	Splice_Site	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:21355423A>C	ENST00000256958.2	+	10	1231		c.e10-1			NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTTTTTTCTAGGAGTCATAA	0.269000													13	21					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102378993	102378993	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:102378993T>G	ENST00000376131.4	-	4	686	c.591A>C	c.(589-591)ccA>ccC	p.P197P	FGF14_ENST00000376143.4_Silent_p.P192P	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	192					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.P192P(2)|p.P197P(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATGAGCTGCTGGTTTGGTTT	0.363000													28	75					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26721658	26721658	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:26721658C>G	ENST00000380573.3	-	2	1852	c.829G>C	c.(829-831)Gtg>Ctg	p.V277L	ADRA1A_ENST00000380581.2_Missense_Mutation_p.V277L|ADRA1A_ENST00000358857.5_Missense_Mutation_p.V277L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V277L|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V277L|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V277L|ADRA1A_ENST00000380587.1_Missense_Mutation_p.V277L|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V277L|ADRA1A_ENST00000519229.1_Missense_Mutation_p.V277L|ADRA1A_ENST00000380572.3_Missense_Mutation_p.V277L			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	277					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.V277L(10)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CAGCCGACCACGATGCCCAGC	0.572000													4	18					0	0	1	0	0
FAM21EP	100421577	broad.mit.edu	37	10	51821252	51821252	+	RNA	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:51821252C>T	ENST00000456967.1	-	0	1382					NR_038275.1																						TCATCCTCATCATCAAAGAGC	0.557000													36	61					0	0	1	0	0
EMD	2010	broad.mit.edu	37	X	153609287	153609287	+	Silent	SNP	G	G	A	rs151074632	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:153609287G>A	ENST00000369842.4	+	6	783	c.495G>A	c.(493-495)acG>acA	p.T165T	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Silent_p.T130T	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	165	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	p.T165T(1)		lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGAGCATCACGCACTACCGCC	0.587000													2	5					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908255	103908255	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:103908255C>A	ENST00000302259.3	+	1	948	c.705C>A	c.(703-705)ccC>ccA	p.P235P	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	235					proteolysis		aspartic-type endopeptidase activity	p.P235P(6)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AAGAGGCCCCCGAGAGTTTTG	0.478000													21	86					3.65163e-15	4.68173e-15	1	1	0
TRMT1L	81627	broad.mit.edu	37	1	185106753	185106753	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:185106753C>G	ENST00000367504.3	-	10	1769	c.1030G>C	c.(1030-1032)Ggt>Cgt	p.G344R	TRMT1L_ENST00000367506.5_Missense_Mutation_p.G500R			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	500						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	p.G500R(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCATATTACCATCCTTCTGA	0.348000													25	267					0	0	1	0	0
SNORD115-42	100033816	broad.mit.edu	37	15	25492500	25492500	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:25492500G>T	ENST00000364273.1	+	0	9					NR_003357.1																						TTGGGTCGATGATGAGAACCT	0.512000													35	97					1.5731e-28	2.36902e-28	1	1	0
MYH6	4624	broad.mit.edu	37	14	23866764	23866764	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:23866764C>A	ENST00000405093.3	-	16	2020	c.1950G>T	c.(1948-1950)tcG>tcT	p.S650S	MYH6_ENST00000356287.3_Silent_p.S650S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	650	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.S650S(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTGGAGAGCCGACACCGTCT	0.542000													33	64					4.14481e-20	5.68881e-20	1	1	0
USO1	8615	broad.mit.edu	37	4	76714849	76714849	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:76714849G>T	ENST00000538159.1	+	13	1253	c.1253G>T	c.(1252-1254)gGt>gTt	p.G418V	USO1_ENST00000514213.2_Missense_Mutation_p.G401V			O60763	USO1_HUMAN	USO1 vesicle transport factor	416	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	p.G418V(2)|p.G344V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTAGCAACAGGTAATTCAGTT	0.368000													4	20					1.23904e-05	1.34732e-05	1	1	0
LRP1B	53353	broad.mit.edu	37	2	142567892	142567892	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:142567892C>T	ENST00000389484.3	-	2	1132	c.161G>A	c.(160-162)gGg>gAg	p.G54E	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	54	LDL-receptor class A 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G54E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCAGGGTCCCCATCACACAG	0.443000										TSP Lung(27;0.18)			23	130					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171509600	171509600	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:171509600C>A	ENST00000334231.6	+	35	4022	c.4022C>A	c.(4021-4023)tCc>tAc	p.S1341Y	MYO3B_ENST00000602629.1_3'UTR|AC007277.3_ENST00000428156.1_RNA|MYO3B_ENST00000409044.3_Missense_Mutation_p.S1305Y|MYO3B_ENST00000408978.4_Missense_Mutation_p.S1332Y			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1332					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.S1332Y(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTTTCTTCATCCTCAAAAGGA	0.418000													28	185					1.7881e-09	2.0501e-09	1	1	0
DRD5	1816	broad.mit.edu	37	4	9784629	9784629	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:9784629C>A	ENST00000304374.2	+	1	1372	c.976C>A	c.(976-978)Ccc>Acc	p.P326T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	326					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.P326T(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGTGGACACCCCGAAGGCCC	0.587000													32	71					1.58521e-26	2.32722e-26	1	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138768597	138768597	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:138768597G>A	ENST00000242351.5	-	3	942	c.626C>T	c.(625-627)cCc>cTc	p.P209L	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P209L|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P209L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	209					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.P209L(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GACCACGTCGGGGTTCAGCCC	0.547000													36	128					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857151	90857151	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:90857151A>T	ENST00000394980.1	+	7	2639	c.2320A>T	c.(2320-2322)Aca>Tca	p.T774S	MMRN1_ENST00000508372.1_Missense_Mutation_p.T516S|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.T774S			Q13201	MMRN1_HUMAN	multimerin 1	774					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.T774S(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AACTATTTTGACATTTATTCC	0.353000													39	90					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886823	23886823	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:23886823C>A	ENST00000355349.3	-	31	4404	c.4242G>T	c.(4240-4242)ctG>ctT	p.L1414L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1414			L -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1415*(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGTCTTCTCCAGCGAGGAGC	0.612000													29	67					6.84511e-11	8.10521e-11	1	1	0
LY9	4063	broad.mit.edu	37	1	160784485	160784485	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:160784485C>A	ENST00000368040.1	+	0	1056				LY9_ENST00000368035.1_De_novo_Start_OutOfFrame|LY9_ENST00000368041.2_Missense_Mutation_p.H296N|LY9_ENST00000341032.4_Missense_Mutation_p.H336N|LY9_ENST00000263285.5_Missense_Mutation_p.H336N			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.H336N(2)		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)			CGGCCCCTACCATGCCTACGT	0.572000													51	95					1.53582e-20	2.13106e-20	1	1	0
FMNL3	91010	broad.mit.edu	37	12	50045837	50045837	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:50045837C>G	ENST00000335154.5	-	14	1715	c.1482G>C	c.(1480-1482)ctG>ctC	p.L494L	FMNL3_ENST00000293590.5_Silent_p.L494L|FMNL3_ENST00000550488.1_Silent_p.L494L|FMNL3_ENST00000352151.5_Silent_p.L443L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	494					actin cytoskeleton organization		actin binding|Rho GTPase binding	p.L494L(4)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGCCCTCACTCAGCTCTGCAG	0.652000													13	11					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62304305	62304305	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:62304305C>A	ENST00000261517.5	-	12	957		c.e12+1		VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization			p.?(4)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTATTACTTACTGTATTGATA	0.244000													15	28					2.4624e-09	2.8147e-09	1	1	0
DHX30	22907	broad.mit.edu	37	3	47882439	47882439	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:47882439G>T	ENST00000446256.2	+	8	894	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	DHX30_ENST00000348968.4_Missense_Mutation_p.G119C|DHX30_ENST00000445061.1_Missense_Mutation_p.G147C|DHX30_ENST00000457607.1_Missense_Mutation_p.G175C	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	147	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.G147C(2)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGATCGCTTTGGCTCCCCTGC	0.602000													6	7					1.6384e-10	1.91905e-10	1	1	0
SPPL2C	162540	broad.mit.edu	37	17	43922293	43922293	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:43922293C>T	ENST00000329196.5	+	1	38	c.21C>T	c.(19-21)ctC>ctT	p.L7L	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	7						integral to membrane	aspartic-type endopeptidase activity	p.L7L(2)									TGGGCTTCCTCCTCCCCGTGG	0.627000													20	62					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192299	132192299	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:132192299C>A	ENST00000359827.3	-	2	2116	c.1154G>T	c.(1153-1155)tGg>tTg	p.W385L	PLXNA4_ENST00000378539.5_Missense_Mutation_p.W385L|PLXNA4_ENST00000423507.2_Missense_Mutation_p.W385L|PLXNA4_ENST00000321063.4_Missense_Mutation_p.W385L			Q9HCM2	PLXA4_HUMAN	plexin A4	385	Sema.					integral to membrane|intracellular|plasma membrane		p.W385L(8)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACCTTGAGCCAGGCCAGGTC	0.602000													32	95					2.38352e-08	2.69611e-08	1	1	0
TRPV4	59341	broad.mit.edu	37	12	110232179	110232179	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:110232179C>A	ENST00000418703.2	-	7	1540	c.1446G>T	c.(1444-1446)atG>atT	p.M482I	TRPV4_ENST00000536838.1_Missense_Mutation_p.M448I|TRPV4_ENST00000537083.1_Missense_Mutation_p.M422I|TRPV4_ENST00000392719.2_Missense_Mutation_p.M435I|TRPV4_ENST00000541794.1_Missense_Mutation_p.M435I|TRPV4_ENST00000544971.1_Missense_Mutation_p.M375I|TRPV4_ENST00000346520.2_Missense_Mutation_p.M422I|TRPV4_ENST00000261740.2_Missense_Mutation_p.M482I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	482					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.M482I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGAAGATGACCATGGCACACA	0.632000													66	44					1.77791e-30	2.72064e-30	1	1	0
TIGD2	166815	broad.mit.edu	37	4	90034726	90034726	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:90034726G>T	ENST00000317005.2	+	1	759	c.601G>T	c.(601-603)Ggg>Tgg	p.G201W		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	201	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.G201W(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAGTACTTCTGGGTGTAGGTC	0.408000													17	49					4.63292e-17	6.10484e-17	1	1	0
CES5A	221223	broad.mit.edu	37	16	55880525	55880525	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:55880525G>T	ENST00000521992.1	-	14	1798	c.1653C>A	c.(1651-1653)gaC>gaA	p.D551E	CES5A_ENST00000520435.1_Missense_Mutation_p.D492E|CES5A_ENST00000319165.9_Missense_Mutation_p.D472E|CES5A_ENST00000518005.1_Missense_Mutation_p.D416E|CES5A_ENST00000290567.9_Missense_Mutation_p.D522E|CES5A_ENST00000541580.1_5'UTR	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	522						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.D551E(2)|p.D472E(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCATGTTCAAGTCCAGCTGGA	0.537000													576	869					8.26545e-216	1.67293e-215	1	1	0
ASIC1	41	broad.mit.edu	37	12	50472204	50472204	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:50472204C>A	ENST00000228468.4	+	6	1223	c.837_splice	c.e6-1	p.L280_splice	ASIC1_ENST00000447966.2_Splice_Site_p.L280_splice|ASIC1_ENST00000552438.1_Splice_Site_p.L314_splice	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	280					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.L280I(2)								Amiloride(DB00594)	CTCCCAGCAGCTCATCTACCT	0.582000													23	32					3.01185e-09	3.43242e-09	1	1	0
ROCK1	6093	broad.mit.edu	37	18	18622649	18622649	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:18622649T>C	ENST00000399799.1	-	7	1637	c.697A>G	c.(697-699)Aca>Gca	p.T233A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	233	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.T233A(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CCAACCGCTGTATCACATCGT	0.378000													65	162					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746032	37746032	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:37746032A>T	ENST00000539465.1	+	16	4596	c.4003A>T	c.(4003-4005)Agc>Tgc	p.S1335C	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1335C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1335						cytoskeleton|cytosol|plasma membrane		p.S1335C(2)		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)		GGACCAGTGCAGCTGTCAGTT	0.577000													29	153					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378101	138378101	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:138378101T>G	ENST00000356818.2	+	4	2294	c.1745T>G	c.(1744-1746)cTc>cGc	p.L582R	PPP1R26_ENST00000401470.3_Missense_Mutation_p.L582R|PPP1R26_ENST00000605286.1_Missense_Mutation_p.L582R|PPP1R26_ENST00000605660.1_Missense_Mutation_p.L582R|PPP1R26_ENST00000604351.1_Missense_Mutation_p.L582R|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	582						nucleolus	protein binding	p.L582R(2)									AAGACCCCTCTCTCTAAAACA	0.612000													7	10					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053457	238053457	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:238053457G>T	ENST00000366570.4	-	2	353	c.195C>A	c.(193-195)caC>caA	p.H65Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	65					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.H65Q(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTGCAGCTCGTGCAGCAGCC	0.552000													31	81					4.3181e-19	5.87354e-19	1	1	0
C1orf52	148423	broad.mit.edu	37	1	85725280	85725280	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:85725280C>A	ENST00000471115.1	-	1	45	c.37G>T	c.(37-39)Gcg>Tcg	p.A13S	C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.A13S	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	13								p.A13S(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCGTATGCCGCAAAATAGCTC	0.652000											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	2					1	1	1	1	0
OR5H1	26341	broad.mit.edu	37	3	97851886	97851886	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:97851886G>T	ENST00000354565.2	+	1	345	c.345G>T	c.(343-345)ttG>ttT	p.L115F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L115F(2)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTTTTCTCTTGGCAACGATGG	0.383000													203	589					6.70374e-117	1.33197e-116	1	1	0
IGFLR1	79713	broad.mit.edu	37	19	36230498	36230498	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:36230498A>G	ENST00000592537.1	-	5	851	c.751T>C	c.(751-753)Tct>Cct	p.S251P	AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000344990.3_Missense_Mutation_p.S63P|IGFLR1_ENST00000588992.1_Missense_Mutation_p.S83P|IGFLR1_ENST00000592889.1_Missense_Mutation_p.S63P|IGFLR1_ENST00000246532.1_Missense_Mutation_p.S251P			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	251						integral to membrane|plasma membrane	protein binding|receptor activity	p.S251P(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AGGAGGCGAGACAGGGGTTGT	0.627000													11	15					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873373	91873373	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:91873373C>A	ENST00000373094.1	+	7	4323	c.3478C>A	c.(3478-3480)Cat>Aat	p.H1160N	PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1123N|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1123N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1142N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1150N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1152N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1160					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.H1160N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCTCTGGATCATTCCAGCTC	0.542000													129	71					1.66253e-42	2.82928e-42	1	1	0
LINGO1	84894	broad.mit.edu	37	15	77907260	77907260	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:77907260G>T	ENST00000355300.6	-	2	1163	c.989C>A	c.(988-990)gCc>gAc	p.A330D	LINGO1_ENST00000561030.1_Missense_Mutation_p.A324D	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	330					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		p.A324D(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCCGCGGAAGGCATAGGGCTC	0.617000													7	11					3.09899e-07	3.45901e-07	1	1	0
SUCO	51430	broad.mit.edu	37	1	172558355	172558355	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:172558355G>T	ENST00000367723.3	+	17	2694	c.2570G>T	c.(2569-2571)aGt>aTt	p.S857I	SUCO_ENST00000263688.3_Missense_Mutation_p.S705I	NM_016227.2	NP_057311.2			SUN domain containing ossification factor									p.S705I(2)|p.S857I(2)									TTAAGTAGTAGTATGCACCAG	0.388000													181	281					1.20597e-116	2.38991e-116	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73253977	73253977	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:73253977G>T	ENST00000377110.2	-	11	1823	c.1581_splice	c.e11+1	p.T527_splice	TRPM3_ENST00000357533.2_Splice_Site_p.T529_splice|TRPM3_ENST00000408909.2_Splice_Site_p.T374_splice|TRPM3_ENST00000396280.5_Splice_Site_p.T374_splice|TRPM3_ENST00000360823.2_Splice_Site_p.T399_splice|TRPM3_ENST00000423814.3_Splice_Site_p.T554_splice|TRPM3_ENST00000358082.3_Splice_Site_p.T399_splice|TRPM3_ENST00000377111.2_Splice_Site_p.T527_splice|TRPM3_ENST00000377105.1_Splice_Site_p.T374_splice|TRPM3_ENST00000396285.1_Splice_Site_p.T374_splice|TRPM3_ENST00000377106.1_Splice_Site_p.T399_splice|TRPM3_ENST00000396292.4_Splice_Site_p.T399_splice	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	552						integral to membrane	calcium channel activity	p.T529K(1)|p.T399K(1)|p.T527K(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGGCCCTACCGTATTGTACAA	0.418000													43	178					2.61675e-31	4.04504e-31	1	1	0
DGKI	9162	broad.mit.edu	37	7	137172361	137172361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:137172361G>A	ENST00000453654.1	-	23	2016	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	DGKI_ENST00000424189.2_Nonsense_Mutation_p.Q796*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.Q793*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.Q775*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	793	DAGKc.				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	p.Q793*(4)|p.Q793E(2)		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						CTCACCTCCTGTAGGCGGTCT	0.388000													92	379					0	0	1	0	0
SSU72	29101	broad.mit.edu	37	1	1500240	1500240	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:1500240C>T	ENST00000359060.4	-	2	163	c.137G>A	c.(136-138)gGa>gAa	p.G46E	SSU72_ENST00000291386.3_Missense_Mutation_p.G46E			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	46					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	p.G46E(2)		large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGGAGCTGGTCCTGGAAGCTT	0.458000													4	48					0	0	1	0	0
TRADD	8717	broad.mit.edu	37	16	67190465	67190465	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:67190465C>A	ENST00000345057.4	-	2	567	c.99G>T	c.(97-99)gcG>gcT	p.A33A	TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	33					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	p.A33A(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCTGGGGGTGCGCGTAGGCAT	0.632000											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	32					0.00010058	0.000107825	1	1	0
PMEPA1	56937	broad.mit.edu	37	20	56227123	56227123	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:56227123C>T	ENST00000341744.3	-	4	1169	c.850G>A	c.(850-852)Gga>Aga	p.G284R	PMEPA1_ENST00000265626.4_Missense_Mutation_p.G234R|PMEPA1_ENST00000347215.4_Missense_Mutation_p.G249R|PMEPA1_ENST00000395816.3_Missense_Mutation_p.G234R|PMEPA1_ENST00000395814.1_Missense_Mutation_p.G234R	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	284					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	p.G284R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGAGGGTGTCCTTTCTGTTTA	0.627000													2	2					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284406	118284406	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:118284406C>A	ENST00000402510.2	-	1	136	c.137G>T	c.(136-138)tGt>tTt	p.C46F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	46								p.C46F(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACAACTGCAACAGCCTTGGGA	0.572000													44	30					1.42923e-14	1.81402e-14	1	1	0
GPR31	2853	broad.mit.edu	37	6	167571250	167571250	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:167571250C>G	ENST00000366834.1	-	1	567	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	24						integral to plasma membrane	G-protein coupled receptor activity	p.E24Q(2)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGCCCACACTCCAGCCCCAGC	0.657000													22	40					0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137715045	137715045	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:137715045C>G	ENST00000315930.6	-	5	1365	c.704G>C	c.(703-705)gGa>gCa	p.G235A	FGF13_ENST00000541469.1_Missense_Mutation_p.G189A|FGF13_ENST00000441825.2_Missense_Mutation_p.G216A|FGF13_ENST00000370603.3_Missense_Mutation_p.G245A|FGF13_ENST00000305414.4_Missense_Mutation_p.G182A	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	235					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.G182A(2)|p.G235A(2)|p.G245A(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGATTTGCCTCCGTTCAGCAC	0.527000													366	191					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648571	169648571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:169648571G>A	ENST00000366787.3	-	4	799	c.550C>T	c.(550-552)Cag>Tag	p.Q184*		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	184	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.Q184*(2)		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)		TTTTCCGCCTGCAGGTGCTCG	0.617000													52	108					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48504417	48504417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:48504417G>T	ENST00000417961.1	+	16	1948	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*	SLC9A8_ENST00000361573.2_Nonsense_Mutation_p.E564*|SLC9A8_ENST00000539601.1_Nonsense_Mutation_p.E345*|SLC9A8_ENST00000541138.1_Nonsense_Mutation_p.E264*|SLC9A8_ENST00000490250.1_3'UTR	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	564						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	p.E564*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CAAGTGGTACGAGGAGGTACG	0.657000													52	69					5.73332e-34	9.12282e-34	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22154978	22154978	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:22154978G>T	ENST00000397126.4	-	4	3006	c.2858C>A	c.(2857-2859)gCc>gAc	p.A953D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.A853D(4)|p.A953D(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGACTTATAGGCTTTGCCACA	0.368000													11	21					9.70103e-10	1.12585e-09	1	1	0
BAI3	577	broad.mit.edu	37	6	69759227	69759227	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:69759227G>T	ENST00000370598.1	+	15	3143	c.2322G>T	c.(2320-2322)ttG>ttT	p.L774F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	774					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L774F(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCTAATTTTGCCCACTTTGA	0.289000													24	73					2.46105e-21	3.44003e-21	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118468880	118468880	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:118468880G>T	ENST00000311085.8	+	11	1449	c.1369G>T	c.(1369-1371)Ggc>Tgc	p.G457C	DMXL1_ENST00000539542.1_Missense_Mutation_p.G457C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	457								p.G457C(2)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAAGGAATTAGGCTGTGATAA	0.343000													62	100					3.37043e-27	4.98666e-27	1	1	0
PPFIA2	8499	broad.mit.edu	37	12	81676789	81676789	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:81676789C>A	ENST00000550584.2	-	25	3313	c.3018_splice	c.e25+1	p.Q1006_splice	PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000549396.1_Splice_Site_p.Q1006_splice|PPFIA2_ENST00000550359.2_Splice_Site_p.Q853_splice|PPFIA2_ENST00000407050.4_Splice_Site_p.Q911_splice|PPFIA2_ENST00000548586.1_Splice_Site_p.Q1006_splice|PPFIA2_ENST00000549325.1_Splice_Site_p.Q991_splice|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000552948.1_Splice_Site_p.Q985_splice|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Splice_Site_p.Q907_splice|PPFIA2_ENST00000333447.7_Splice_Site_p.Q991_splice	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	910								p.Q1006H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AATCTCCTACCTGGGCCCAGC	0.318000													41	42					7.02699e-11	8.30761e-11	1	1	0
B3GALT1	8708	broad.mit.edu	37	2	168726315	168726315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:168726315C>A	ENST00000305861.1	+	2	1117	c.766C>A	c.(766-768)Ctc>Atc	p.L256I	AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.L256I|AC016723.4_ENST00000430546.1_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	256					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.L256I(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAAGACCTCACTCCACACAAG	0.488000													69	172					3.54697e-40	5.90384e-40	1	1	0
CHST9	83539	broad.mit.edu	37	18	24604116	24604116	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:24604116C>T	ENST00000284224.8	-	4	443	c.166G>A	c.(166-168)Gga>Aga	p.G56R	AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.G56R|CHST9_ENST00000580774.1_Missense_Mutation_p.G56R	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	56					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.G56R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTCACTGGTCCCCATCCTGAA	0.378000													50	105					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145401	25145401	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:25145401G>A	ENST00000332271.5	-	11	1720	c.1304C>T	c.(1303-1305)aCa>aTa	p.T435I	PIWIL3_ENST00000527701.1_Missense_Mutation_p.T326I|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.T326I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	435					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.T435I(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCTTTTAATGTATGATGCCT	0.363000													76	207					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885793	180885793	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:180885793C>T	ENST00000367588.4	+	2	609	c.554C>T	c.(553-555)cCg>cTg	p.P185L		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	185								p.P185L(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGGGGGAGCCCGTGGCCTCCA	0.642000													15	23					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639359	18639359	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:18639359A>C	ENST00000380548.4	+	7	1123	c.784A>C	c.(784-786)Aaa>Caa	p.K262Q	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.K262Q|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.K262Q|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.K262Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	262						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.K262Q(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATTTCCAGACAAAGAGATACT	0.443000													40	144					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37703180	37703180	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:37703180C>G	ENST00000265107.4	+	13	1563	c.1407C>G	c.(1405-1407)atC>atG	p.I469M		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	469								p.I469M(2)		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)			AAATAGACATCACAGATGCGG	0.393000													30	188					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076322	87076322	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:87076322C>A	ENST00000276616.2	-	2	798	c.724G>T	c.(724-726)Gca>Tca	p.A242S	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	242	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.A242S(2)		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)			ATGTCCACTGCACTGGTATAA	0.463000													20	63					1.50039e-11	1.79621e-11	1	1	0
AKAP13	11214	broad.mit.edu	37	15	86266326	86266326	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:86266326C>A	ENST00000394518.2	+	26	6615	c.6520C>A	c.(6520-6522)Cta>Ata	p.L2174I	AKAP13_ENST00000394510.2_Missense_Mutation_p.L419I|AKAP13_ENST00000361243.2_Missense_Mutation_p.L2178I|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2174	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.L2178I(2)|p.L254I(2)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCAGGAAGATCTAGCACAGTC	0.418000													56	99					1.33661e-31	2.07461e-31	1	1	0
CORIN	10699	broad.mit.edu	37	4	47685848	47685848	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:47685848G>A	ENST00000273857.4	-	7	920	c.921C>T	c.(919-921)agC>agT	p.S307S	CORIN_ENST00000505909.1_Silent_p.S307S|CORIN_ENST00000502252.1_Silent_p.S240S|CORIN_ENST00000504584.1_Silent_p.S307S|CORIN_ENST00000508498.1_Silent_p.S168S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	307	LDL-receptor class A 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.S307S(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACAGATTCTCGCTGCAGTCTG	0.428000													38	126					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412420	105412420	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:105412420G>C	ENST00000333244.5	-	7	9487	c.9368C>G	c.(9367-9369)gCa>gGa	p.A3123G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3123						nucleus		p.A3123G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCAGCCGTGCACCATCCAA	0.617000													4	65					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28209990	28209990	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:28209990G>A	ENST00000284984.2	-	9	3266	c.2812C>T	c.(2812-2814)Cat>Tat	p.H938Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	938	TSP type-1 3.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.H938Y(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCTCCATCATGGGACAGACAC	0.458000													26	78					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	40999785	40999785	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:40999785G>C	ENST00000399564.4	-	40	5029	c.4579C>G	c.(4579-4581)Ctc>Gtc	p.L1527V	MROH2B_ENST00000506092.2_Missense_Mutation_p.L1082V	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L1527V(2)									TCACCTGTGAGTTTGACAGCT	0.483000													91	156					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227219083	227219083	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:227219083T>G	ENST00000366769.3	-	27	4877	c.3586A>C	c.(3586-3588)Aga>Cga	p.R1196R	CDC42BPA_ENST00000535525.1_Silent_p.R1176R|CDC42BPA_ENST00000366767.3_Silent_p.R1115R|CDC42BPA_ENST00000366765.3_Silent_p.R1209R|CDC42BPA_ENST00000366766.2_Silent_p.R1231R|CDC42BPA_ENST00000334218.5_Silent_p.R1196R|CDC42BPA_ENST00000366764.2_Silent_p.R1168R	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1209	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R1231R(2)|p.R1115R(2)|p.R1196R(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGCGGTCTCTGAATTTGTTT	0.418000													178	272					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566456	142566456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:142566456G>T	ENST00000392957.2	+	15	3032	c.2245G>T	c.(2245-2247)Gag>Tag	p.E749*	EPHB6_ENST00000411471.2_Nonsense_Mutation_p.E472*|EPHB6_ENST00000442129.1_Nonsense_Mutation_p.E749*	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	749	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.E734*(2)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGTGCTGACGGAGTTCATGGA	0.647000													11	59					1.61879e-10	1.89902e-10	1	1	0
TRO	7216	broad.mit.edu	37	X	54955191	54955191	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:54955191G>T	ENST00000173898.7	+	12	2146	c.2034G>T	c.(2032-2034)tgG>tgT	p.W678C	TRO_ENST00000375041.2_Missense_Mutation_p.W281C|TRO_ENST00000420798.2_Missense_Mutation_p.W209C|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	678					embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.W678C(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ctgggccctggaattgggATG	0.552000													17	21					2.48551e-13	3.08251e-13	1	1	0
ALG12	79087	broad.mit.edu	37	22	50304192	50304192	+	Missense_Mutation	SNP	C	C	T	rs117687848	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:50304192C>T	ENST00000330817.5	-	4	632	c.359G>A	c.(358-360)cGg>cAg	p.R120Q		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	120					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		p.R120Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCGAAGTGCCGTCTCACTTC	0.557000													4	38					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25261485	25261485	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:25261485G>T	ENST00000395990.2	-	17	2285	c.2028C>A	c.(2026-2028)tcC>tcA	p.S676S	CASC1_ENST00000545133.1_Silent_p.S657S|CASC1_ENST00000537577.1_3'UTR|CASC1_ENST00000395987.3_Silent_p.S722S|CASC1_ENST00000354189.5_3'UTR|CASC1_ENST00000320267.9_Silent_p.S716S	NM_001204102.1	NP_001191031.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	716								p.S722S(2)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTGGAGGTTAGGAGTAGCTGA	0.418000													25	60					3.80469e-20	5.23145e-20	1	1	0
UGT2B4	7363	broad.mit.edu	37	4	70346378	70346378	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:70346378T>C	ENST00000305107.6	-	6	1607	c.1561A>G	c.(1561-1563)Aca>Gca	p.T521A	UGT2B4_ENST00000381096.3_Missense_Mutation_p.T385A|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	521					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.T521A(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTCTTTCCTGTTCTAACAAAC	0.418000													59	158					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42166916	42166916	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:42166916G>T	ENST00000327628.5	+	2	496	c.96G>T	c.(94-96)gtG>gtT	p.V32V	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	32					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		p.V32V(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTTTAGATGTGTGCAACAGCA	0.488000													31	68					3.03874e-20	4.18585e-20	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20801732	20801732	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:20801732G>T	ENST00000359062.3	+	13	2716	c.2676G>T	c.(2674-2676)gtG>gtT	p.V892V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	892	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E893*(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTGACCATGTGGAATTTAAGC	0.398000													53	92					6.3008e-33	9.94243e-33	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46268485	46268485	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:46268485A>G	ENST00000372004.3	+	15	3088	c.2872A>G	c.(2872-2874)Att>Gtt	p.I958V	NCOA3_ENST00000341724.6_Missense_Mutation_p.I888V|NCOA3_ENST00000371997.3_Missense_Mutation_p.I953V|NCOA3_ENST00000371998.3_Missense_Mutation_p.I958V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	958					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.I958V(2)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGTGGCTCTATTCCCACATT	0.493000													164	219					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127727745	127727745	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:127727745C>A	ENST00000508053.1	-	17	2543	c.1569G>T	c.(1567-1569)atG>atT	p.M523I	FBN2_ENST00000508989.1_Missense_Mutation_p.M490I|FBN2_ENST00000262464.4_Missense_Mutation_p.M523I			P35556	FBN2_HUMAN	fibrillin 2	523	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.M523I(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTTATAACCCATGTTGCATT	0.348000													64	137					3.20846e-33	5.07338e-33	1	1	0
SETX	23064	broad.mit.edu	37	9	135206746	135206746	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:135206746C>T	ENST00000372169.2	-	8	1110	c.928G>A	c.(928-930)Gat>Aat	p.D310N	SETX_ENST00000224140.5_Missense_Mutation_p.D310N|SETX_ENST00000393220.1_Missense_Mutation_p.D310N			Q7Z333	SETX_HUMAN	senataxin	310					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.D310N(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACAATAGGATCCATAAGTTGA	0.423000													57	168					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													10	49					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40705942	40705942	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:40705942C>T	ENST00000372771.4	+	8	5595	c.5568C>T	c.(5566-5568)tcC>tcT	p.S1856S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1856					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S1856S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAGTTCCTTCCTTGGAAAACC	0.423000													50	131					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125109517	125109517	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:125109517C>T	ENST00000522917.1	+	36	4907	c.4701C>T	c.(4699-4701)cgC>cgT	p.R1567R	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.R1567R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1567						integral to membrane		p.R1567R(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAAGGGCCGCCTGCAGATGT	0.468000													146	132					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99945012	99945012	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:99945012T>C	ENST00000524871.1	+	13	1856	c.1566T>C	c.(1564-1566)gtT>gtC	p.V522V	CNTN5_ENST00000527185.1_Silent_p.V522V|CNTN5_ENST00000279463.3_Silent_p.V522V|CNTN5_ENST00000418526.2_Silent_p.V448V|CNTN5_ENST00000528682.1_Silent_p.V522V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	522	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V522V(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGAGCAGTTAGAGAAAACA	0.363000													7	12					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152566225	152566225	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:152566225T>A	ENST00000397345.3	-	12	1182	c.980A>T	c.(979-981)cAg>cTg	p.Q327L	NEB_ENST00000604864.1_Missense_Mutation_p.Q327L|NEB_ENST00000409198.1_Missense_Mutation_p.Q327L|NEB_ENST00000427231.2_Missense_Mutation_p.Q327L|NEB_ENST00000603639.1_Missense_Mutation_p.Q327L|NEB_ENST00000172853.10_Missense_Mutation_p.Q327L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	327					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.Q327L(4)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTTTCGGTCTGCATGAAGTA	0.398000													6	42					0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75678809	75678809	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:75678809C>A	ENST00000393284.3	-	15	1409	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Missense_Mutation_p.D92Y|CAPS2_ENST00000409799.1_Missense_Mutation_p.D420Y|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409445.3_Missense_Mutation_p.D502Y			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	502							calcium ion binding	p.D270Y(2)|p.D502Y(2)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TCTCCATAATCAACCTTGCCA	0.323000													92	123					1.29119e-40	2.15387e-40	1	1	0
AC005754.7	0	broad.mit.edu	37	5	140480179	140480179	+	RNA	SNP	T	T	G	rs1055410	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:140480179T>G	ENST00000607216.1	-	0	230																											GTTTCCCAGCTCTGTCTGAGG	0.527000													4	53					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116930936	116930936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:116930936G>A	ENST00000527407.1	+	7	1434	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000355044.3_Missense_Mutation_p.E412K			Q5VV63	ATRN1_HUMAN	attractin-like 1	0						integral to membrane	sugar binding	p.E412K(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTATGCTGTGGAGGGACATTC	0.373000													492	726					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633401	106633401	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:106633401G>C	ENST00000378026.4	-	2	1346	c.1210C>G	c.(1210-1212)Caa>Gaa	p.Q404E		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	404						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.Q404E(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TGACTCTTTTGCTGGAGTGCC	0.632000													23	32					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581394	82581394	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:82581394C>A	ENST00000423517.2	-	5	9212	c.8875G>T	c.(8875-8877)Gca>Tca	p.A2959S	PCLO_ENST00000333891.8_Missense_Mutation_p.A2959S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2890					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A2959S(4)|p.A2890S(2)		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						AGAGTAGTTGCAGGCTGCTGT	0.463000													90	215					5.12525e-22	7.20382e-22	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40411754	40411754	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:40411754C>G	ENST00000221347.6	-	7	3881	c.3874G>C	c.(3874-3876)Gcc>Ccc	p.A1292P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1292	VWFD 3.					extracellular region	protein binding	p.A1292P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCAGGACGGCAAACCGATGC	0.637000													17	25					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182322938	182322938	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:182322938G>A	ENST00000397033.2	+	2	643	c.213G>A	c.(211-213)gcG>gcA	p.A71A	ITGA4_ENST00000339307.4_Silent_p.A71A	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	71					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.A71A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAGTGGGTGCGCCCACTGCCA	0.612000													5	22					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087824	47087824	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:47087824G>A	ENST00000374312.1	+	3	1460	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	NPY4R_ENST00000395716.1_Silent_p.E347E	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.E347E(2)									CCCCCCTGGAGGAGTCGGAGC	0.557000													22	94					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927268	55927268	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55927268G>T	ENST00000313447.1	-	1	525	c.526C>A	c.(526-528)Cat>Aat	p.H176N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H176N(2)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CAGTAAAAATGACTGATGACA	0.358000													69	207					2.27196e-54	4.07663e-54	1	1	0
MMAA	166785	broad.mit.edu	37	4	146576326	146576326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:146576326G>T	ENST00000281317.5	+	7	2207	c.997G>T	c.(997-999)Gag>Tag	p.E333*	MMAA_ENST00000541599.1_Nonsense_Mutation_p.E52*	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	333						mitochondrion	GTP binding|nucleoside-triphosphatase activity	p.E333*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGAAGTGGAGAGGGGATCTC	0.423000													91	267					1.45855e-51	2.59868e-51	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11022998	11022998	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:11022998G>T	ENST00000304623.8	-	17	3071	c.2882C>A	c.(2881-2883)aCa>aAa	p.T961K	CTNND2_ENST00000458100.2_Missense_Mutation_p.T528K|CTNND2_ENST00000359640.2_Missense_Mutation_p.T903K|CTNND2_ENST00000511377.1_Missense_Mutation_p.T870K|CTNND2_ENST00000503622.1_Missense_Mutation_p.T624K|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	961					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.T961K(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAGACAGCTGTCACTGTGTC	0.547000													119	237					6.9661e-66	1.28958e-65	1	1	0
PER2	8864	broad.mit.edu	37	2	239165693	239165693	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:239165693C>A	ENST00000254657.3	-	17	2214	c.1935G>T	c.(1933-1935)acG>acT	p.T645T	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	645	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.T645T(2)		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)		TACCTACTCCCGTGCGGCTGT	0.587000											OREG0015336	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	41					0.00400662	0.00416579	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196197364	196197364	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:196197364G>T	ENST00000367433.5	-	27	3427	c.3326C>A	c.(3325-3327)aCt>aAt	p.T1109N	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.T1067N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.T1133N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1133						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.T1133N(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCAAAGTTGAGTTTCCTCCCG	0.398000													27	94					5.45727e-16	7.10475e-16	1	1	0
SLC22A7	10864	broad.mit.edu	37	6	43269342	43269342	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:43269342G>T	ENST00000372585.5	+	7	1068	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	SLC22A7_ENST00000372589.3_Missense_Mutation_p.G323W|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G323W|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	325						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.G325W(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGTGGCCGCCGGGGAACGGGT	0.587000													21	34					9.95505e-16	1.2916e-15	1	1	0
CIZ1	25792	broad.mit.edu	37	9	130941545	130941545	+	Missense_Mutation	SNP	C	C	G	rs111464781		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:130941545C>G	ENST00000538431.1	-	8	1188	c.941G>C	c.(940-942)cGg>cCg	p.R314P	CIZ1_ENST00000277465.4_Missense_Mutation_p.R314P|CIZ1_ENST00000357558.5_Missense_Mutation_p.R314P|CIZ1_ENST00000541172.1_Missense_Mutation_p.R213P|CIZ1_ENST00000372938.5_Missense_Mutation_p.R314P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000372954.1_Missense_Mutation_p.R290P|CIZ1_ENST00000393608.1_Missense_Mutation_p.R314P|CIZ1_ENST00000325721.8_Missense_Mutation_p.R285P|CIZ1_ENST00000372948.3_Missense_Mutation_p.R314P	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	314	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding	p.R314P(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCAGGACCCGTGGCTGGAA	0.632000													14	36					0	0	1	0	0
JKAMP	51528	broad.mit.edu	37	14	59970757	59970757	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:59970757A>T	ENST00000554271.1	+	7	1471	c.945A>T	c.(943-945)tcA>tcT	p.S315S	JKAMP_ENST00000425728.2_Silent_p.S295S|JKAMP_ENST00000356057.5_Silent_p.S309S|JKAMP_ENST00000261247.9_Silent_p.S301S|RP11-701B16.2_ENST00000554253.1_RNA			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	316					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	p.S311S(2)|p.S309S(2)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CCGAACCTTCAAGGATACTCT	0.398000													46	126					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1969334	1969334	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:1969334C>G	ENST00000382722.5	-	19	2279	c.1917G>C	c.(1915-1917)acG>acC	p.T639T	CACNA2D4_ENST00000585708.1_Silent_p.T575T|CACNA2D4_ENST00000588077.1_Silent_p.T575T|CACNA2D4_ENST00000585732.1_Silent_p.T500T|CACNA2D4_ENST00000586184.1_Silent_p.T639T|CACNA2D4_ENST00000587995.1_Silent_p.T614T|CACNA2D4_ENST00000539048.2_5'UTR	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	639						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.T639T(4)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CGCTGATGTCCGTGAAGAAGT	0.502000													11	31					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124646418	124646418	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:124646418C>A	ENST00000311075.3	-	2	510	c.472G>T	c.(472-474)Ggc>Tgc	p.G158C		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	158	Thr-rich.					extracellular region|integral to membrane|plasma membrane		p.G158C(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AAAGCGGTGCCAGTGGGAGGC	0.473000													105	310					1.23489e-42	2.111e-42	1	1	0
TRAV8-6	28680	broad.mit.edu	37	14	22447104	22447104	+	RNA	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:22447104C>T	ENST00000390443.3	+	0	305																											GCTTGACAGCCAAGTCCCTGT	0.468000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	227	554					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68381607	68381607	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:68381607T>A	ENST00000361478.1	-	2	1852	c.1475A>T	c.(1474-1476)gAt>gTt	p.D492V	PJA1_ENST00000374571.4_Missense_Mutation_p.D437V|PJA1_ENST00000374583.1_Missense_Mutation_p.D492V|PJA1_ENST00000374584.3_Missense_Mutation_p.D304V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	492							zinc ion binding	p.D492V(2)|p.D304V(2)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GTTGTTTCCATCCAGCATGAA	0.478000													21	26					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499667	18499667	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:18499667G>T	ENST00000433979.1	+	11	1638	c.1522G>T	c.(1522-1524)Gta>Tta	p.V508L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.V508L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.V508L|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.V508L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	508					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	p.V508L(4)		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)				TTTTCAGCCTGTAAATGTACC	0.438000													90	167					3.21569e-47	5.57239e-47	1	1	0
MAGEF1	64110	broad.mit.edu	37	3	184429233	184429233	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:184429233C>A	ENST00000317897.3	-	1	603	c.377G>T	c.(376-378)cGg>cTg	p.R126L		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	126	MAGE.							p.R126L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			AAAGACATACCGCAGATGCTC	0.488000													42	107					8.0703e-11	9.52621e-11	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77378052	77378052	+	Splice_Site	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:77378052T>C	ENST00000451710.3	-	26	3774		c.e26-2		TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000360774.1_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.?(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCTGTAACCCTAGTGGTGAAG	0.458000													57	110					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811224	123811224	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123811224C>T	ENST00000307033.2	+	1	975	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L301L(2)|p.L301M(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATGAAGAAGCTGTGGAGGAG	0.493000													147	355					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178977516	178977516	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:178977516G>T	ENST00000286070.5	+	1	335	c.243G>T	c.(241-243)agG>agT	p.R81S		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	81	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	p.R81S(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AGGCCTGCAGGGCCATGGAGG	0.652000													19	40					1.40151e-16	1.84039e-16	1	1	0
POTEC	388468	broad.mit.edu	37	18	14542890	14542890	+	Missense_Mutation	SNP	G	G	C	rs45469098	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:14542890G>C	ENST00000358970.5	-	1	255	c.256C>G	c.(256-258)Cat>Gat	p.H86D	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	86			H -> D (in dbSNP:rs45469098).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAGTTGTCATGGTCTCCAGAA	0.592000													9	201					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77423091	77423091	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:77423091C>A	ENST00000451710.3	-	14	1735		c.e14-1		TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Splice_Site|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000360774.1_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.?(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAAGGGTATGCTGCAACAAAA	0.358000													52	126					7.75977e-34	1.23215e-33	1	1	0
DTX1	1840	broad.mit.edu	37	12	113515246	113515246	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:113515246C>A	ENST00000257600.3	+	2	780	c.277C>A	c.(277-279)Cgg>Agg	p.R93R		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	93	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.R93R(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCGGCCCGTGCGGCGCAACTT	0.682000													23	20					1.61788e-16	2.12085e-16	1	1	0
PREX1	57580	broad.mit.edu	37	20	47364417	47364417	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:47364417C>A	ENST00000396220.1	-	2	242	c.219_splice	c.e2-1	p.A74_splice	PREX1_ENST00000371941.3_Splice_Site_p.A74_splice			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	74	DH.				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	p.A74S(4)|p.A74T(2)		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)			TGCAGGAATGCCTGGAGGAGA	0.592000													19	66					1.33834e-09	1.53909e-09	1	1	0
EGR2	1959	broad.mit.edu	37	10	64575716	64575716	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:64575716A>G	ENST00000242480.3	-	1	399	c.74T>C	c.(73-75)aTc>aCc	p.I25T	EGR2_ENST00000493899.2_5'UTR|EGR2_ENST00000411732.1_5'UTR|EGR2_ENST00000439032.1_Missense_Mutation_p.I25T	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	25					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.I25T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CACCGGGTAGATGTTGTCAGA	0.572000													48	105					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126180702	126180702	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:126180702C>A	ENST00000389709.3	-	6	1856	c.1803G>T	c.(1801-1803)gtG>gtT	p.V601V	ZXDC_ENST00000336332.5_Silent_p.V601V	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	601	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V601V(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCACAGTCTGCACGTCATCCA	0.567000													35	103					1.06647e-15	1.38132e-15	1	1	0
GBE1	2632	broad.mit.edu	37	3	81586172	81586172	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:81586172G>A	ENST00000429644.2	-	13	2336	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	GBE1_ENST00000489715.1_Missense_Mutation_p.R524W	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	565					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.R565W(4)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TGAAACTGCCGCCTGGCATAA	0.383000									Glycogen Storage Disease, type IV				48	43					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168096927	168096927	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:168096927C>A	ENST00000519560.1	-	35	4616	c.4197G>T	c.(4195-4197)ggG>ggT	p.G1399G	SLIT3_ENST00000332966.8_Silent_p.G1406G|SLIT3_ENST00000404867.3_Silent_p.G1399G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1399	EGF-like 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.G1399G(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACACAAGTCCCCTCCATAGC	0.552000													47	75					5.82388e-19	7.87937e-19	1	1	0
TMEM2	23670	broad.mit.edu	37	9	74327059	74327059	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:74327059C>A	ENST00000377044.4	-	16	3248	c.2709G>T	c.(2707-2709)atG>atT	p.M903I	TMEM2_ENST00000377066.5_Missense_Mutation_p.M840I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	903						integral to membrane		p.M903I(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAATTCTTCATGAGGAAGC	0.428000													50	187					1.27862e-28	1.92937e-28	1	1	0
PPFIA4	8497	broad.mit.edu	37	1	203024729	203024729	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:203024729G>T	ENST00000367240.2	+	15	2463	c.1936G>T	c.(1936-1938)Ggc>Tgc	p.G646C	PPFIA4_ENST00000599966.1_Missense_Mutation_p.G161C|PPFIA4_ENST00000295706.4_Missense_Mutation_p.G161C|PPFIA4_ENST00000447715.2_Missense_Mutation_p.G645C|PPFIA4_ENST00000272198.6_Missense_Mutation_p.G161C|PPFIA4_ENST00000414050.2_Missense_Mutation_p.G374C			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	161					cell communication	cell surface|cytoplasm	protein binding	p.G161C(2)|p.G792C(2)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACCACTCAGCGGCCGCTCCAC	0.662000													20	46					1.26612e-14	1.60969e-14	1	1	0
DST	667	broad.mit.edu	37	6	56472157	56472157	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:56472157G>A	ENST00000370754.5	-	39	7169	c.7170C>T	c.(7168-7170)aaC>aaT	p.N2390N	DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Silent_p.N2212N|DST_ENST00000446842.2_Silent_p.N1886N|DST_ENST00000312431.6_Silent_p.N2212N|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Silent_p.N2212N			Q03001	DYST_HUMAN	dystonin	2212					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)			GTGAATCCCTGTTTGTATTAT	0.343000													32	81					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56901119	56901119	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:56901119G>A	ENST00000438926.2	+	2	449	c.420G>A	c.(418-420)aaG>aaA	p.K140K	SLC12A3_ENST00000563236.1_Silent_p.K140K|SLC12A3_ENST00000262502.5_Silent_p.K139K|SLC12A3_ENST00000566786.1_Silent_p.K139K	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	140					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.K140K(2)		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)	GCTGGGTCAAGGGGGTGATGG	0.662000													3	8					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68030483	68030483	+	Splice_Site	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:68030483G>C	ENST00000262210.5	+	12	1513	c.1481_splice	c.e12-1	p.R494_splice	CSPP1_ENST00000412460.1_Splice_Site_p.R200_splice	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	529	Pro-rich.					centrosome|microtubule|spindle		p.R494S(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTTCATACAGGATTGCACCTC	0.353000													111	345					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50121455	50121455	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:50121455C>A	ENST00000046087.2	-	3	318	c.249G>T	c.(247-249)gtG>gtT	p.V83V	ZPBP_ENST00000419417.1_Silent_p.V83V	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	83					binding of sperm to zona pellucida	extracellular region		p.V83V(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTACACATAACACGTGTGGAC	0.353000													65	188					4.49761e-31	6.92432e-31	1	1	0
URGCP	55665	broad.mit.edu	37	7	43918478	43918478	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:43918478T>A	ENST00000336086.6	-	4	2691	c.455A>T	c.(454-456)gAc>gTc	p.D152V	URGCP_ENST00000453200.1_Missense_Mutation_p.D195V|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.D152V|URGCP_ENST00000443736.1_Missense_Mutation_p.D152V|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.D152V|URGCP_ENST00000402306.3_Missense_Mutation_p.D186V			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	195					cell cycle	centrosome|nucleus	GTP binding	p.D152V(2)|p.D195V(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGAAACTGTCTGAGGAGAG	0.517000													19	19					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618448	156618448	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:156618448C>G	ENST00000329117.4	+	6	1194	c.858C>G	c.(856-858)acC>acG	p.T286T	BCAN_ENST00000361588.5_Silent_p.T286T|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	286	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.T286T(4)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGATTGCCACCACGGGCCAAC	0.627000													94	137					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39985681	39985681	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:39985681G>T	ENST00000373257.3	+	15	1896	c.1803_splice	c.e15-1	p.R602_splice		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	602	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	p.R602L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGGCCTCAGCGGCGCCTGAAC	0.612000													11	30					9.31168e-06	1.01692e-05	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181546938	181546938	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:181546938C>A	ENST00000526775.1	+	4	714	c.549C>A	c.(547-549)caC>caA	p.H183Q	CACNA1E_ENST00000367570.1_Missense_Mutation_p.H183Q|CACNA1E_ENST00000367567.4_De_novo_Start_InFrame|CACNA1E_ENST00000367573.2_Missense_Mutation_p.H183Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.H134Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.H134Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.H183Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	183					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.H183Q(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAATACTCACGTGGACCTGA	0.552000													49	95					9.55234e-14	1.19641e-13	1	1	0
VPS36	51028	broad.mit.edu	37	13	53024666	53024666	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:53024666G>A	ENST00000378060.4	-	1	91	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	22	GLUE N-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.R22C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CGCACCCCGCGCTGCTGGATC	0.711000													11	2					0	0	1	0	0
CLIC2	1193	broad.mit.edu	37	X	154509358	154509358	+	Splice_Site	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:154509358C>G	ENST00000369449.2	-	4	512		c.e4-1		CLIC2_ENST00000465553.1_Splice_Site	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2						signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTGAGGGTACCTTAAAAAGAA	0.418000													39	53					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144854358	144854358	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:144854358G>T	ENST00000367545.3	+	42	6195	c.6195G>T	c.(6193-6195)tgG>tgT	p.W2065C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2065					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.W2065C(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCAACGCTGGGATGCAATTG	0.438000													70	276					1.75807e-36	2.84515e-36	1	1	0
HJURP	55355	broad.mit.edu	37	2	234750372	234750372	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:234750372C>A	ENST00000411486.2	-	8	1119	c.1054G>T	c.(1054-1056)Ggt>Tgt	p.G352C	HJURP_ENST00000432087.1_Missense_Mutation_p.G298C|HJURP_ENST00000441687.1_Missense_Mutation_p.G267C	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	352					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.G352F(2)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AATTTTAAACCTGTCTTACGG	0.438000													6	53					0.0215528	0.0218697	1	1	0
GLRB	2743	broad.mit.edu	37	4	158058029	158058029	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:158058029C>A	ENST00000264428.4	+	6	871	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.L201M|GLRB_ENST00000541722.1_Missense_Mutation_p.L201M	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	201					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.L201M(2)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CAAGATGCAACTGGAGAGCTG	0.363000													58	130					1.52496e-24	2.20466e-24	1	1	0
PPP1CA	5499	broad.mit.edu	37	11	67168577	67168577	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:67168577G>T	ENST00000376745.4	-	2	297	c.149C>A	c.(148-150)cCc>cAc	p.P50H	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.P61H|PPP1CA_ENST00000358239.4_Intron	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	50					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	p.P147H(2)|p.P50H(1)|p.P61H(1)		breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CAGAAGAATGGGCTGGCTCAG	0.612000													3	3					0.004672	0.00483772	1	1	0
U2SURP	23350	broad.mit.edu	37	3	142747463	142747463	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:142747463A>T	ENST00000397933.2	+	15	1640	c.358A>T	c.(358-360)Agt>Tgt	p.S120C	U2SURP_ENST00000473835.2_Missense_Mutation_p.S529C|U2SURP_ENST00000493598.2_Missense_Mutation_p.S528C			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	529					RNA processing	nucleus	nucleotide binding|RNA binding	p.S529C(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGAGGAACCTAGTAAAAAGGG	0.333000													35	90					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282083	152282083	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:152282083C>G	ENST00000368799.1	-	3	5314	c.5279G>C	c.(5278-5280)gGa>gCa	p.G1760A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1760	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1760A(2)		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)			CCCTGAACGTCCAGACCTTTC	0.597000									Ichthyosis				202	381					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915967	26915967	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:26915967G>A	ENST00000231021.4	-	3	466	c.294C>T	c.(292-294)ggC>ggT	p.G98G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	98	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G98G(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAAATAGACTGCCAGCCCCAT	0.368000													82	176					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6706000	6706000	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:6706000C>T	ENST00000377577.5	-	8	866	c.743G>A	c.(742-744)cGt>cAt	p.R248H	DNAJC11_ENST00000377573.5_Missense_Mutation_p.R158H|DNAJC11_ENST00000349363.6_Missense_Mutation_p.R210H|DNAJC11_ENST00000294401.7_Missense_Mutation_p.R248H|DNAJC11_ENST00000542246.1_Missense_Mutation_p.R210H	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	248					protein folding		heat shock protein binding|unfolded protein binding	p.R248H(2)|p.R278H(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGATTCCACGGGATGAAAA	0.537000													86	307					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369779	78369779	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:78369779G>A	ENST00000278550.7	-	34	8096	c.7634C>T	c.(7633-7635)tCc>tTc	p.S2545F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.S2545F(4)									GGTGATTGTGGAGCCATAGAG	0.537000													40	102					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126776495	126776495	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:126776495C>T	ENST00000274473.6	+	19	2565	c.2298C>T	c.(2296-2298)gaC>gaT	p.D766D	MEGF10_ENST00000503335.2_Silent_p.D766D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	766	EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.D766D(2)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACGGAGCTGACTGCGACCACA	0.507000													92	138					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43447307	43447307	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:43447307G>T	ENST00000395891.1	+	8	1383	c.778G>T	c.(778-780)Gtg>Ttg	p.V260L	HECW1_ENST00000453890.1_Missense_Mutation_p.V260L|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	260	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.V239L(2)|p.V260L(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGCAACACCGTGAACCCCAT	0.547000													22	175					2.41591e-17	3.20573e-17	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49559353	49559353	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:49559353C>A	ENST00000561648.1	-	6	3683	c.3630G>T	c.(3628-3630)ccG>ccT	p.P1210P	ZNF423_ENST00000562520.1_Silent_p.P1150P|ZNF423_ENST00000563137.2_Silent_p.P1150P|ZNF423_ENST00000562871.1_Silent_p.P1150P|ZNF423_ENST00000262383.2_Silent_p.P1210P|ZNF423_ENST00000535559.1_Silent_p.P1093P|ZNF423_ENST00000567169.1_Silent_p.P1093P	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1210					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P1210P(6)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGAGCTTGGCCGGGGAGTCGA	0.572000													15	70					0.00498961	0.00515253	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103128358	103128358	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:103128358C>T	ENST00000375735.2	+	69	10627	c.10483C>T	c.(10483-10485)Ctg>Ttg	p.L3495L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L3502L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3495					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	p.L935L(2)		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)		CTATCTCCCCCTGGCTGAGAG	0.423000													36	127					0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77727720	77727720	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:77727720G>A	ENST00000353172.5	-	2	731	c.687C>T	c.(685-687)ttC>ttT	p.F229F	KCTD14_ENST00000533144.1_Silent_p.F199F	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	229						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F229F(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AGAACTTGGAGAATACCTTGT	0.493000													41	159					0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35709856	35709856	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:35709856C>T	ENST00000396081.1	-	3	1112	c.308G>A	c.(307-309)aGt>aAt	p.S103N	HERPUD2_ENST00000311350.3_Missense_Mutation_p.S103N	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	103	Ser-rich.				response to unfolded protein	integral to membrane		p.S103N(2)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGCTTCATGACTTTCTCTATT	0.378000													26	166					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20812279	20812279	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:20812279G>A	ENST00000328879.4	-	5	1277	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	KLHL22_ENST00000440659.2_Missense_Mutation_p.P231L	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	374					cell division	Cul3-RING ubiquitin ligase complex		p.P374L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTTGTGCCGTGGGTCATACCT	0.597000													6	17					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726618	63726618	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:63726618C>A	ENST00000421025.1	+	5	876	c.607C>A	c.(607-609)Cag>Aag	p.Q203K	ZNF679_ENST00000255746.4_Missense_Mutation_p.Q203K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q203K(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACATCAACATCAGATAATTCA	0.338000													7	14					0.00198382	0.00207114	1	1	0
CEP135	9662	broad.mit.edu	37	4	56883961	56883961	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:56883961C>T	ENST00000257287.4	+	22	3074	c.2950C>T	c.(2950-2952)Ctt>Ttt	p.L984F		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	984					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.L984F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTGCATTAAACTTGATTCAGG	0.348000													8	101					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	10027563	10027563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:10027563C>A	ENST00000506583.1	-	3	245	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	SLC2A9_ENST00000309065.3_Nonsense_Mutation_p.E10*			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.E10*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						TCTTCATCTTCTCCTCGGTCC	0.393000													25	77					4.31634e-10	5.017e-10	1	1	0
C2orf57	165100	broad.mit.edu	37	2	232457748	232457748	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:232457748C>G	ENST00000313965.2	+	1	174	c.86C>G	c.(85-87)cCa>cGa	p.P29R		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	29								p.P29R(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGTCAGGTCCCACTCACAGCA	0.607000													13	77					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55406997	55406997	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:55406997G>T	ENST00000341048.4	-	10	1729	c.1578C>A	c.(1576-1578)caC>caA	p.H526Q	ANKRD55_ENST00000434982.2_Missense_Mutation_p.H238Q|ANKRD55_ENST00000504958.2_Missense_Mutation_p.H483Q	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	525								p.H526Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGACCTCTTGGTGACCAGGCC	0.463000													105	224					1.4939e-78	2.88516e-78	1	1	0
AMER3	205147	broad.mit.edu	37	2	131520903	131520903	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:131520903G>T	ENST00000423981.1	+	2	1368	c.1258G>T	c.(1258-1260)Gac>Tac	p.D420Y	AMER3_ENST00000321420.4_Missense_Mutation_p.D420Y	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									p.D420Y(2)									CTACAGTGGGGACGCCCTCTA	0.622000													5	17					2.0095e-06	2.21687e-06	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140969330	140969330	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:140969330G>T	ENST00000298296.1	+	4	657	c.657G>T	c.(655-657)acG>acT	p.T219T	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	219	MAGE 1.							p.T219T(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACACATACACGGGCTACTTTC	0.438000													103	276					6.62378e-67	1.23222e-66	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113221313	113221313	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:113221313C>A	ENST00000401783.2	-	19	3739	c.3403G>T	c.(3403-3405)Gca>Tca	p.A1135S	SVEP1_ENST00000374469.1_Missense_Mutation_p.A1112S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.A1135S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1135					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.A1135S(2)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCTTCCCTGCATTAGGTTGG	0.463000													102	727					6.91701e-41	1.16151e-40	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803686	185803686	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:185803686C>A	ENST00000302277.6	+	4	4157	c.3563C>A	c.(3562-3564)cCc>cAc	p.P1188H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1188						intracellular	zinc ion binding	p.P1188H(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCATCTTTACCCCATGCACTC	0.473000													108	552					2.32058e-37	3.78778e-37	1	1	0
KIRREL	55243	broad.mit.edu	37	1	158063219	158063219	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:158063219A>T	ENST00000368172.1	+	8	1016	c.1004A>T	c.(1003-1005)tAc>tTc	p.Y335F	KIRREL_ENST00000360089.4_Missense_Mutation_p.Y357F|KIRREL_ENST00000359209.6_Missense_Mutation_p.Y521F|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y418F|KIRREL_ENST00000416935.2_Missense_Mutation_p.Y421F|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y537F			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	521	Ig-like C2-type 4.					integral to membrane		p.Y521F(2)|p.Y357F(2)|p.Y537F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TTCTTCCTCTACCGGCGCCGC	0.602000													78	120					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54281167	54281167	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:54281167C>A	ENST00000381405.4	-	1	324	c.179G>T	c.(178-180)gGg>gTg	p.G60V	ESM1_ENST00000381403.4_Missense_Mutation_p.G60V|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	60	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	p.G60V(2)		breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCTCCCCGCCCTGCAGCGCA	0.602000													46	101					3.4597e-24	4.99223e-24	1	1	0
POU4F2	5458	broad.mit.edu	37	4	147561705	147561705	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:147561705G>T	ENST00000281321.3	+	2	1223	c.975G>T	c.(973-975)gaG>gaT	p.E325D		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	325	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.E325D(2)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GGCTCGAGGAGGCCGAGAAGT	0.592000													46	94					2.14674e-31	3.32525e-31	1	1	0
LEPR	3953	broad.mit.edu	37	1	66083707	66083707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:66083707G>A	ENST00000349533.6	+	16	2458	c.2273G>A	c.(2272-2274)tGg>tAg	p.W758*	LEPR_ENST00000371058.1_Nonsense_Mutation_p.W758*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.W758*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.W758*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Nonsense_Mutation_p.W758*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	758	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.W758*(6)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTGTTTCCTGGATACTATCA	0.313000													61	134					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58567503	58567503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:58567503G>T	ENST00000348616.4	+	10	1654	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	CDH26_ENST00000244047.5_Nonsense_Mutation_p.E452*	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	452	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E452*(4)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CATCACCGTGGAGCCAATTGA	0.413000													32	74					2.19358e-23	3.14137e-23	1	1	0
NEU2	4759	broad.mit.edu	37	2	233897584	233897584	+	Splice_Site	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:233897584T>A	ENST00000233840.3	+	1	201		c.e1+2			NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)								exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CAGGTTCAGGTGAGGCAGGAG	0.602000													2	6					0	0	1	0	0
LYZL6	57151	broad.mit.edu	37	17	34263771	34263771	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:34263771C>A	ENST00000585556.1	-	4	699	c.365G>T	c.(364-366)gGg>gTg	p.G122V	LYZL6_ENST00000394523.3_Missense_Mutation_p.G122V|LYZL6_ENST00000293274.4_Missense_Mutation_p.G122V			O75951	LYZL6_HUMAN	lysozyme-like 6	122					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G122V(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTGTTCATCCCCCGTGCTCC	0.577000													51	164					6.3091e-27	9.29827e-27	1	1	0
PRSS54	221191	broad.mit.edu	37	16	58314662	58314662	+	Splice_Site	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:58314662C>T	ENST00000219301.4	-	7	1049		c.e7-1		CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000567164.1_Splice_Site|PRSS54_ENST00000543437.1_Splice_Site|CCDC113_ENST00000219299.4_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54						proteolysis	extracellular region	serine-type endopeptidase activity	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGGGTCCCCCTGTGATAAAA	0.453000													81	95					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076887	49076887	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:49076887C>A	ENST00000344532.3	-	11	1513	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S	RCBTB2_ENST00000544904.1_3'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.A369S|RCBTB2_ENST00000544492.1_Missense_Mutation_p.A90S	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	364							Ran guanyl-nucleotide exchange factor activity	p.A364S(2)		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)		CACGTGACGGCGGGCGTGGCA	0.592000													52	60					3.98911e-17	5.2748e-17	1	1	0
MED12L	116931	broad.mit.edu	37	3	151134112	151134112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:151134112C>T	ENST00000474524.1	+	41	6243	c.6205C>T	c.(6205-6207)Cag>Tag	p.Q2069*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2069	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2069*(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			Gcagcagccccagcagcccca	0.527000													12	39					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131964130	131964130	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:131964130G>C	ENST00000286355.5	-	3	3317	c.1225C>G	c.(1225-1227)Cgc>Ggc	p.R409G	ADCY8_ENST00000377928.3_Missense_Mutation_p.R409G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	409					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.R409G(2)		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)			TTCTCATAGCGATGGATGTAG	0.517000										HNSCC(32;0.087)			50	160					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261202	21261202	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:21261202T>A	ENST00000311620.5	+	2	388	c.315T>A	c.(313-315)gcT>gcA	p.A105A		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	105								p.A105A(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGGATGCTGCTGCCAGCAGGG	0.542000													44	132					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49597803	49597803	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:49597803C>A	ENST00000527477.1	+	0	407																											CTAAAACGGTCCTTCTGTTGA	0.493000													11	38					1.52009e-12	1.85789e-12	1	1	0
ST3GAL6	10402	broad.mit.edu	37	3	98503797	98503797	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:98503797G>T	ENST00000394162.1	+	7	811	c.344G>T	c.(343-345)tGt>tTt	p.C115F	ST3GAL6_ENST00000265261.6_Intron|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.C115F|ST3GAL6_ENST00000462152.1_3'UTR	NM_006100.2	NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	115					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	p.C115F(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AGCATACCCTGTAAAAAGTGT	0.368000													34	131					3.43241e-23	4.88781e-23	1	1	0
TRIML2	205860	broad.mit.edu	37	4	189020209	189020209	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:189020209C>A	ENST00000512729.1	-	4	825	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	TRIML2_ENST00000326754.3_Missense_Mutation_p.G151C|TRIML2_ENST00000536972.1_Missense_Mutation_p.G201C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	151							ligase activity	p.G151C(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCAAGGTGCCTTCCCCACAC	0.458000													23	46					2.79863e-10	3.26292e-10	1	1	0
ZAN	7455	broad.mit.edu	37	7	100373327	100373327	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100373327C>A	ENST00000542585.1	+	0	6209				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.Q2021K(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGCCATCTCCCAGATCCCTGG	0.532000													4	45					5.18039e-06	5.69018e-06	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248845065	248845065	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:248845065G>A	ENST00000342623.3	-	1	564	c.541C>T	c.(541-543)Cat>Tat	p.H181Y		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H181Y(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GCCAACACATGAGGGATGTCA	0.502000													6	68					0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123434340	123434340	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:123434340C>A	ENST00000542678.1	-	4	3680	c.842G>T	c.(841-843)cGc>cTc	p.R281L	ABCB9_ENST00000346530.5_Missense_Mutation_p.R281L|ABCB9_ENST00000442028.2_Missense_Mutation_p.R281L|ABCB9_ENST00000442833.2_Missense_Mutation_p.R281L|ABCB9_ENST00000392439.3_Missense_Mutation_p.R281L|ABCB9_ENST00000344275.7_Missense_Mutation_p.R281L|ABCB9_ENST00000540285.1_Missense_Mutation_p.R281L|ABCB9_ENST00000280560.8_Missense_Mutation_p.R281L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	281	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	p.R281L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCAACCTGTGCGGTTCTCATC	0.567000													18	22					5.3912e-06	5.91318e-06	1	1	0
ADC	113451	broad.mit.edu	37	1	33562427	33562427	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:33562427C>T	ENST00000294517.6	+	9	1460	c.873C>T	c.(871-873)atC>atT	p.I291I	ADC_ENST00000358680.3_Silent_p.I133I|ADC_ENST00000373440.1_Silent_p.I133I|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Silent_p.I291I|ADC_ENST00000398167.1_Silent_p.I291I|ADC_ENST00000373443.3_Silent_p.I291I	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	291					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	p.I291I(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CAGTCAGCATCATTGCCAAGA	0.592000													125	380					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75672394	75672394	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:75672394C>A	ENST00000370855.5	-	24	2171	c.2058G>T	c.(2056-2058)ctG>ctT	p.L686L	SLC44A5_ENST00000535611.1_Silent_p.L556L|SLC44A5_ENST00000370859.3_Intron	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	686						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.L686L(2)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CATTTCTTTCCAGATCTTCAC	0.413000													39	124					9.84934e-19	1.32079e-18	1	1	0
LTBP2	4053	broad.mit.edu	37	14	74969481	74969481	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:74969481G>T	ENST00000261978.4	-	34	5431	c.5045C>A	c.(5044-5046)cCc>cAc	p.P1682H	LTBP2_ENST00000556690.1_Missense_Mutation_p.P1638H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1682					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P1682H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGTGTCCTCGGGGCCCAGGTA	0.632000													22	45					9.95505e-16	1.2916e-15	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21416983	21416983	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:21416983G>T	ENST00000313654.9	+	25	3264	c.3023G>T	c.(3022-3024)cGc>cTc	p.R1008L	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1008L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1008	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1008L(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACATGAGCCGCATCGCCATG	0.488000													25	116					6.38683e-12	7.73143e-12	1	1	0
ASTN1	460	broad.mit.edu	37	1	176927497	176927497	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:176927497C>G	ENST00000367654.2	-	10	1757	c.1744G>C	c.(1744-1746)Gat>Cat	p.D582H	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D574H|ASTN1_ENST00000367657.3_Missense_Mutation_p.D574H|ASTN1_ENST00000361833.2_Missense_Mutation_p.D574H			O14525	ASTN1_HUMAN	astrotactin 1	582					cell migration|neuron cell-cell adhesion	integral to membrane		p.D574H(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCACAGCATCCTCCATCACA	0.532000													71	183					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777159	123777159	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123777159C>T	ENST00000321355.2	+	1	51	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S7S(2)		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)		AAAACCATTCCACAGTGACTG	0.388000													42	121					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141256	143141256	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:143141256C>G	ENST00000332690.1	+	1	711	c.711C>G	c.(709-711)ccC>ccG	p.P237P	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	237					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.P237P(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCCGAGAGCCCAGTGTGCAGG	0.483000													87	236					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248844970	248844970	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:248844970C>A	ENST00000342623.3	-	1	659	c.636G>T	c.(634-636)atG>atT	p.M212I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M212I(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGAGATCATCATGAGAATAA	0.493000													27	73					1.80694e-10	2.11321e-10	1	1	0
RYR2	6262	broad.mit.edu	37	1	237951302	237951302	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:237951302A>C	ENST00000366574.2	+	92	13660	c.13343A>C	c.(13342-13344)gAa>gCa	p.E4448A	RYR2_ENST00000360064.6_Missense_Mutation_p.E4454A|RYR2_ENST00000542537.1_Missense_Mutation_p.E4432A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4448	Glu-rich (acidic).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E4446A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGATGGAGAAAAAGAAGAG	0.418000													26	110					0	0	1	0	0
FAM218A	152756	broad.mit.edu	37	4	165878351	165878351	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:165878351G>T	ENST00000513876.2	+	1	252	c.177G>T	c.(175-177)ttG>ttT	p.L59F	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN	family with sequence similarity 218, member A	59								p.L59F(2)									GTGTCTCTTTGCTCAGACATC	0.612000													6	32					1.06961e-07	1.20094e-07	1	1	0
PLCG1	5335	broad.mit.edu	37	20	39801184	39801184	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:39801184G>T	ENST00000373272.2	+	26	3434	c.3029G>T	c.(3028-3030)cGc>cTc	p.R1010L	PLCG1_ENST00000244007.3_Missense_Mutation_p.R1010L|PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.R1010L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1010	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	p.R1010L(2)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAGCTCTCCCGCATCTACCCC	0.542000													17	75					8.34094e-07	9.242e-07	1	1	0
LRP1B	53353	broad.mit.edu	37	2	140995750	140995750	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:140995750C>A	ENST00000389484.3	-	89	14502	c.13531G>T	c.(13531-13533)Gat>Tat	p.D4511Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4511					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D4511Y(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCCAGGATCTAAAAGACCT	0.373000										TSP Lung(27;0.18)			115	247					3.69866e-55	6.65234e-55	1	1	0
MUC16	94025	broad.mit.edu	37	19	9020128	9020128	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:9020128A>T	ENST00000397910.4	-	21	37570	c.37367T>A	c.(37366-37368)gTg>gAg	p.V12456E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12458	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V12456E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGCATCCACTCCAGTGGC	0.517000													311	463					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87701591	87701591	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:87701591T>G	ENST00000436978.1	+	36	6423	c.5943T>G	c.(5941-5943)tcT>tcG	p.S1981S	PTPN13_ENST00000411767.2_Silent_p.S1976S|PTPN13_ENST00000427191.2_Silent_p.S1957S|PTPN13_ENST00000316707.6_Silent_p.S1785S|PTPN13_ENST00000511467.1_Silent_p.S1981S	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1976						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.S1981S(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAAAGAGGTCTGCTGTTTCAG	0.423000													33	83					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200298195	200298195	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:200298195C>A	ENST00000417098.1	-	3	1028	c.212G>T	c.(211-213)gGc>gTc	p.G71V	SATB2_ENST00000428695.1_Missense_Mutation_p.G71V|SATB2_ENST00000457245.1_Missense_Mutation_p.G71V|SATB2_ENST00000260926.5_Missense_Mutation_p.G71V|SATB2_ENST00000443023.1_Intron	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	71						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.G71V(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCAAGAGAGCCGTCCAACTG	0.473000													63	157					6.25564e-26	9.16609e-26	1	1	0
OR5T3	390154	broad.mit.edu	37	11	56020456	56020456	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:56020456G>C	ENST00000303059.3	+	1	781	c.781G>C	c.(781-783)Gct>Cct	p.A261P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A261P(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GATGCATTCTGCTAAGGGAAG	0.408000													181	489					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64824289	64824289	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:64824289T>C	ENST00000396679.1	-	9	801	c.587A>G	c.(586-588)aAa>aGa	p.K196R	CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000508421.1_Missense_Mutation_p.K166R|CENPK_ENST00000242872.3_Missense_Mutation_p.K196R|CENPK_ENST00000514814.1_Missense_Mutation_p.K196R|CENPK_ENST00000510693.1_Missense_Mutation_p.K133R	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	196					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		p.K196R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		CTTTTTCTTTTTAACACTTCT	0.284000													17	34					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030031	95030031	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:95030031C>A	ENST00000557004.1	+	2	633	c.212C>A	c.(211-213)cCg>cAg	p.P71Q	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.P71Q|SERPINA4_ENST00000555095.1_Missense_Mutation_p.P71Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	71					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.P71Q(3)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCGGAGACCCCGGGGAAGAAC	0.607000													82	143					4.85238e-36	7.81944e-36	1	1	0
FHOD3	80206	broad.mit.edu	37	18	34349242	34349242	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:34349242T>A	ENST00000257209.4	+	24	4212	c.4090T>A	c.(4090-4092)Tgg>Agg	p.W1364R	FHOD3_ENST00000445677.1_Missense_Mutation_p.W1326R|FHOD3_ENST00000592128.1_Missense_Mutation_p.W343R|FHOD3_ENST00000590592.1_Missense_Mutation_p.W1547R|FHOD3_ENST00000591635.1_Missense_Mutation_p.W560R|FHOD3_ENST00000359247.4_Missense_Mutation_p.W1347R	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1347	DAD.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.W1364R(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTAGTTCCTGGACTATGGG	0.473000													60	93					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31309152	31309152	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:31309152G>T	ENST00000544665.3	+	14	1658	c.1587G>T	c.(1585-1587)ggG>ggT	p.G529G	ITGAM_ENST00000287497.8_Silent_p.G528G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	528					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.G528G(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAGTGCTGGGGGACGTAAATG	0.607000													148	495					4.65207e-85	9.00744e-85	1	1	0
HHIPL1	84439	broad.mit.edu	37	14	100118631	100118631	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:100118631G>T	ENST00000330710.5	+	2	424	c.326G>T	c.(325-327)gGg>gTg	p.G109V	HHIPL1_ENST00000357223.2_Missense_Mutation_p.G109V	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	109					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	p.G109V(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACGGTGCCCGGGCTCTGCCAG	0.612000													14	35					5.26018e-13	6.5024e-13	1	1	0
DGKG	1608	broad.mit.edu	37	3	185986600	185986600	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:185986600C>G	ENST00000265022.3	-	12	1645	c.1106G>C	c.(1105-1107)tGc>tCc	p.C369S	DGKG_ENST00000344484.4_Missense_Mutation_p.C369S|DGKG_ENST00000382164.4_Intron|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	369					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.C369S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGTCATCCGGCACCACACGCA	0.607000													25	44					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329238	88329238	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:88329238G>T	ENST00000325089.6	+	2	1814	c.1595G>T	c.(1594-1596)aGg>aTg	p.R532M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R291M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	532						integral to membrane		p.R532M(2)		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)					ACCCTCCTCAGGCTAAACCTG	0.527000													20	31					2.4624e-09	2.8147e-09	1	1	0
SLC16A7	9194	broad.mit.edu	37	12	60098636	60098636	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:60098636G>C	ENST00000261187.4	+	2	218	c.54G>C	c.(52-54)tgG>tgC	p.W18C	SLC16A7_ENST00000549465.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000552024.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000547379.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000552432.1_Missense_Mutation_p.W18C	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	18						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.W18C(2)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATGGAGGATGGGGTTGGATTG	0.433000													27	41					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42537630	42537630	+	RNA	SNP	C	C	G	rs139038830	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:42537630C>G	ENST00000435101.1	-	0	108				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						GAACAGGTTACCCACCACTAT	0.612000													4	38					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64483301	64483301	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:64483301G>T	ENST00000358025.3	+	33	5069	c.4839G>T	c.(4837-4839)gaG>gaT	p.E1613D	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E1613D|SYNE2_ENST00000554584.1_Missense_Mutation_p.E1613D	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1613					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E1613D(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTTTGAAGAGCCCCCTTTTG	0.284000													6	13					2.7689e-08	3.12737e-08	1	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768509	31768509	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:31768509C>T	ENST00000355459.2	+	1	118	c.105C>T	c.(103-105)gtC>gtT	p.V35V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	35						intermediate filament		p.V35V(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAACCAGGTCTACAGCACTG	0.602000													79	254					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													10	51					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99772348	99772348	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:99772348A>T	ENST00000370185.3	+	7	2571	c.2074A>T	c.(2074-2076)Agc>Tgc	p.S692C	LPPR4_ENST00000457765.1_Missense_Mutation_p.S634C|LPPR4_ENST00000370184.1_Missense_Mutation_p.S534C	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		692							phosphatidate phosphatase activity	p.S692C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAACATTGATAGCAATGAGCA	0.507000													21	79					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151904	158151904	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:158151904A>T	ENST00000368171.3	+	4	910	c.411A>T	c.(409-411)caA>caT	p.Q137H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	137					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.Q137H(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TAGCATTTCAAGGAAAAGATA	0.512000													115	375					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851501	61851501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:61851501C>A	ENST00000577390.1	-	7	2113	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*	CDH8_ENST00000577730.1_Nonsense_Mutation_p.E387*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.E387*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.E387*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	387	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E387Q(2)|p.E387*(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACCGGAGGCTCATCAGCATCT	0.498000													142	214					1.59857e-72	3.0107e-72	1	1	0
INSL4	3641	broad.mit.edu	37	9	5231684	5231684	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:5231684C>T	ENST00000239316.4	+	1	266	c.161C>T	c.(160-162)cCa>cTa	p.P54L		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	54					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	p.P54L(2)		endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		ACCACCACCCCAGGAGGGTGG	0.527000													89	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179427841	179427841	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179427841G>A	ENST00000589042.1	-	326	83242	c.83018C>T	c.(83017-83019)cCa>cTa	p.P27673L	TTN_ENST00000342992.6_Missense_Mutation_p.P25105L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18800L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18733L|TTN_ENST00000460472.2_Missense_Mutation_p.P18608L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P26032L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26032	Fibronectin type-III 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P18800L(2)|p.P25105L(2)|p.P18733L(2)|p.P25103L(2)|p.P18608L(2)		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)			TTCTATTTCTGGTGGCTCTAT	0.463000													116	320					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7805036	7805036	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:7805036A>G	ENST00000303635.7	+	17	4531	c.4324A>G	c.(4324-4326)Agt>Ggt	p.S1442G	CAMTA1_ENST00000476864.1_Missense_Mutation_p.S6G|CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1442G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S1442G(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGGCTGGCCAGTTATCTAGC	0.517000			T	WWTR1	epitheliod hemangioendothelioma								39	123					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631817	122631817	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:122631817G>T	ENST00000195173.4	-	18	2898	c.2595C>A	c.(2593-2595)tcC>tcA	p.S865S	SEMA5B_ENST00000357599.3_Silent_p.S866S|SEMA5B_ENST00000451055.2_Silent_p.S920S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	866	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.S920S(3)|p.S866S(3)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGCAGTCCCGGGAGCAGGACG	0.741000													6	5					3.59834e-05	3.89051e-05	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228509335	228509335	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:228509335G>C	ENST00000570156.2	+	66	17738	c.17664G>C	c.(17662-17664)tgG>tgC	p.W5888C	OBSCN_ENST00000422127.1_Missense_Mutation_p.W4931C|OBSCN_ENST00000366707.4_Missense_Mutation_p.W2565C|OBSCN_ENST00000366709.4_Missense_Mutation_p.W2050C|OBSCN_ENST00000284548.11_Missense_Mutation_p.W4931C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4931					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.W5513C(2)|p.W4931C(2)|p.W5643C(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCCCGCTGGCTGAAGGATG	0.637000													10	22					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840994	150840994	+	Missense_Mutation	SNP	G	G	T	rs147522572	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:150840994G>T	ENST00000370357.4	+	14	2022	c.1777G>T	c.(1777-1779)Gta>Tta	p.V593L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	593						nucleus	signal transducer activity	p.V593L(4)		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)					CCCACGTGACGTATCTGTGCC	0.527000													88	168					9.98844e-40	1.65529e-39	1	1	0
FGB	2244	broad.mit.edu	37	4	155487128	155487128	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:155487128T>A	ENST00000302068.4	+	2	346	c.283T>A	c.(283-285)Tgt>Agt	p.C95S	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	95			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.C95S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGCTGGAGGCTGTCTTCACGC	0.552000													25	87					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745991	77745991	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:77745991C>A	ENST00000409088.3	-	3	1418	c.1004G>T	c.(1003-1005)aGc>aTc	p.S335I	LRRTM4_ENST00000409282.1_Missense_Mutation_p.S336I|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S335I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S336I|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S335I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	335	LRRCT.					integral to membrane		p.S335I(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TATCATGGTGCTTTCCTTATT	0.393000													4	29					0.00909568	0.00926661	1	1	0
GPC4	2239	broad.mit.edu	37	X	132439938	132439938	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:132439938C>A	ENST00000370828.3	-	6	1541	c.1017G>T	c.(1015-1017)caG>caT	p.Q339H	GPC4_ENST00000535467.1_Missense_Mutation_p.Q269H	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	339					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Q339H(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTCCACATCCCTGGAAAACCT	0.582000													230	328					3.33386e-110	6.57246e-110	1	1	0
ZFAND2B	130617	broad.mit.edu	37	2	220073185	220073185	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:220073185G>A	ENST00000409097.1	+	7	622	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V189M|ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V189M|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.V189M|ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V189M			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	189						endoplasmic reticulum	protein binding|zinc ion binding	p.V189M(2)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCCTCCAGTGATTGCTTT	0.542000													11	57					0	0	1	0	0
MFAP4	4239	broad.mit.edu	37	17	19288711	19288711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:19288711G>T	ENST00000395592.2	-	4	440	c.369C>A	c.(367-369)taC>taA	p.Y123*	MFAP4_ENST00000497081.2_Nonsense_Mutation_p.Y124*|MFAP4_ENST00000299610.4_Nonsense_Mutation_p.Y99*	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	99	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding	p.Y123*(2)|p.Y99*(2)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCCCAGCTTGTAGTCATTCC	0.572000													16	38					1.01871e-10	1.19876e-10	1	1	0
SALL4	57167	broad.mit.edu	37	20	50407691	50407691	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:50407691T>A	ENST00000217086.4	-	2	1442	c.1331A>T	c.(1330-1332)gAg>gTg	p.E444V	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	444					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E444V(2)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCTGGAACTCGGCAAACAG	0.552000													27	30					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176998824	176998824	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:176998824C>G	ENST00000367654.2	-	5	1079	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D356H|ASTN1_ENST00000367657.3_Missense_Mutation_p.D356H|ASTN1_ENST00000361833.2_Missense_Mutation_p.D356H			O14525	ASTN1_HUMAN	astrotactin 1	356					cell migration|neuron cell-cell adhesion	integral to membrane		p.D356H(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCTGGGGGTCGTTTTCTGCC	0.507000													23	57					0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86559805	86559805	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:86559805T>A	ENST00000376344.3	-	3	913	c.697A>T	c.(697-699)Agt>Tgt	p.S233C	C9orf64_ENST00000314700.1_Missense_Mutation_p.S92C	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	233								p.S233C(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATGGTGATACTGGAGATGTCC	0.428000													13	75					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345155	5345155	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:5345155G>T	ENST00000328813.2	-	1	427	c.373C>A	c.(373-375)Cgc>Agc	p.R125S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R125S(2)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGATTGCGGATGGCAATG	0.453000													94	150					4.60726e-43	7.91156e-43	1	1	0
OR13H1	347468	broad.mit.edu	37	X	130678094	130678094	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:130678094G>T	ENST00000338616.3	+	1	145	c.47G>T	c.(46-48)gGc>gTc	p.G16V		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(2)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CTCCTTATTGGCATTTCTAAC	0.383000													275	725					1.05304e-135	2.10886e-135	1	1	0
FSTL1	11167	broad.mit.edu	37	3	120129820	120129820	+	Missense_Mutation	SNP	C	C	T	rs149509930		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:120129820C>T	ENST00000295633.3	-	5	666	c.310G>A	c.(310-312)Gta>Ata	p.V104I	FSTL1_ENST00000424703.2_Missense_Mutation_p.V69I	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	104					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	p.V104I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GATGGACTTACGGATTTCTTC	0.393000													7	130					0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164466875	164466875	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:164466875G>T	ENST00000503008.1	-	7	1420	c.444C>A	c.(442-444)acC>acA	p.T148T	MARCH1_ENST00000339875.5_Silent_p.T131T|MARCH1_ENST00000514618.1_Silent_p.T404T|MARCH1_ENST00000274056.7_Silent_p.T148T	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	148					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T148T(2)|p.T131T(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTCACTTGTGGTCATCTGTA	0.423000													112	343					3.45943e-77	6.66423e-77	1	1	0
OLFML1	283298	broad.mit.edu	37	11	7531356	7531356	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:7531356C>A	ENST00000329293.3	+	3	1540	c.1146C>A	c.(1144-1146)gcC>gcA	p.A382A	OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Silent_p.A382A	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	382	Olfactomedin-like.					extracellular region		p.A382A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGCTCTATGCCTGGAATGAAG	0.463000													20	28					0.000295444	0.000313187	1	1	0
GJA1	2697	broad.mit.edu	37	6	121768935	121768935	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:121768935T>G	ENST00000282561.3	+	2	1099	c.942T>G	c.(940-942)agT>agG	p.S314R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	314					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.S314R(2)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTAATTACAGTGCAGAACAAA	0.458000													78	176					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153227748	153227748	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:153227748G>A	ENST00000310441.7	-	5	1688	c.722C>T	c.(721-723)aCg>aTg	p.T241M	HCFC1_ENST00000354233.3_Missense_Mutation_p.T241M|HCFC1_ENST00000369984.4_Missense_Mutation_p.T241M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	241					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.T142M(2)|p.T241M(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTATTCCACGTCAGGGTGTC	0.567000													3	12					0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21768283	21768283	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:21768283C>G	ENST00000276420.4	-	4	777	c.519G>C	c.(517-519)cgG>cgC	p.R173R	DOK2_ENST00000544659.1_Silent_p.R19R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	173	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.R173R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCTCCCCAGCCCGGAGGGTAT	0.642000													3	7					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246771	80246771	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:80246771G>T	ENST00000286794.4	-	1	433	c.261C>A	c.(259-261)gcC>gcA	p.A87A		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	87	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.A87A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCAGCTTCTGGGCCAGGCCGA	0.577000													32	78					3.11337e-16	4.06721e-16	1	1	0
CYP11B2	1585	broad.mit.edu	37	8	143994002	143994002	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:143994002G>T	ENST00000323110.2	-	8	1344	c.1342C>A	c.(1342-1344)Cgc>Agc	p.R448S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	448					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.R448S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGGCACTGGCGCATGCCAAAG	0.682000									Familial Hyperaldosteronism type I				22	113					2.12542e-12	2.58524e-12	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9063152	9063152	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:9063152C>A	ENST00000382496.5	-	18	3030	c.2365G>T	c.(2365-2367)Gcc>Tcc	p.A789S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	789	TSP type-1 5.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.A789S(2)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GACGTCCAGGCTGACCAAGCC	0.582000													8	60					1.12685e-05	1.22885e-05	1	1	0
PRDM14	63978	broad.mit.edu	37	8	70981552	70981552	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:70981552G>T	ENST00000276594.2	-	2	745	c.544C>A	c.(544-546)Ccc>Acc	p.P182T		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P182T(2)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GAGGGTTTGGGACCATCCTCT	0.577000													4	10					0.00909568	0.00926661	1	1	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217055	53217055	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:53217055G>T	ENST00000342657.3	+	7	1501	c.428G>T	c.(427-429)gGc>gTc	p.G143V	HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.G143V|HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.G143V	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	143	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	p.G143V(2)		cervix(1)|large_intestine(1)|lung(5)	7						CGAGGCAGTGGCAAGAAAAGG	0.408000													54	79					1.22119e-34	1.95545e-34	1	1	0
SERPINB2	5055	broad.mit.edu	37	18	61570386	61570386	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:61570386G>T	ENST00000457692.1	+	9	1428	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	SERPINB2_ENST00000299502.4_Missense_Mutation_p.E365D	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	365					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.E365D(2)		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)	TGAATGAGGAGGGCACTGAAG	0.502000													61	95					2.23399e-28	3.35763e-28	1	1	0
SALL1	6299	broad.mit.edu	37	16	51173730	51173730	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:51173730G>T	ENST00000440970.1	-	2	2543	c.2112C>A	c.(2110-2112)agC>agA	p.S704R	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S801R	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	801					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S801R(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACTCAGAGTAGCTGTCGGGGA	0.512000													118	196					8.58103e-55	1.80545e-54	0.870114	1	0
PIK3R3	8503	broad.mit.edu	37	1	46521524	46521524	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:46521524A>G	ENST00000262741.5	-	7	1573	c.884T>C	c.(883-885)aTg>aCg	p.M295T	PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000372006.1_Missense_Mutation_p.M295T|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M341T|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000420542.1_Missense_Mutation_p.M295T|PIK3R3_ENST00000423209.1_Intron	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	295					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	p.M295T(2)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GATGCTATTCATTTTTTTATC	0.428000													33	124					0	0	0.788014	0	0
MFSD4	148808	broad.mit.edu	37	1	205538353	205538353	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:205538353G>C	ENST00000367147.4	+	1	249	c.156G>C	c.(154-156)caG>caC	p.Q52H	MFSD4_ENST00000539267.1_Missense_Mutation_p.Q52H|MFSD4_ENST00000536357.1_Missense_Mutation_p.Q52H	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	52					transmembrane transport	integral to membrane		p.Q52H(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CGCTGCCCCAGATCTCCTGGG	0.672000													5	10					0	0	0.248553	0	0
ABCA10	10349	broad.mit.edu	37	17	67190582	67190582	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:67190582C>A	ENST00000269081.4	-	13	2198	c.1289G>T	c.(1288-1290)gGa>gTa	p.G430V	ABCA10_ENST00000416101.2_Missense_Mutation_p.G430V	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	430	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.G430V(2)		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)					TTTACCAGCTCCATTATGCCC	0.333000													24	119					1.66031e-10	2.13005e-10	0.667858	1	0
COL12A1	1303	broad.mit.edu	37	6	75899098	75899098	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:75899098C>A	ENST00000322507.8	-	7	968		c.e7-1		COL12A1_ENST00000483888.2_Splice_Site|COL12A1_ENST00000416123.2_Splice_Site|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.?(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGGCATCCCCTAAAGGGAAA	0.328000													20	53					8.10497e-08	9.4598e-08	0.592651	1	0
DNAH8	1769	broad.mit.edu	37	6	38758175	38758175	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:38758175A>G	ENST00000359357.3	+	18	2378	c.2124A>G	c.(2122-2124)ttA>ttG	p.L708L	DNAH8_ENST00000441566.1_Silent_p.L708L|DNAH8_ENST00000449981.2_Silent_p.L925L					dynein, axonemal, heavy chain 8									p.L708L(4)		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						ATCAACTTTTAAAGAAGGTAT	0.313000													20	40					0	0	0.557998	0	0
HGF	3082	broad.mit.edu	37	7	81388081	81388081	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:81388081C>A	ENST00000222390.5	-	3	520	c.294G>T	c.(292-294)tgG>tgT	p.W98C	HGF_ENST00000444829.2_Missense_Mutation_p.W98C|HGF_ENST00000423064.2_Missense_Mutation_p.W98C|HGF_ENST00000457544.2_Missense_Mutation_p.W98C|HGF_ENST00000354224.6_Missense_Mutation_p.W98C|HGF_ENST00000453411.1_Missense_Mutation_p.W98C|HGF_ENST00000453018.1_5'UTR	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	98	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.W98C(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGAAGGGGAACCAGAGGCATT	0.323000													22	115					5.26018e-13	7.51862e-13	0.608945	1	0
BCL11A	53335	broad.mit.edu	37	2	60773198	60773198	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:60773198G>T	ENST00000335712.6	-	2	520	c.293C>A	c.(292-294)cCc>cAc	p.P98H	BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000359629.5_Missense_Mutation_p.P98H|BCL11A_ENST00000358510.4_Missense_Mutation_p.P98H|BCL11A_ENST00000356842.4_Missense_Mutation_p.P98H|BCL11A_ENST00000538214.1_Missense_Mutation_p.P98H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	98	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.P98H(6)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AACCTCCACGGGATTGGATGC	0.473000			T	IGH@	B-CLL								41	126					3.09479e-21	5.30823e-21	0.827153	1	0
IGHV4-61	28391	broad.mit.edu	37	14	107095455	107095455	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:107095455G>T	ENST00000390630.2	-	0	147																											GAGACCCACAGTGAGCCCTGG	0.622000													16	33					6.72482e-11	8.75559e-11	0.479597	1	0
PSMD11	5717	broad.mit.edu	37	17	30800864	30800864	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:30800864C>T	ENST00000261712.3	+	7	952	c.689C>T	c.(688-690)tCa>tTa	p.S230L	PSMD11_ENST00000457654.2_Missense_Mutation_p.S230L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	230	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	p.S230L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			ACTGCGTACTCATACTTCTAT	0.413000													40	134					0	0	0.834066	0	0
SCGN	10590	broad.mit.edu	37	6	25669751	25669751	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:25669751T>A	ENST00000377961.2	+	5	517	c.349T>A	c.(349-351)Tat>Aat	p.Y117N	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	117	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding	p.Y117N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTGGCGCAAATATGACGCTGA	0.398000													31	92					0	0	0.760397	0	0
CD8A	925	broad.mit.edu	37	2	87017643	87017643	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:87017643G>C	ENST00000409511.2	-	5	1241	c.211C>G	c.(211-213)Cta>Gta	p.L71V	CD8A_ENST00000283635.3_Missense_Mutation_p.L71V|CD8A_ENST00000352580.3_Missense_Mutation_p.L71V|CD8A_ENST00000538832.1_Missense_Mutation_p.L112V|CD8A_ENST00000456996.2_Missense_Mutation_p.L71V|CD8A_ENST00000409781.1_Missense_Mutation_p.L71V	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	71	Ig-like V-type.				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	p.L71V(2)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GAGAGGTATAGGAGGAAGGTG	0.667000													30	107					0	0	0.779181	0	0
CACNA2D1	781	broad.mit.edu	37	7	81978919	81978919	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:81978919C>A	ENST00000356860.3	-	2	480	c.142G>T	c.(142-144)Gca>Tca	p.A48S	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A48S|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A48S	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	48						voltage-gated calcium channel complex	metal ion binding	p.A48S(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCTGTTTTTGCCAGTGTGACA	0.358000													54	197					2.44813e-32	4.84105e-32	0.870114	1	0
FRMPD1	22844	broad.mit.edu	37	9	37744666	37744666	+	Silent	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:37744666A>C	ENST00000539465.1	+	16	3230	c.2637A>C	c.(2635-2637)gcA>gcC	p.A879A	FRMPD1_ENST00000377765.3_Silent_p.A879A|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	879						cytoskeleton|cytosol|plasma membrane		p.A879A(1)		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)		CCCTTGGTGCACCCTCCCCAA	0.607000													13	69					0	0	0.500413	0	0
RAD54B	25788	broad.mit.edu	37	8	95412526	95412526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:95412526C>T	ENST00000336148.5	-	7	1234	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*		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	p.W370*(2)		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)			ATTCTTTCTTCCAATTATTCA	0.378000								Direct reversal of damage;Homologous recombination					42	71					0	0	0.840704	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72027129	72027129	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:72027129T>C	ENST00000378743.3	-	13	2958	c.2600A>G	c.(2599-2601)aAg>aGg	p.K867R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	867					RNA processing	intracellular	metal ion binding	p.K867R(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTAATCTTTGCTTCAGC	0.289000													10	21					0	0	0.335167	0	0
LRP1B	53353	broad.mit.edu	37	2	141459809	141459809	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:141459809T>C	ENST00000389484.3	-	39	7174	c.6203A>G	c.(6202-6204)gAc>gGc	p.D2068G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2068					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2068G(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCTCAAGGTCGATTCTCTC	0.413000										TSP Lung(27;0.18)			43	95					0	0	0.870114	0	0
PAPPA	5069	broad.mit.edu	37	9	118969862	118969862	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:118969862G>A	ENST00000328252.3	+	3	1975	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	536	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.E536K(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATGGGACAAGGAGGCCCTGAT	0.433000													42	56					0	0	0.853193	0	0
OR1D5	8386	broad.mit.edu	37	17	2966145	2966145	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:2966145C>A	ENST00000575751.1	-	1	756	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(4)		kidney(1)|lung(10)	11						GCAAGCGTCCCATAAAAGAGG	0.498000													23	87					3.5997e-14	5.28894e-14	0.624587	1	0
KCNH3	23416	broad.mit.edu	37	12	49949578	49949578	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:49949578G>A	ENST00000257981.6	+	12	2572	c.2312G>A	c.(2311-2313)cGt>cAt	p.R771H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	771					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.R771H(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTATCCCCACGTCGAACAGCA	0.697000													20	26					0	0	0.654019	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235237	137235237	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:137235237C>T	ENST00000508638.1	+	5	612	c.557C>T	c.(556-558)cCt>cTt	p.P186L	PKD2L2_ENST00000502810.1_Missense_Mutation_p.P186L|PKD2L2_ENST00000290431.5_Missense_Mutation_p.P186L|PKD2L2_ENST00000350250.4_Missense_Mutation_p.P152L|PKD2L2_ENST00000508883.1_Missense_Mutation_p.P186L	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	186						integral to membrane	calcium ion binding|ion channel activity	p.P186L(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCAACTCCCCTTGGCACTGG	0.353000													36	51					0	0	0.812448	0	0
FAM222B	55731	broad.mit.edu	37	17	27093631	27093631	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:27093631T>A	ENST00000341217.5	-	2	270	c.55A>T	c.(55-57)Acg>Tcg	p.T19S	FAM222B_ENST00000583522.1_Missense_Mutation_p.T19S|FAM222B_ENST00000577682.1_Missense_Mutation_p.T19S|FAM222B_ENST00000452648.3_Missense_Mutation_p.T19S|FAM222B_ENST00000582059.1_Missense_Mutation_p.T19S|FAM222B_ENST00000581381.1_Missense_Mutation_p.T19S|FAM222B_ENST00000582266.1_Missense_Mutation_p.T19S|FAM222B_ENST00000583953.1_Missense_Mutation_p.T19S|FAM222B_ENST00000581407.1_Missense_Mutation_p.T19S	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	19								p.T19S(4)|p.T19A(1)									TTCATCTGCGTGTGAGAAAGA	0.478000													8	17					0	0	0.307466	0	0
FMN2	56776	broad.mit.edu	37	1	240255646	240255646	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:240255646G>T	ENST00000319653.9	+	1	467	c.237G>T	c.(235-237)cgG>cgT	p.R79R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	79					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.R222R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCAACCTGCGGATCAGGAAGA	0.662000													10	41					4.3838e-07	4.99108e-07	0.435327	1	0
FERD3L	222894	broad.mit.edu	37	7	19184711	19184711	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:19184711G>T	ENST00000275461.3	-	1	333	c.275C>A	c.(274-276)cCc>cAc	p.P92H	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P92H(3)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTTCCTCTTGGGGCGGCCTAA	0.617000													11	46					0.0135373	0.0138533	0.411799	1	0
FLG	2312	broad.mit.edu	37	1	152277375	152277375	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:152277375G>C	ENST00000368799.1	-	3	10022	c.9987C>G	c.(9985-9987)gaC>gaG	p.D3329E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3329	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D3329E(2)		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)			AGTGTCTACTGTCTCTGACTG	0.572000									Ichthyosis				296	813					0	0	0.870114	0	0
CTRB2	440387	broad.mit.edu	37	16	75238132	75238132	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:75238132G>T	ENST00000303037.8	-	7	762	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	240	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	p.T240N(2)		endometrium(1)|large_intestine(1)|lung(2)	4						GGGCGTGGTGGTAGAGCAGGT	0.667000													29	100					1.16021e-09	1.43706e-09	0.717897	1	0
RYR1	6261	broad.mit.edu	37	19	38976573	38976573	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:38976573C>A	ENST00000355481.4	+	34	5409	c.5278C>A	c.(5278-5280)Cat>Aat	p.H1760N	RYR1_ENST00000360985.3_Missense_Mutation_p.H1760N|RYR1_ENST00000359596.3_Missense_Mutation_p.H1760N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1760	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.H1760N(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACCCCCGGCATGGCCTGCC	0.642000													14	65					0.00244969	0.00254317	0.457914	1	0
ZMAT1	84460	broad.mit.edu	37	X	101153123	101153123	+	Translation_Start_Site	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:101153123T>A	ENST00000458570.1	-	0	492				ZMAT1_ENST00000372782.3_Missense_Mutation_p.K100M|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K100M			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1							nucleus	zinc ion binding	p.K100M(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTTCATTTTCTTACCAGGCAC	0.318000													20	39					0	0	0.608945	0	0
ASCC3	10973	broad.mit.edu	37	6	101095256	101095256	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:101095256C>A	ENST00000369162.2	-	21	3668	c.3324G>T	c.(3322-3324)agG>agT	p.R1108S		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1108	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R1108S(2)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GATTCAGGAGCCTGTAGGTCA	0.428000													43	49					9.84934e-19	1.61899e-18	0.853193	1	0
KCNK10	54207	broad.mit.edu	37	14	88658607	88658607	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:88658607C>A	ENST00000340700.5	-	5	1265	c.814G>T	c.(814-816)Gtc>Ttc	p.V272F	KCNK10_ENST00000319231.5_Missense_Mutation_p.V277F|KCNK10_ENST00000312350.5_Missense_Mutation_p.V277F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	272					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.V277F(4)|p.V272F(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GTCAGAGTGACCACCACAAAG	0.542000													30	133					1.74807e-11	2.32193e-11	0.750413	1	0
BTBD11	121551	broad.mit.edu	37	12	108042981	108042981	+	Splice_Site	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:108042981A>T	ENST00000280758.5	+	15	3450		c.e15-1		BTBD11_ENST00000420571.2_Splice_Site|BTBD11_ENST00000357167.4_Splice_Site|BTBD11_ENST00000494235.2_Splice_Site|BTBD11_ENST00000490090.2_Splice_Site	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11							integral to membrane	DNA binding	p.?(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GTTTTCTTCCAGCTGGTTATG	0.468000													57	59					0	0	0.870114	0	0
TNRC6A	27327	broad.mit.edu	37	16	24817548	24817548	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:24817548A>G	ENST00000395799.3	+	16	4402	c.4273A>G	c.(4273-4275)Agg>Ggg	p.R1425G	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1376G	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1425					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.R1425G(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCAGCAGCAAAGGGCGCAGAG	0.512000													25	94					0	0	0.693898	0	0
CNTN1	1272	broad.mit.edu	37	12	41422935	41422935	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:41422935C>G	ENST00000551295.2	+	23	3011	c.2894C>G	c.(2893-2895)cCa>cGa	p.P965R	CNTN1_ENST00000348761.2_Missense_Mutation_p.P954R|CNTN1_ENST00000347616.1_Missense_Mutation_p.P965R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	965	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.P965R(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATAGAAGTCCCAATCCCCAGA	0.448000													70	147					0	0	0.870114	0	0
CSMD1	64478	broad.mit.edu	37	8	2808659	2808659	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:2808659G>T	ENST00000520002.1	-	67	10736	c.10181C>A	c.(10180-10182)tCg>tAg	p.S3394*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S3217*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S3394*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S3216*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S3217*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S3393*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3394						integral to membrane		p.S3122*(2)|p.S3393*(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCACTGGCGAGGCTTCGCT	0.458000													7	36					1.08611e-07	1.26206e-07	0.387290	1	0
OR2K2	26248	broad.mit.edu	37	9	114090287	114090287	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:114090287G>T	ENST00000374428.1	-	1	513	c.514C>A	c.(514-516)Cgg>Agg	p.R172R	OR2K2_ENST00000302681.1_Silent_p.R143R			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172R(2)|p.R143R(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTAGCCATCCGTGCACAGACG	0.547000													94	80					6.08224e-66	1.2935e-65	0.870114	1	0
ARHGAP5	394	broad.mit.edu	37	14	32560198	32560198	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:32560198G>C	ENST00000345122.3	+	2	638	c.323G>C	c.(322-324)cGg>cCg	p.R108P	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R108P|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R108P|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R108P|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	108					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.R108S(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGCCTCATCGGAGTACGAAT	0.378000													37	124					0	0	0.788014	0	0
OPN5	221391	broad.mit.edu	37	6	47759675	47759675	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:47759675G>T	ENST00000489301.2	+	3	473	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	OPN5_ENST00000393699.2_Missense_Mutation_p.D130Y|OPN5_ENST00000371211.2_Missense_Mutation_p.D130Y|OPN5_ENST00000244799.4_3'UTR			Q6U736	OPN5_HUMAN	opsin 5	130					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.D130Y(2)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTCAGCCTGGATCGATATTT	0.463000													25	53					2.21704e-12	3.096e-12	0.639603	1	0
AHDC1	27245	broad.mit.edu	37	1	27876408	27876408	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:27876408C>G	ENST00000374011.2	-	6	3187	c.2219G>C	c.(2218-2220)cGc>cCc	p.R740P	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.R740P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	740	Gly-rich.						DNA binding	p.R740P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCGTCTCTTGCGCTTTGGCTT	0.677000													18	69					0	0	0.575678	0	0
GHSR	2693	broad.mit.edu	37	3	172163026	172163026	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:172163026G>T	ENST00000241256.2	-	2	1068	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	342					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.P342P(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCTGGGAGAAGGGTTCGAATC	0.478000													59	199					2.47907e-22	4.31784e-22	0.870114	1	0
SEC23A	10484	broad.mit.edu	37	14	39556195	39556195	+	Silent	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:39556195A>C	ENST00000537403.1	-	2	1217	c.15T>G	c.(13-15)tcT>tcG	p.S5S	SEC23A_ENST00000545328.2_Silent_p.S178S|SEC23A_ENST00000536508.1_Silent_p.S81S|SEC23A_ENST00000307712.6_Silent_p.S207S			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	207					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	p.S207S(2)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTGGTACTTTAGAGAGCCCCA	0.363000													32	70					0	0	0.769981	0	0
MAP2K4	6416	broad.mit.edu	37	17	12044543	12044543	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:12044543C>T	ENST00000415385.3	+	12	1252	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L	MAP2K4_ENST00000353533.5_Missense_Mutation_p.P389L			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	389					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(2)|p.P389L(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATCAAATGCCAGCTACTCCC	0.408000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								24	58					0	0	0.654019	0	0
VAX1	11023	broad.mit.edu	37	10	118896117	118896117	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:118896117G>A	ENST00000277905.2	-	2	539	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	VAX1_ENST00000369206.5_Missense_Mutation_p.R99W	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	99						nucleus	sequence-specific DNA binding	p.R99W(4)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CTCTTAGGCCGGTCCAAGTCC	0.657000													9	58					0	0	0.387290	0	0
NR3C2	4306	broad.mit.edu	37	4	149356498	149356498	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:149356498C>A	ENST00000355292.3	-	2	1877	c.1515G>T	c.(1513-1515)gaG>gaT	p.E505D	NR3C2_ENST00000358102.3_Missense_Mutation_p.E505D|NR3C2_ENST00000511528.1_Missense_Mutation_p.E505D|NR3C2_ENST00000512865.1_Missense_Mutation_p.E505D|NR3C2_ENST00000344721.4_Missense_Mutation_p.E505D|NR3C2_ENST00000342437.4_Missense_Mutation_p.E505D			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	505	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.E505D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGATGCTGGCCTCTGGGTAAT	0.493000													40	136					2.75727e-19	4.56077e-19	0.804634	1	0
TRPA1	8989	broad.mit.edu	37	8	72968044	72968044	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:72968044C>G	ENST00000262209.4	-	11	1448	c.1241G>C	c.(1240-1242)tGt>tCt	p.C414S	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	414						integral to plasma membrane		p.C414S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TAGAGGAGTACACCCATCGTT	0.363000													10	64					0	0	0.457914	0	0
KIF18B	146909	broad.mit.edu	37	17	43004447	43004447	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:43004447C>A	ENST00000587309.1	-	14	2336		c.e14-1		KIF18B_ENST00000438933.2_Splice_Site|KIF18B_ENST00000593135.1_Splice_Site|KIF18B_ENST00000339151.4_Splice_Site|KIF18B_ENST00000590129.1_Splice_Site	NM_001264573.1	NP_001251503.1			kinesin family member 18B									p.?(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACAGGTGCCCTGGGGAGGGA	0.647000													11	31					5.16669e-11	6.73804e-11	0.387290	1	0
TENM4	26011	broad.mit.edu	37	11	78380866	78380866	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:78380866C>A	ENST00000278550.7	-	32	6986	c.6524G>T	c.(6523-6525)cGa>cTa	p.R2175L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.R2175L(4)|p.R2175Q(1)									CTTCACTACTCGCCCCATGTT	0.498000													15	46					1.15088e-07	1.3334e-07	0.500413	1	0
ZBBX	79740	broad.mit.edu	37	3	167031857	167031857	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:167031857C>A	ENST00000392766.2	-	16	1662	c.1322G>T	c.(1321-1323)gGc>gTc	p.G441V	ZBBX_ENST00000455345.2_Missense_Mutation_p.G441V|ZBBX_ENST00000392767.2_Missense_Mutation_p.G441V|ZBBX_ENST00000392764.1_Missense_Mutation_p.G412V|ZBBX_ENST00000307529.5_Missense_Mutation_p.G441V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	441						intracellular	zinc ion binding	p.G441V(4)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGATGGATGCCATTTTCATA	0.299000													23	108					6.44725e-10	8.03615e-10	0.624587	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856858	19856858	+	RNA	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:19856858A>T	ENST00000548109.1	+	0	72																											TGTCATCTACAGCACTCATTT	0.348000													4	62					0	0	0.150653	0	0
SYT12	91683	broad.mit.edu	37	11	66812117	66812117	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:66812117C>A	ENST00000393946.2	+	9	2053	c.891C>A	c.(889-891)gcC>gcA	p.A297A	SYT12_ENST00000525457.1_Silent_p.A297A|SYT12_ENST00000527043.1_Silent_p.A297A			Q8IV01	SYT12_HUMAN	synaptotagmin XII	297	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane		p.A297A(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TCCCCACAGCCGAGCGCCTCA	0.662000													29	93					6.38683e-12	8.71836e-12	0.729181	1	0
KRTAP19-6	337973	broad.mit.edu	37	21	31914063	31914063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:31914063G>T	ENST00000334046.5	-	1	120	c.90C>A	c.(88-90)taC>taA	p.Y30*		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	30						intermediate filament		p.Y30*(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						AGCCATATCTGTAGCCTCCAC	0.512000													40	116					4.13886e-29	7.88783e-29	0.870114	1	0
NUAK2	81788	broad.mit.edu	37	1	205290708	205290708	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:205290708C>G	ENST00000367157.3	-	1	175	c.49G>C	c.(49-51)Gca>Cca	p.A17P		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	17					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.A17P(2)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCTAGCTCTGCGGCCGAGGGA	0.677000													11	21					0	0	0.361761	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395930	47395930	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:47395930G>T	ENST00000310638.4	-	12	1448	c.1417C>A	c.(1417-1419)Ctg>Atg	p.L473M	CYP4A11_ENST00000371904.4_Missense_Mutation_p.L474M|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	473					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.L473M(2)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGCAGGGTCAGGGCCGTGGCC	0.542000													38	174					6.2361e-21	1.06731e-20	0.834066	1	0
SPPL2C	162540	broad.mit.edu	37	17	43922293	43922293	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:43922293C>T	ENST00000329196.5	+	1	38	c.21C>T	c.(19-21)ctC>ctT	p.L7L	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	7						integral to membrane	aspartic-type endopeptidase activity	p.L7L(2)									TGGGCTTCCTCCTCCCCGTGG	0.627000													19	74					0	0	0.557998	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713410	222713410	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:222713410C>A	ENST00000343410.6	-	4	1450	c.1392G>T	c.(1390-1392)tgG>tgT	p.W464C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	464					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.W464C(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCTTTGCTCTCCAGCCATAGT	0.488000													47	150					3.21987e-24	5.77381e-24	0.870114	1	0
SLC27A6	28965	broad.mit.edu	37	5	128324424	128324424	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:128324424C>A	ENST00000262462.4	+	3	1827	c.817C>A	c.(817-819)Ctg>Atg	p.L273M	SLC27A6_ENST00000395266.1_Missense_Mutation_p.L273M|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L273M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	273					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.L273M(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCAGCTATCCTGGGAATTTC	0.358000													69	170					6.52717e-41	1.33073e-40	0.870114	1	0
GIMAP8	155038	broad.mit.edu	37	7	150174417	150174417	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:150174417G>T	ENST00000307271.3	+	5	2121	c.1547G>T	c.(1546-1548)cGc>cTc	p.R516L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	516						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R516L(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAGGTCAAGCGCTGTTTGTCC	0.522000													29	71					2.48779e-11	3.28239e-11	0.693898	1	0
TEX13A	56157	broad.mit.edu	37	X	104465059	104465059	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:104465059G>C	ENST00000372578.3	-	2	134	c.23C>G	c.(22-24)cCc>cGc	p.P8R	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.P8R|TEX13A_ENST00000413579.1_Missense_Mutation_p.P8R|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	8						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCGCTACTGGGGTCCTCAGG	0.537000													18	21					0	0	0.557998	0	0
NLRC3	197358	broad.mit.edu	37	16	3613223	3613223	+	RNA	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:3613223T>A	ENST00000301749.7	-	0	2120				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	p.H619L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCAGCTCATGCAGGCAGTG	0.716000													3	9					0	0	0.115264	0	0
MXRA5	25878	broad.mit.edu	37	X	3248432	3248432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:3248432G>T	ENST00000217939.6	-	4	490	c.336C>A	c.(334-336)taC>taA	p.Y112*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	112						extracellular region		p.Y112*(4)		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)				TCAGCTTGTTGTAGCTGAACT	0.428000													7	13					8.12818e-05	8.73724e-05	0.248553	1	0
MAPK4	5596	broad.mit.edu	37	18	48248367	48248367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:48248367G>T	ENST00000400384.2	+	4	1787	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Nonsense_Mutation_p.E40*	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	251	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.E251*(2)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AATCCGGGAGGAAGACAAGGA	0.577000													14	62					0.00185496	0.00194364	0.435327	1	0
DOCK9	23348	broad.mit.edu	37	13	99520213	99520213	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:99520213T>C	ENST00000376460.1	-	29	3223	c.3143A>G	c.(3142-3144)tAc>tGc	p.Y1048C	DOCK9_ENST00000442173.1_Missense_Mutation_p.Y1048C|DOCK9_ENST00000339416.2_Missense_Mutation_p.Y1049C|DOCK9_ENST00000448493.2_Missense_Mutation_p.Y1060C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1049					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.Y1049C(2)|p.Y1060C(2)|p.Y1048C(2)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACAGCTAATGTAGTTGTTGAT	0.428000													13	14					0	0	0.435327	0	0
OR4A15	81328	broad.mit.edu	37	11	55136164	55136164	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55136164G>T	ENST00000314706.3	+	1	805	c.805G>T	c.(805-807)Gca>Tca	p.A269S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A269S(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTACACCTGTGCATCCCACGT	0.423000													69	232					6.75472e-32	1.32905e-31	0.870114	1	0
CYLD	1540	broad.mit.edu	37	16	50788335	50788335	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:50788335G>T	ENST00000540145.1	+	6	1328	c.913_splice	c.e6+1	p.A305_splice	CYLD_ENST00000569418.1_Splice_Site_p.E305_splice|CYLD_ENST00000398568.2_Splice_Site_p.E305_splice|CYLD_ENST00000311559.9_Splice_Site_p.A305_splice|CYLD_ENST00000427738.3_Splice_Site_p.A305_splice|CYLD_ENST00000568704.2_Splice_Site_p.E305_splice|CYLD_ENST00000564326.1_Splice_Site_p.E305_splice|CYLD_ENST00000566206.1_Splice_Site_p.E305_splice			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	305	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.A305S(2)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TATCATCCCAGGTATGTTTTC	0.328000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				31	44					3.99451e-17	6.30333e-17	0.740014	1	0
FARP2	9855	broad.mit.edu	37	2	242402803	242402803	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:242402803G>T	ENST00000264042.3	+	16	1901	c.1731G>T	c.(1729-1731)acG>acT	p.T577T	FARP2_ENST00000545004.1_Silent_p.T577T|FARP2_ENST00000373287.4_Silent_p.T577T	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	577	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.T577T(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CTCTGATGACGCTGCTCTTCT	0.597000													25	76					4.16121e-05	4.5037e-05	0.639603	1	0
SLC9C1	285335	broad.mit.edu	37	3	111870801	111870801	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:111870801G>T	ENST00000305815.5	-	28	3679	c.3427C>A	c.(3427-3429)Cac>Aac	p.H1143N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.H1095N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1143					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.H1143N(2)									GCGGCACTGTGTGCTCCATCC	0.522000													25	73					9.57634e-11	1.24272e-10	0.654019	1	0
C20orf26	26074	broad.mit.edu	37	20	20269349	20269349	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:20269349A>G	ENST00000245957.5	+	23	2969	c.2893A>G	c.(2893-2895)Acc>Gcc	p.T965A	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	965								p.T965A(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGTGATTGATACCAACTTCCA	0.433000													58	158					0	0	0.870114	0	0
CCDC112	153733	broad.mit.edu	37	5	114611088	114611088	+	Missense_Mutation	SNP	C	C	A	rs141845700		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:114611088C>A	ENST00000379611.5	-	6	1030	c.743G>T	c.(742-744)gGt>gTt	p.G248V	CCDC112_ENST00000395557.4_Missense_Mutation_p.G165V|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000506442.1_Missense_Mutation_p.G165V|CCDC112_ENST00000512261.1_Missense_Mutation_p.G165V	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	165								p.G248V(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ATCCCAGGCACCTTGTCGCCC	0.408000													55	139					1.86277e-20	3.1607e-20	0.870114	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125281944	125281944	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:125281944G>T	ENST00000431078.1	+	9	1753	c.1389G>T	c.(1387-1389)acG>acT	p.T463T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	463	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T463T(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCGCATCACGCTCACTCTGG	0.493000													23	77					3.62473e-10	4.554e-10	0.608945	1	0
FAT3	120114	broad.mit.edu	37	11	92620173	92620173	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:92620173G>A	ENST00000298047.6	+	24	12962	c.12945G>A	c.(12943-12945)ggG>ggA	p.G4315G	FAT3_ENST00000533797.1_Silent_p.G650G|FAT3_ENST00000409404.2_Silent_p.G4315G|FAT3_ENST00000525166.1_Silent_p.G4165G|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4315					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.G4315G(4)|p.G890G(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGACAAAGGGGTTGATGACC	0.493000										TCGA Ovarian(4;0.039)			8	14					0	0	0.278610	0	0
ATP7A	538	broad.mit.edu	37	X	77245130	77245130	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:77245130G>T	ENST00000341514.6	+	4	1167	c.1012G>T	c.(1012-1014)Gta>Tta	p.V338L	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.V338L	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	338	HMA 3.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.V338L(4)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AATAGAGGCTGTATCACCGGG	0.418000													171	114					7.43762e-64	1.57327e-63	0.870114	1	0
KCNC4	3749	broad.mit.edu	37	1	110754218	110754218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:110754218G>T	ENST00000369787.3	+	1	124	c.97G>T	c.(97-99)Gag>Tag	p.E33*	KCNC4_ENST00000413138.3_Nonsense_Mutation_p.E33*|KCNC4_ENST00000438661.2_Nonsense_Mutation_p.E33*	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	33					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E33*(4)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCAAGGGCGAGGCGTCGGA	0.627000													12	39					5.50884e-06	6.11318e-06	0.411799	1	0
FLYWCH2	114984	broad.mit.edu	37	16	2946482	2946482	+	Missense_Mutation	SNP	G	G	T	rs145971095		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:2946482G>T	ENST00000396958.3	+	3	412	c.32G>T	c.(31-33)gGt>gTt	p.G11V	FLYWCH2_ENST00000293981.6_Missense_Mutation_p.G11V|FLYWCH2_ENST00000572006.1_Missense_Mutation_p.G11V	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	11								p.G11F(2)		central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						GAGCAGGAGGGTGAGAGTGTG	0.657000													26	61					3.6726e-16	5.64851e-16	0.667858	1	0
WDR49	151790	broad.mit.edu	37	3	167322244	167322244	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:167322244G>T	ENST00000453925.2	-	2	141	c.107C>A	c.(106-108)gCa>gAa	p.A36E	WDR49_ENST00000479765.1_Missense_Mutation_p.A324E|WDR49_ENST00000308378.3_5'UTR			Q8IV35	WDR49_HUMAN	WD repeat domain 49	158										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTCTAAAGATGCATTGTAAGT	0.313000													14	49					4.3838e-07	4.99108e-07	0.435327	1	0
SLFN13	146857	broad.mit.edu	37	17	33768287	33768287	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:33768287C>G	ENST00000285013.6	-	6	2296	c.2021G>C	c.(2020-2022)cGt>cCt	p.R674P	SLFN13_ENST00000533791.1_Missense_Mutation_p.R674P|SLFN13_ENST00000534689.1_Missense_Mutation_p.R356P|SLFN13_ENST00000542635.1_Missense_Mutation_p.R674P|SLFN13_ENST00000526861.1_Missense_Mutation_p.R674P|SLFN13_ENST00000360502.2_Missense_Mutation_p.R356P	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	674						intracellular	ATP binding	p.R674P(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCTTCAGTACGGAAATTCTG	0.433000													55	169					0	0	0.870114	0	0
PAPPA	5069	broad.mit.edu	37	9	118982315	118982315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:118982315C>A	ENST00000328252.3	+	5	2387	c.2018C>A	c.(2017-2019)gCg>gAg	p.A673E	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	673					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.A673E(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGGAAACCAGCGCCTGTTGCC	0.572000													127	284					2.68169e-52	5.62728e-52	0.870114	1	0
SLC2A3	6515	broad.mit.edu	37	12	8075422	8075422	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:8075422C>A	ENST00000075120.7	-	9	1507	c.1267G>T	c.(1267-1269)Gct>Tct	p.A423S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	423					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.A423S(2)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CTTACAGCAGCGGAGGGGAAG	0.547000													23	63					6.44725e-10	8.03615e-10	0.624587	1	0
TRPV4	59341	broad.mit.edu	37	12	110232179	110232179	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:110232179C>A	ENST00000418703.2	-	7	1540	c.1446G>T	c.(1444-1446)atG>atT	p.M482I	TRPV4_ENST00000392719.2_Missense_Mutation_p.M435I|TRPV4_ENST00000537083.1_Missense_Mutation_p.M422I|TRPV4_ENST00000536838.1_Missense_Mutation_p.M448I|TRPV4_ENST00000541794.1_Missense_Mutation_p.M435I|TRPV4_ENST00000544971.1_Missense_Mutation_p.M375I|TRPV4_ENST00000261740.2_Missense_Mutation_p.M482I|TRPV4_ENST00000346520.2_Missense_Mutation_p.M422I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	482					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.M482I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGAAGATGACCATGGCACACA	0.632000													46	68					5.48756e-27	1.02115e-26	0.859065	1	0
SULF2	55959	broad.mit.edu	37	20	46313275	46313275	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:46313275C>A	ENST00000359930.4	-	6	1639	c.788G>T	c.(787-789)cGc>cTc	p.R263L	SULF2_ENST00000484875.1_Missense_Mutation_p.R263L|SULF2_ENST00000467815.1_Missense_Mutation_p.R263L|SULF2_ENST00000361612.4_Missense_Mutation_p.R263L|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	263					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.R263L(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCCCGTGTAGCGCATGATCCA	0.597000													19	54					1.50039e-11	1.99968e-11	0.608945	1	0
A2M	2	broad.mit.edu	37	12	9225296	9225296	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:9225296C>A	ENST00000318602.7	-	30	4235	c.3928G>T	c.(3928-3930)Ggg>Tgg	p.G1310W		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1310					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.G1310W(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTGTATTCCCCAGGCAGCTCT	0.517000													52	154					2.23044e-30	4.33452e-30	0.870114	1	0
OR4C6	219432	broad.mit.edu	37	11	55432926	55432926	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55432926G>C	ENST00000314259.3	+	1	313	c.284G>C	c.(283-285)tGc>tCc	p.C95S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95S(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAAAGGCTGCCTCACCCAG	0.527000													40	160					0	0	0.819951	0	0
KCNQ2	3785	broad.mit.edu	37	20	62044883	62044883	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:62044883G>C	ENST00000354587.3	-	13	1775	c.1599C>G	c.(1597-1599)ccC>ccG	p.P533P	KCNQ2_ENST00000359125.2_Silent_p.P561P|KCNQ2_ENST00000360480.3_Silent_p.P533P|KCNQ2_ENST00000370222.3_Silent_p.P533P|KCNQ2_ENST00000344462.3_Silent_p.P521P|KCNQ2_ENST00000370226.1_Silent_p.P531P|KCNQ2_ENST00000370224.1_Silent_p.P533P|KCNQ2_ENST00000359689.1_Silent_p.P561P|KCNQ2_ENST00000357249.2_Silent_p.P543P|KCNQ2_ENST00000430658.1_Silent_p.P530P			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	561					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P561P(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TCACGTCGTAGGGCCGCAGGC	0.652000													63	170					0	0	0.870114	0	0
MANBA	4126	broad.mit.edu	37	4	103553402	103553402	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:103553402C>T	ENST00000226578.4	-	17	2551	c.2452G>A	c.(2452-2454)Gac>Aac	p.D818N	MANBA_ENST00000505239.1_Missense_Mutation_p.D761N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	818					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.D818N(2)|p.D818H(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTCTCCAGGTCAAAAACAAAT	0.418000													34	113					0	0	0.750413	0	0
CAPN13	92291	broad.mit.edu	37	2	30955326	30955326	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:30955326C>A	ENST00000295055.8	-	20	2081	c.1905G>T	c.(1903-1905)ctG>ctT	p.L635L	CAPN13_ENST00000534090.2_Silent_p.L635L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	635					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.L635L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CAAGCCGCATCAGGAAGCAGA	0.607000													12	17					2.61681e-11	3.44111e-11	0.457914	1	0
PCBP3	54039	broad.mit.edu	37	21	47360037	47360037	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:47360037G>A	ENST00000400314.1	+	15	1341	c.1003G>A	c.(1003-1005)Ggg>Agg	p.G335R	PCBP3_ENST00000449640.1_Missense_Mutation_p.G335R|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.G325R|PCBP3_ENST00000400308.1_Missense_Mutation_p.G309R|PCBP3_ENST00000400309.1_Missense_Mutation_p.G334R|PCBP3_ENST00000400310.1_Missense_Mutation_p.G315R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	335	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.G303R(2)|p.G335R(2)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CGCCACGGAAGGGTCCTCAGA	0.527000													44	86					0	0	0.853193	0	0
RYR2	6262	broad.mit.edu	37	1	237713847	237713847	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:237713847G>T	ENST00000366574.2	+	27	3387	c.3070G>T	c.(3070-3072)Gta>Tta	p.V1024L	RYR2_ENST00000360064.6_Missense_Mutation_p.V1022L|RYR2_ENST00000542537.1_Missense_Mutation_p.V1008L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1024	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V1022L(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTGCAGGACGTAAAGAACAG	0.463000													5	13					0.014758	0.015044	0.184627	1	0
VPS36	51028	broad.mit.edu	37	13	53024666	53024666	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:53024666G>A	ENST00000378060.4	-	1	91	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	22	GLUE N-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.R22C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CGCACCCCGCGCTGCTGGATC	0.711000													19	17					0	0	0.608945	0	0
SDE2	163859	broad.mit.edu	37	1	226176062	226176062	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:226176062T>G	ENST00000272091.7	-	6	687	c.669A>C	c.(667-669)gcA>gcC	p.A223A	SDE2_ENST00000366817.1_Silent_p.A128A	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)									p.A223A(2)|p.A211A(2)									TGGACCCTTCTGCAGTCTCTA	0.473000													58	131					0	0	0.870114	0	0
COL9A3	1299	broad.mit.edu	37	20	61453144	61453144	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:61453144C>A	ENST00000343916.3	+	8	408	c.405C>A	c.(403-405)atC>atA	p.I135I		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	135	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.I135I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGGTGGGATCGGCCTCCGCG	0.697000													6	29					0.00116845	0.0012292	0.217242	1	0
IGHD	3495	broad.mit.edu	37	14	106311889	106311889	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:106311889G>A	ENST00000390556.2	-	0	121																											CCATGTACCAGGTGACAGTCA	0.562000													21	79					0	0	0.592651	0	0
POLR1B	84172	broad.mit.edu	37	2	113304689	113304689	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:113304689G>C	ENST00000263331.5	+	2	858	c.278G>C	c.(277-279)tGc>tCc	p.C93S	POLR1B_ENST00000417433.2_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.C131S|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.C93S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	93					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.C93S(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGGACCATCTGCAAAGAGGCC	0.458000													26	90					0	0	0.667858	0	0
SORCS3	22986	broad.mit.edu	37	10	106960961	106960961	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:106960961A>G	ENST00000369701.3	+	16	2438	c.2211A>G	c.(2209-2211)tcA>tcG	p.S737S	SORCS3_ENST00000369699.4_Silent_p.S23S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	737						integral to membrane	neuropeptide receptor activity	p.S737S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGACCACTCAGGATCAGTGG	0.493000													53	114					0	0	0.870114	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123170627	123170627	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:123170627C>A	ENST00000349780.4	-	31	4903	c.4724G>T	c.(4723-4725)aGa>aTa	p.R1575I	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1534I|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1575I|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1543I	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1575					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.R1575I(2)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAGTACCTCTCAGTCTCCT	0.562000													13	135					0.0202918	0.0206317	0.457914	1	0
AKAP17A	8227	broad.mit.edu	37	X	1719992	1719992	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:1719992G>T	ENST00000313871.3	+	5	1789	c.1593G>T	c.(1591-1593)gtG>gtT	p.V531V		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	531					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.V531V(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CCTGTCGTGTGGTCCCCGAGG	0.667000													6	47					3.59834e-05	3.91059e-05	0.217242	1	0
MEIS3	56917	broad.mit.edu	37	19	47910765	47910765	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:47910765G>T	ENST00000331559.5	-	9	1307	c.866C>A	c.(865-867)cCc>cAc	p.P289H	MEIS3_ENST00000561293.1_Missense_Mutation_p.P306H|MEIS3_ENST00000560253.1_Intron|MEIS3_ENST00000559524.1_Missense_Mutation_p.P306H|MEIS3_ENST00000558555.1_Intron|MEIS3_ENST00000561096.1_Intron|MEIS3_ENST00000441740.2_Intron	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	286						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P306H(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCGGGGTCCGGGGGATGGGGA	0.692000													14	23					0.0202918	0.0206317	0.457914	1	0
STK32C	282974	broad.mit.edu	37	10	134040330	134040330	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:134040330C>A	ENST00000368622.1	-	4	643	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	STK32C_ENST00000368625.4_Missense_Mutation_p.D218Y			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	205							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.D205Y(2)|p.D218Y(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CGCAGGTAGTCCAGAGCCAGT	0.642000													20	61					7.45023e-12	1.01174e-11	0.592651	1	0
ALB	213	broad.mit.edu	37	4	74283925	74283925	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:74283925G>C	ENST00000295897.4	+	12	1638	c.1549G>C	c.(1549-1551)Gtc>Ctc	p.V517L	ALB_ENST00000415165.2_Missense_Mutation_p.V325L|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.V517L|ALB_ENST00000401494.3_Missense_Mutation_p.V402L|ALB_ENST00000503124.1_Missense_Mutation_p.V367L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	517	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.V517L(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGCTCTGGAAGTCGATGAAAC	0.428000													42	128					0	0	0.859065	0	0
CELA2B	51032	broad.mit.edu	37	1	15809791	15809791	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:15809791C>A	ENST00000375910.3	+	5	414	c.389C>A	c.(388-390)cCc>cAc	p.P130H	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	130	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P130H(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CTGGCTAACCCCGTCTCCCTC	0.612000													29	94					2.81731e-10	3.56799e-10	0.750413	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128956400	128956400	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:128956400G>T	ENST00000274487.4	+	9	1695	c.1550G>T	c.(1549-1551)gGt>gTt	p.G517V	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	517	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G517V(2)		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)		CAGAATCTTGGTGACGTTTCA	0.418000													55	131					1.54886e-18	2.53538e-18	0.870114	1	0
SCN2A	6326	broad.mit.edu	37	2	166198918	166198918	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:166198918G>T	ENST00000375437.2	+	15	2791	c.2501G>T	c.(2500-2502)aGt>aTt	p.S834I	SCN2A_ENST00000375427.2_Missense_Mutation_p.S834I|SCN2A_ENST00000357398.3_Missense_Mutation_p.S834I|SCN2A_ENST00000283256.6_Missense_Mutation_p.S834I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	834					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S834I(4)		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)	GTGAGCCTTAGTTTAATGGAA	0.358000													43	128					6.68952e-21	1.14243e-20	0.864702	1	0
MUC2	4583	broad.mit.edu	37	11	1103934	1103934	+	Splice_Site	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:1103934A>T	ENST00000441003.2	+	48	8260	c.8234_splice	c.e48+1	p.M2745_splice		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5107						inner mucus layer|outer mucus layer	protein binding	p.M2745L(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACATTTGTCATGTGAGTCCC	0.672000													2	1					0	0	0.115264	0	0
CRISP1	167	broad.mit.edu	37	6	49806202	49806202	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:49806202C>G	ENST00000335847.4	-	7	671	c.570G>C	c.(568-570)aaG>aaC	p.K190N	CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000536021.1_Intron|CRISP1_ENST00000355791.2_Missense_Mutation_p.K190N|CRISP1_ENST00000505118.1_Missense_Mutation_p.K190N|CRISP1_ENST00000507853.1_Intron	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	190					fusion of sperm to egg plasma membrane	extracellular space		p.K190N(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGACGCCTGTCTTATAAGGTT	0.358000													9	130					0	0	0.361761	0	0
PKNOX2	63876	broad.mit.edu	37	11	125301253	125301253	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:125301253G>T	ENST00000298282.9	+	13	1655	c.1384G>T	c.(1384-1386)Gac>Tac	p.D462Y	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.D398Y	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	462						nucleus	sequence-specific DNA binding transcription factor activity	p.D462Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AAATGTCAGCGACCTGGGCTT	0.587000													15	53					6.31663e-08	7.38343e-08	0.479597	1	0
CYP2W1	54905	broad.mit.edu	37	7	1026291	1026291	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:1026291T>A	ENST00000340150.6	+	5	531	c.509T>A	c.(508-510)cTg>cAg	p.L170Q	CYP2W1_ENST00000308919.7_Missense_Mutation_p.L226Q			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	226					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.L226Q(1)		breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTCGGGGCCCTGCTCCAGCTG	0.697000													13	68					0	0	0.435327	0	0
NPAP1	23742	broad.mit.edu	37	15	24922547	24922547	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:24922547C>A	ENST00000329468.2	+	1	2007	c.1533C>A	c.(1531-1533)gtC>gtA	p.V511V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.V511V(2)									AGCCTCCCGTCACAAGGGAGT	0.537000													113	284					1.30845e-55	2.76034e-55	0.870114	1	0
DLL1	28514	broad.mit.edu	37	6	170594720	170594720	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:170594720T>A	ENST00000366756.3	-	6	1132	c.799A>T	c.(799-801)Acc>Tcc	p.T267S		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	267	EGF-like 2.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	p.T267S(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGCTGGCAGGTGCCATGGAGA	0.607000													14	52					0	0	0.693898	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42394865	42394865	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:42394865C>G	ENST00000225441.7	+	11	1448	c.1211C>G	c.(1210-1212)cCa>cGa	p.P404R	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.P399R|RUNDC3A_ENST00000426726.3_Intron	NM_001144826.1|NM_006695.4	NP_001138298.1|NP_006686.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	0					small GTPase mediated signal transduction		small GTPase regulator activity	p.P404R(2)		large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		agctcagagccaaattagtgg	0.493000													13	52					0	0	0.479597	0	0
MS4A4A	51338	broad.mit.edu	37	11	60064675	60064675	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:60064675G>T	ENST00000355131.3	+	4	373	c.150G>T	c.(148-150)gtG>gtT	p.V50V	MS4A4A_ENST00000337908.4_Silent_p.V69V|MS4A4A_ENST00000532114.1_Silent_p.V69V|MS4A4A_ENST00000395016.3_Silent_p.V50V	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	69						integral to membrane	receptor activity	p.V50V(2)|p.V69V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TTTAGGTTGTGCAGATTCTGA	0.423000													36	112					1.836e-18	2.99299e-18	0.788014	1	0
PIK3R4	30849	broad.mit.edu	37	3	130425910	130425910	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:130425910G>A	ENST00000356763.3	-	11	3160	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	868					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.P868L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CATGTTTGGTGGGTCCAGTGA	0.443000													15	52					0	0	0.500413	0	0
PAX2	5076	broad.mit.edu	37	10	102509514	102509514	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:102509514G>A	ENST00000370296.2	+	2	605	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	PAX2_ENST00000355243.3_Missense_Mutation_p.G19S|PAX2_ENST00000556085.1_Missense_Mutation_p.G18S|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000428433.1_Missense_Mutation_p.G19S|PAX2_ENST00000361791.3_Missense_Mutation_p.G19S			Q02962	PAX2_HUMAN	paired box 2	19	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.G19S(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGGGCACGGGGGTGTGAACCA	0.672000													22	48					0	0	0.654019	0	0
TTN	7273	broad.mit.edu	37	2	179452755	179452755	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179452755G>C	ENST00000589042.1	-	305	63603	c.63379C>G	c.(63379-63381)Cgc>Ggc	p.R21127G	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12187G|TTN_ENST00000342992.6_Missense_Mutation_p.R18559G|TTN_ENST00000342175.6_Missense_Mutation_p.R12254G|TTN_ENST00000460472.2_Missense_Mutation_p.R12062G|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19486G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19486	Fibronectin type-III 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R18559G(2)|p.R12187G(2)|p.R18557G(2)|p.R12062G(2)|p.R12254G(2)		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)			AATTCCTTGCGTACAAGCTGT	0.473000													8	62					0	0	0.278610	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416157	5416157	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:5416157C>A	ENST00000341928.2	-	13	2067	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R576I|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	576	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.R576I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGTTTGCTGTCTGTAGCTAAA	0.577000													41	132					1.22674e-20	2.0905e-20	0.840704	1	0
DNAH10	196385	broad.mit.edu	37	12	124364246	124364246	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:124364246G>A	ENST00000409039.3	+	49	8203	c.8178G>A	c.(8176-8178)agG>agA	p.R2726R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2726					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1318R(2)|p.R2726R(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGTGATGAGGGATCCCATAT	0.493000													109	184					0	0	0.870114	0	0
RUNX1T1	862	broad.mit.edu	37	8	93004039	93004039	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:93004039G>T	ENST00000523629.1	-	7	1273	c.819C>A	c.(817-819)ggC>ggA	p.G273G	RUNX1T1_ENST00000518844.1_Silent_p.G246G|RUNX1T1_ENST00000422361.2_Silent_p.G236G|RUNX1T1_ENST00000360348.2_Silent_p.G236G|RUNX1T1_ENST00000520724.1_Silent_p.G236G|RUNX1T1_ENST00000396218.1_Silent_p.G246G|RUNX1T1_ENST00000436581.2_Silent_p.G284G|RUNX1T1_ENST00000265814.3_Silent_p.G273G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	273					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G273G(2)|p.G284G(2)|p.G236G(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTACCGCTGGCCTGGGCTAA	0.507000													36	97					2.48696e-23	4.38973e-23	0.779181	1	0
MDC1	9656	broad.mit.edu	37	6	30680116	30680116	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:30680116T>C	ENST00000376406.3	-	5	2250	c.1603A>G	c.(1603-1605)Att>Gtt	p.I535V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.I535V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	535	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.I535V(2)		breast(2)|kidney(1)|ovary(1)	4						ATATGTATAATGGCTGACCCT	0.502000								Other conserved DNA damage response genes					19	123					0	0	0.834066	0	0
LIG1	3978	broad.mit.edu	37	19	48653099	48653099	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:48653099C>A	ENST00000263274.7	-	9	1117		c.e9-1		LIG1_ENST00000536218.1_Splice_Site|LIG1_ENST00000599165.1_Splice_Site|LIG1_ENST00000427526.2_Splice_Site	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent						anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.?(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TTCCGGGGGGCTAGGAATGAA	0.582000								Nucleotide excision repair (NER)					3	24					0.004672	0.00481228	0.115264	1	0
OR13G1	441933	broad.mit.edu	37	1	247835510	247835510	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:247835510C>A	ENST00000359688.2	-	1	855	c.834G>T	c.(832-834)gtG>gtT	p.V278V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V278V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGTGGGAGTCACAAGAGTAT	0.438000													60	112					1.1362e-29	2.19183e-29	0.870114	1	0
ZNF570	148268	broad.mit.edu	37	19	37976118	37976118	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:37976118A>T	ENST00000330173.1	+	5	2123	c.1594A>T	c.(1594-1596)Aat>Tat	p.N532Y	ZNF570_ENST00000388801.3_Missense_Mutation_p.N329Y|ZNF570_ENST00000586475.1_Missense_Mutation_p.N588Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N532Y(2)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			caacccagtcaatcaccaagt	0.408000													13	32					0	0	0.435327	0	0
ATOH8	84913	broad.mit.edu	37	2	85991289	85991289	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:85991289G>C	ENST00000306279.3	+	2	1240	c.944G>C	c.(943-945)cGt>cCt	p.R315P	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	315					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R315P(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCGAGGGACGTGCCAAGAAG	0.657000													11	80					0	0	0.479597	0	0
LVRN	206338	broad.mit.edu	37	5	115346543	115346543	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:115346543G>T	ENST00000357872.4	+	14	2323	c.2199G>T	c.(2197-2199)agG>agT	p.R733S		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		733					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.R733S(2)									TGGTAACCAGGGATCTTGTTT	0.308000													19	37					1.33834e-09	1.64992e-09	0.557998	1	0
PER2	8864	broad.mit.edu	37	2	239164502	239164502	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:239164502C>A	ENST00000254657.3	-	18	2395	c.2116G>T	c.(2116-2118)Ggc>Tgc	p.G706C	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	706	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.G706C(2)		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)		AGGGCAGGGCCCGCCAGGCAG	0.587000													36	185					2.75727e-19	4.56077e-19	0.804634	1	0
LATS2	26524	broad.mit.edu	37	13	21565435	21565435	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:21565435G>A	ENST00000382592.4	-	3	856	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.R151W	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	151					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTAATGACCCGCACAATCTGC	0.582000													4	145					0	0	0.150653	0	0
MRPL39	54148	broad.mit.edu	37	21	26969716	26969716	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:26969716C>A	ENST00000307301.7	-	6	640	c.599G>T	c.(598-600)cGt>cTt	p.R200L	MRPL39_ENST00000352957.4_Missense_Mutation_p.R200L	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	200						mitochondrial ribosome	nucleotide binding	p.R200L(4)		endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TGTGAAGGAACGTAAGTTCTC	0.328000													10	15					4.68919e-08	5.50561e-08	0.361761	1	0
ADH1B	125	broad.mit.edu	37	4	100235229	100235229	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:100235229C>A	ENST00000305046.8	-	6	644	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	ADH1B_ENST00000394887.3_Missense_Mutation_p.G153C			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	193					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.G193C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGGTAGAGCCTGGGGTGACC	0.468000													66	239					4.13886e-29	7.88783e-29	0.870114	1	0
TEX2	55852	broad.mit.edu	37	17	62230430	62230430	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:62230430C>G	ENST00000258991.3	-	10	3120	c.3036G>C	c.(3034-3036)gaG>gaC	p.E1012D	TEX2_ENST00000584379.1_Missense_Mutation_p.E1005D|TEX2_ENST00000581812.1_5'UTR|TEX2_ENST00000583097.1_Missense_Mutation_p.E1005D			Q8IWB9	TEX2_HUMAN	testis expressed 2	1005					signal transduction|sphingolipid metabolic process	integral to membrane		p.E1012D(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAAACTCTGTCTCTGTTGCTT	0.388000													16	88					0	0	0.479597	0	0
AGBL1	123624	broad.mit.edu	37	15	86702201	86702201	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:86702201G>T	ENST00000441037.2	+	4	389	c.294G>T	c.(292-294)atG>atT	p.M98I	AGBL1_ENST00000421325.2_Missense_Mutation_p.M98I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	98					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.M98I(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGGAGCCATGGAACTGCTTT	0.443000													38	82					4.4882e-36	9.03365e-36	0.847076	1	0
SLC39A6	25800	broad.mit.edu	37	18	33706321	33706321	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:33706321T>A	ENST00000269187.5	-	2	863	c.650A>T	c.(649-651)gAt>gTt	p.D217V	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.D217V	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	217						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.D217V(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GCTGCTTACATCTTTGGGGAA	0.498000													68	159					0	0	0.870114	0	0
CNGA1	1259	broad.mit.edu	37	4	47939673	47939673	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:47939673G>C	ENST00000402813.3	-	10	1187	c.1045C>G	c.(1045-1047)Cgt>Ggt	p.R349G	CNGA1_ENST00000420489.2_Missense_Mutation_p.R280G|CNGA1_ENST00000358519.4_Missense_Mutation_p.R280G|CNGA1_ENST00000514170.1_Missense_Mutation_p.R280G|CNGA1_ENST00000544810.1_Missense_Mutation_p.R280G			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	280					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	p.R280G(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCAAACATACGAGAGAACCGT	0.363000													36	95					0	0	0.788014	0	0
PAG1	55824	broad.mit.edu	37	8	81905543	81905543	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:81905543C>A	ENST00000220597.4	-	4	631		c.e4-1			NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1						epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGCTGTGTCCTGCAAAGAGA	0.572000													10	18					7.48243e-07	8.44583e-07	0.335167	1	0
ITPKB	3707	broad.mit.edu	37	1	226822507	226822507	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:226822507C>A	ENST00000429204.1	-	8	3033	c.2706G>T	c.(2704-2706)acG>acT	p.T902T	ITPKB_ENST00000272117.3_Silent_p.T902T	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	902							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.T902T(2)|p.T428T(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGGCAGGGGCGTGGTTTTCC	0.597000													18	49					1.33834e-09	1.64992e-09	0.557998	1	0
DPT	1805	broad.mit.edu	37	1	168670292	168670292	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:168670292T>A	ENST00000367817.3	-	3	591	c.502A>T	c.(502-504)Atc>Ttc	p.I168F		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	168	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix		p.I168F(2)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GCTCCTCGGATATAGTAATCA	0.443000													58	206					0	0	0.870114	0	0
ACP5	54	broad.mit.edu	37	19	11687570	11687570	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:11687570A>T	ENST00000592828.1	-	5	752	c.350T>A	c.(349-351)gTc>gAc	p.V117D	ACP5_ENST00000218758.5_Missense_Mutation_p.V117D|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.V117D|ACP5_ENST00000412435.2_Missense_Mutation_p.V117D	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	117					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.V117D(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CTGGGCAGAGACATTGCCAAG	0.562000													26	145					0	0	0.706142	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563130	129563130	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:129563130C>A	ENST00000422113.2	-	8	2390	c.2064G>T	c.(2062-2064)agG>agT	p.R688S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R226S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	688						integral to membrane		p.R688S(2)		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)		CAAAGATGGCCCTGTTGCTTC	0.582000													56	82					4.17463e-26	7.65996e-26	0.870114	1	0
NAPB	63908	broad.mit.edu	37	20	23370621	23370621	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:23370621G>C	ENST00000377026.4	-	7	608	c.523C>G	c.(523-525)Ctt>Gtt	p.L175V	NAPB_ENST00000398425.3_Missense_Mutation_p.L81V|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000432543.2_Missense_Mutation_p.L136V	NM_022080.2	NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	175					intracellular protein transport|vesicle-mediated transport	membrane		p.L175V(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					TACTGCTCAAGCTGGGCAGCA	0.398000													20	104					0	0	0.608945	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033148	82033148	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:82033148C>A	ENST00000328945.5	-	3	877	c.750G>T	c.(748-750)caG>caT	p.Q250H		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	250					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	p.Q250H(2)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						TGAAGTAGGGCTGCCCAGAGG	0.567000													64	271					2.6711e-34	5.29522e-34	0.870114	1	0
FBXL7	23194	broad.mit.edu	37	5	15936573	15936573	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:15936573A>C	ENST00000504595.1	+	4	1235	c.754A>C	c.(754-756)Acc>Ccc	p.T252P	FBXL7_ENST00000510662.1_Missense_Mutation_p.T205P|FBXL7_ENST00000329673.7_Missense_Mutation_p.T240P	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	252					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.T252P(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTCCAAAGTGACCTGCATCAG	0.577000													17	31					0	0	0.520397	0	0
TRIM58	25893	broad.mit.edu	37	1	248028078	248028078	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:248028078G>A	ENST00000366481.3	+	3	636	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	196						intracellular	zinc ion binding	p.E196E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGCCCAGGAGGAGCAACGGC	0.612000													5	64					0	0	0.307466	0	0
FAM149A	25854	broad.mit.edu	37	4	187077232	187077232	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:187077232G>T	ENST00000356371.5	+	7	1335	c.1335G>T	c.(1333-1335)ccG>ccT	p.P445P	FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000389354.5_Silent_p.P154P|FAM149A_ENST00000502970.1_Silent_p.P154P|FAM149A_ENST00000503432.1_Silent_p.P154P|FAM149A_ENST00000227065.4_Silent_p.P154P|FAM149A_ENST00000514153.1_Silent_p.P154P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	445								p.P154P(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTGTTTCCCCGCGTGACTGTG	0.458000													26	82					7.92952e-12	1.07314e-11	0.667858	1	0
ZMAT1	84460	broad.mit.edu	37	X	101152935	101152935	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:101152935C>A	ENST00000372782.3	-	5	458	c.411G>T	c.(409-411)caG>caT	p.Q137H	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.Q137H	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding	p.Q137H(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CATAGTGAGACTGAGCAATAA	0.413000													93	48					6.83469e-46	1.41537e-45	0.870114	1	0
MARCO	8685	broad.mit.edu	37	2	119749443	119749443	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:119749443G>T	ENST00000541757.1	+	15	1345	c.965G>T	c.(964-966)gGa>gTa	p.G322V	MARCO_ENST00000327097.4_Missense_Mutation_p.G400V			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	400	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G400V(2)		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						GGAGACCAGGGAGTGAAAGGT	0.547000													11	16					5.50884e-06	6.11318e-06	0.411799	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64606195	64606195	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:64606195A>G	ENST00000342711.5	-	8	1055	c.1056T>C	c.(1054-1056)taT>taC	p.Y352Y		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	352	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Y352Y(2)		central_nervous_system(1)|lung(3)	4						GCTCAGGAATATAGGGGGCCG	0.617000													24	100					0	0	0.654019	0	0
NELL1	4745	broad.mit.edu	37	11	20948973	20948973	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:20948973G>C	ENST00000298925.5	+	9	1116	c.963G>C	c.(961-963)agG>agC	p.R321S	NELL1_ENST00000357134.5_Missense_Mutation_p.R293S|NELL1_ENST00000325319.5_Missense_Mutation_p.R236S|NELL1_ENST00000532434.1_Missense_Mutation_p.R293S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	293	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.R293S(2)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACCATTGCAGGAACTGCACTT	0.383000													12	48					0	0	0.387290	0	0
SF3B1	23451	broad.mit.edu	37	2	198265001	198265001	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:198265001G>A	ENST00000335508.5	-	19	2967	c.2876C>T	c.(2875-2877)gCt>gTt	p.A959V		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	959					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.A959V(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATGACAACAGCAGTTCGAGA	0.348000			Mis		myelodysplastic syndrome								42	100					0	0	0.834066	0	0
TCTE1	202500	broad.mit.edu	37	6	44254167	44254167	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:44254167C>A	ENST00000371505.4	-	3	502	c.380G>T	c.(379-381)aGt>aTt	p.S127I	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	127								p.S127I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTAGTTCTCACTGTCTATCAG	0.607000													17	181					3.62473e-10	4.554e-10	0.608945	1	0
LY75	4065	broad.mit.edu	37	2	160741774	160741774	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:160741774G>A	ENST00000263636.4	-	6	971	c.944C>T	c.(943-945)tCc>tTc	p.S315F	LY75_ENST00000553424.1_Missense_Mutation_p.S315F|LY75_ENST00000554112.1_Missense_Mutation_p.S315F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S315F|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S315F	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.S315F(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGCACAGCTGGAGCCACCTAT	0.448000													34	116					0	0	0.812448	0	0
NOD2	64127	broad.mit.edu	37	16	50744734	50744734	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:50744734C>A	ENST00000300589.2	+	4	1017	c.912C>A	c.(910-912)ggC>ggA	p.G304G	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	304	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.G304G(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGGGCAGTGGCAAGAGCACGC	0.627000													11	51					1.61879e-10	2.09039e-10	0.411799	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69100244	69100244	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:69100244G>T	ENST00000332644.5	-	5	567	c.406C>A	c.(406-408)Cat>Aat	p.H136N		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	136	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.H136N(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AACATCTGATGTAATTTAGCC	0.378000													36	120					4.11147e-13	5.90884e-13	0.788014	1	0
CNTN5	53942	broad.mit.edu	37	11	99941253	99941253	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:99941253G>T	ENST00000524871.1	+	11	1550	c.1260G>T	c.(1258-1260)acG>acT	p.T420T	CNTN5_ENST00000279463.3_Silent_p.T420T|CNTN5_ENST00000418526.2_Silent_p.T346T|CNTN5_ENST00000527185.1_Silent_p.T420T|CNTN5_ENST00000528682.1_Silent_p.T420T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	420	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.T420T(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCAGACCCACGTATCGTTGGC	0.478000													11	42					3.07112e-06	3.43704e-06	0.387290	1	0
CDH2	1000	broad.mit.edu	37	18	25727729	25727729	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:25727729C>A	ENST00000269141.3	-	2	503	c.80G>T	c.(79-81)gGt>gTt	p.G27V		NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	27					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G27V(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGCGATTTCACCAGAAGCCTC	0.413000													9	36					3.86212e-05	4.18573e-05	0.361761	1	0
FBXO47	494188	broad.mit.edu	37	17	37119170	37119170	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:37119170G>A	ENST00000378079.2	-	2	308	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	37								p.P37S(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GTTGATATGGGTTGAAAGCCT	0.353000													26	92					0	0	0.681144	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432892	111432892	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:111432892T>G	ENST00000393934.3	+	3	1353	c.783T>G	c.(781-783)caT>caG	p.H261Q	PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000477665.1_Missense_Mutation_p.H261Q	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	261					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.H261Q(2)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GCTCCTTCCATGTCTCCCAAG	0.562000													25	110					0	0	0.693898	0	0
KDM2B	84678	broad.mit.edu	37	12	121882033	121882033	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:121882033C>A	ENST00000377069.4	-	16	2546	c.2140G>T	c.(2140-2142)Ggc>Tgc	p.G714C	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.G745C|KDM2B_ENST00000542973.1_Missense_Mutation_p.G113C	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	745					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.G384C(2)|p.G745C(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCAGGGAGCCGGGCAGGTTG	0.572000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	68	77					3.30712e-30	6.4111e-30	0.870114	1	0
ANO5	203859	broad.mit.edu	37	11	22248963	22248963	+	Missense_Mutation	SNP	G	G	A	rs150652958		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:22248963G>A	ENST00000324559.8	+	7	796	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	160						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.R160H(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATATTCCCCGCCCTAAGCAC	0.433000													50	104					0	0	0.870114	0	0
HMCN1	83872	broad.mit.edu	37	1	186114898	186114898	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:186114898G>T	ENST00000271588.4	+	93	14680	c.14451G>T	c.(14449-14451)tgG>tgT	p.W4817C	HMCN1_ENST00000367492.2_Missense_Mutation_p.W4817C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4817	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.W4817C(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGAAGTTGGGGAAGCTGGC	0.502000													33	119					2.35958e-20	3.98654e-20	0.847076	1	0
WDR17	116966	broad.mit.edu	37	4	177069477	177069477	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:177069477G>T	ENST00000393643.2	+	13	2140	c.1888G>T	c.(1888-1890)Gat>Tat	p.D630Y	WDR17_ENST00000508596.1_Missense_Mutation_p.D630Y|WDR17_ENST00000280190.4_Missense_Mutation_p.D654Y|WDR17_ENST00000507824.2_Missense_Mutation_p.D637Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	654								p.D654Y(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCACGGTGCAGATGTATATGG	0.363000													18	96					6.49762e-13	9.22054e-13	0.539581	1	0
GABRG2	2566	broad.mit.edu	37	5	161495054	161495054	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:161495054C>A	ENST00000356592.3	+	1	509	c.49C>A	c.(49-51)Cct>Act	p.P17T	GABRG2_ENST00000361925.4_Missense_Mutation_p.P17T|GABRG2_ENST00000393933.4_De_novo_Start_InFrame|GABRG2_ENST00000414552.2_Missense_Mutation_p.P17T	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	17					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.P17T(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTACTCGACTCCTGTATTTTC	0.463000													23	35					1.55469e-16	2.40993e-16	0.654019	1	0
GBP1	2633	broad.mit.edu	37	1	89523826	89523826	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:89523826G>A	ENST00000370473.4	-	6	942	c.723C>T	c.(721-723)ccC>ccT	p.P241P		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	241					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.P241P(2)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGCGGTGAACGGGCCGATCAA	0.438000													125	313					0	0	0.870114	0	0
NID1	4811	broad.mit.edu	37	1	236192920	236192920	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:236192920C>A	ENST00000264187.6	-	7	1750	c.1668G>T	c.(1666-1668)gtG>gtT	p.V556V	NID1_ENST00000366595.3_Silent_p.V556V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	556	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.V556V(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAATCTGCGGCACGCGGCCCT	0.642000													7	19					3.86212e-05	4.18573e-05	0.361761	1	0
COL5A2	1290	broad.mit.edu	37	2	189929366	189929366	+	Silent	SNP	G	G	T	rs145258293		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:189929366G>T	ENST00000374866.3	-	25	1907	c.1633C>A	c.(1633-1635)Cgg>Agg	p.R545R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	545					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.R545R(2)		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)			ACAGGACCCCGTTCTCCTTGA	0.478000													17	103					3.52763e-06	3.94235e-06	0.520397	1	0
CSMD3	114788	broad.mit.edu	37	8	113504881	113504881	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:113504881G>T	ENST00000297405.5	-	31	5359	c.5115C>A	c.(5113-5115)ggC>ggA	p.G1705G	CSMD3_ENST00000352409.3_Silent_p.G1705G|CSMD3_ENST00000343508.3_Silent_p.G1665G|CSMD3_ENST00000455883.2_Silent_p.G1601G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1705	Sushi 9.					integral to membrane|plasma membrane		p.G1705G(3)|p.G1665G(2)		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						TCATTATATTGCCTGGATCAA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			61	104					2.69953e-25	4.91901e-25	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	113529424	113529424	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:113529424C>A	ENST00000297405.5	-	28	4839	c.4595G>T	c.(4594-4596)gGg>gTg	p.G1532V	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1532V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1492V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1428V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1532	Sushi 8.					integral to membrane|plasma membrane		p.G1532V(2)|p.G1492V(2)		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						CATGGGGACCCCTGGGTCACG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			53	75					2.84144e-21	4.8843e-21	0.870114	1	0
BAGE2	85319	broad.mit.edu	37	21	11058341	11058341	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:11058341G>T	ENST00000470054.1	-	0	324									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)		GGGTAAAGGAGAGAAATCTCT	0.363000													5	173					0.0215528	0.0218856	0.217242	1	0
MEGF10	84466	broad.mit.edu	37	5	126776495	126776495	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:126776495C>T	ENST00000274473.6	+	19	2565	c.2298C>T	c.(2296-2298)gaC>gaT	p.D766D	MEGF10_ENST00000503335.2_Silent_p.D766D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	766	EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.D766D(2)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACGGAGCTGACTGCGACCACA	0.507000													45	107					0	0	0.859065	0	0
OR2L8	391190	broad.mit.edu	37	1	248112202	248112202	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:248112202G>T	ENST00000357191.3	+	1	43	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G15W(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATCTTATTGGGGCTGTTTCC	0.368000													56	168					4.88506e-25	8.84016e-25	0.870114	1	0
LAMA5	3911	broad.mit.edu	37	20	60888802	60888802	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:60888802G>C	ENST00000252999.3	-	63	8627	c.8561C>G	c.(8560-8562)aCc>aGc	p.T2854S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2854	Laminin G-like 1.				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	p.T2854S(1)		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)	GTCACCCTTGGTTTCCTGGAT	0.627000													51	127					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9047436	9047436	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:9047436C>A	ENST00000397910.4	-	5	34398	c.34195G>T	c.(34195-34197)Gat>Tat	p.D11399Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11401	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D7032Y(2)|p.D11399Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGGTACATCAGGTGAGACA	0.463000													47	87					6.4308e-24	1.14277e-23	0.870114	1	0
EPHA5	2044	broad.mit.edu	37	4	66535351	66535351	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:66535351C>T	ENST00000273854.3	-	1	710	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	EPHA5_ENST00000511294.1_Missense_Mutation_p.R37Q|EPHA5_ENST00000354839.4_Missense_Mutation_p.R37Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.R37Q	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	37					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.R37Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GAGGGGAGCCCGTCGAGGTGC	0.751000										TSP Lung(17;0.13)			4	15					0	0	0.184627	0	0
ARAF	369	broad.mit.edu	37	X	47426307	47426307	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:47426307G>T	ENST00000377045.4	+	8	918	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	242					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.D242Y(2)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TTTCAGCACTGATGGTGAGTC	0.587000													29	59					1.7881e-09	2.20096e-09	0.729181	1	0
SLC25A13	10165	broad.mit.edu	37	7	95818951	95818951	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:95818951C>A	ENST00000416240.2	-	8	980	c.790G>T	c.(790-792)Gtt>Ttt	p.V264F	SLC25A13_ENST00000542654.1_Missense_Mutation_p.V156F|SLC25A13_ENST00000265631.5_Missense_Mutation_p.V264F	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	264					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	p.V264F(2)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATGGGTGTAACCTGACCAAAT	0.353000													40	180					6.04917e-29	1.14731e-28	0.827153	1	0
COL12A1	1303	broad.mit.edu	37	6	75828759	75828759	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:75828759C>A	ENST00000322507.8	-	46	7663	c.7354_splice	c.e46+1	p.G2452_splice	COL12A1_ENST00000483888.2_Splice_Site_p.G2452_splice|COL12A1_ENST00000416123.2_Splice_Site_p.G2452_splice|COL12A1_ENST00000345356.6_Splice_Site_p.G1288_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2452	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.G2452W(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGTGCTTGCCTGACTGCTGG	0.423000													16	92					9.16793e-09	1.09932e-08	0.520397	1	0
SLC22A6	9356	broad.mit.edu	37	11	62751943	62751943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:62751943G>A	ENST00000377871.3	-	1	486	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	SLC22A6_ENST00000458333.2_Nonsense_Mutation_p.Q74*|SLC22A6_ENST00000360421.4_Nonsense_Mutation_p.Q74*|SLC22A6_ENST00000421062.2_Nonsense_Mutation_p.Q74*	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	74					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.Q74*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GACTCAGGCTGCCCCTGCCTG	0.677000													16	41					0	0	0.557998	0	0
OR5M1	390168	broad.mit.edu	37	11	56380871	56380871	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:56380871T>A	ENST00000526538.1	-	1	107	c.108A>T	c.(106-108)ctA>ctT	p.L36L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L36L(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CCAGTGTGATTAGGTAGATCG	0.498000													48	149					0	0	0.870114	0	0
TTC17	55761	broad.mit.edu	37	11	43411214	43411214	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:43411214G>T	ENST00000039989.4	+	3	276	c.262G>T	c.(262-264)Gct>Tct	p.A88S	TTC17_ENST00000299240.6_Missense_Mutation_p.A88S	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	88							binding	p.A88S(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ACAATTAGTTGCTCAAAAAAT	0.383000													28	75					2.25844e-05	2.47487e-05	0.717897	1	0
OARD1	221443	broad.mit.edu	37	6	41036604	41036604	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:41036604C>A	ENST00000479950.1	-	5	645	c.332G>T	c.(331-333)gGa>gTa	p.G111V	OARD1_ENST00000463088.1_Missense_Mutation_p.G111V|OARD1_ENST00000373154.2_Intron|OARD1_ENST00000486443.1_Missense_Mutation_p.G72V|OARD1_ENST00000482515.1_Intron|OARD1_ENST00000468811.1_Missense_Mutation_p.G111V|OARD1_ENST00000464633.1_Intron|OARD1_ENST00000424266.2_Missense_Mutation_p.G111V|OARD1_ENST00000480585.1_Intron|OARD1_ENST00000244558.9_Intron					O-acyl-ADP-ribose deacylase 1									p.G111V(2)|p.G111E(1)									GTCAGTGACTCCATTCTTCAG	0.408000													18	32					5.03518e-11	6.57742e-11	0.557998	1	0
CSMD3	114788	broad.mit.edu	37	8	113988231	113988231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:113988231C>A	ENST00000297405.5	-	7	1421	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E393*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E353*|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	393						integral to membrane|plasma membrane		p.E393*(2)|p.E353*(2)		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						ACTCGCTGTTCCTCGGAAAGT	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	229					9.22156e-22	1.59908e-21	0.870114	1	0
WNT1	7471	broad.mit.edu	37	12	49374219	49374219	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:49374219C>A	ENST00000293549.3	+	3	407	c.371C>A	c.(370-372)aCg>aAg	p.T124K		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	124					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.T124K(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TGTCGAGAAACGGCGTTTATC	0.652000													15	33					1.5739e-10	2.03575e-10	0.500413	1	0
NLGN1	22871	broad.mit.edu	37	3	173525608	173525608	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:173525608G>T	ENST00000457714.1	+	4	1061	c.632G>T	c.(631-633)cGa>cTa	p.R211L	NLGN1_ENST00000361589.4_Missense_Mutation_p.R211L|NLGN1_ENST00000545397.1_Missense_Mutation_p.R211L|NLGN1_ENST00000401917.3_Missense_Mutation_p.R251L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	228					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.R211L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTCAACTATCGACTTGGAGTA	0.383000													39	89					2.59497e-14	3.82697e-14	0.834066	1	0
GLYATL2	219970	broad.mit.edu	37	11	58604550	58604550	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:58604550T>C	ENST00000287275.1	-	5	804	c.414A>G	c.(412-414)ccA>ccG	p.P138P	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.P138P	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	138						mitochondrion	glycine N-acyltransferase activity	p.P138P(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGTGTTTCTTTGGTAATTCCG	0.378000													45	158					0	0	0.847076	0	0
CHRD	8646	broad.mit.edu	37	3	184104632	184104632	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:184104632G>T	ENST00000204604.1	+	17	2442		c.e17-1		CHRD_ENST00000348986.3_Splice_Site|CHRD_ENST00000450923.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Splice_Site	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.?(4)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCTCTGCAGAGACGAACGG	0.652000													15	71					2.23348e-06	2.50671e-06	0.500413	1	0
AMER2	219287	broad.mit.edu	37	13	25744474	25744474	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:25744474C>A	ENST00000357816.2	-	3	1402	c.927G>T	c.(925-927)ccG>ccT	p.P309P	AMER2_ENST00000381853.3_Silent_p.P309P|AMER2_ENST00000515384.1_Silent_p.P428P					APC membrane recruitment protein 2									p.P428P(2)|p.P309P(2)									CCACCTCGTCCGGGCTGGCCA	0.652000													12	46					2.27111e-07	2.60831e-07	0.411799	1	0
INTS5	80789	broad.mit.edu	37	11	62415695	62415695	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:62415695C>A	ENST00000330574.2	-	2	1909	c.1857G>T	c.(1855-1857)gaG>gaT	p.E619D		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	619					snRNA processing	integral to membrane|integrator complex	protein binding	p.E619D(2)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CAGCTACTTCCTCCTCAGGAT	0.617000													17	63					3.41278e-10	4.3083e-10	0.520397	1	0
EPAS1	2034	broad.mit.edu	37	2	46611777	46611777	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:46611777G>T	ENST00000263734.3	+	16	3101	c.2591G>T	c.(2590-2592)aGa>aTa	p.R864I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	864	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R864I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACCTCCTCAGAGCCCTGGAC	0.607000													10	93					7.48243e-07	8.44583e-07	0.335167	1	0
SLC47A1	55244	broad.mit.edu	37	17	19445753	19445753	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:19445753G>T	ENST00000270570.4	+	2	269	c.183G>T	c.(181-183)gtG>gtT	p.V61V	SLC47A1_ENST00000575023.1_Silent_p.V61V|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000436810.2_Silent_p.V61V|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000395585.1_Silent_p.V61V|SLC47A1_ENST00000542886.1_Silent_p.V61V|SLC47A1_ENST00000457293.1_Silent_p.V61V	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	61						integral to membrane|plasma membrane	drug:hydrogen antiporter activity	p.V61V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TAAGCTCCGTGTTCTGTGGCC	0.557000													30	79					9.65021e-13	1.36697e-12	0.750413	1	0
NPY4R	5540	broad.mit.edu	37	10	47087824	47087824	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:47087824G>A	ENST00000374312.1	+	3	1460	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	NPY4R_ENST00000395716.1_Silent_p.E347E	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.E347E(2)									CCCCCCTGGAGGAGTCGGAGC	0.557000													21	147					0	0	0.592651	0	0
CHRNG	1146	broad.mit.edu	37	2	233406159	233406159	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:233406159G>A	ENST00000389494.3	+	5	447	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	142					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	p.P142P(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		ACTGGCTGCCGCCTGCCATCT	0.577000													20	110					0	0	0.654019	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100672318	100672318	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:100672318G>T	ENST00000268070.4	-	12	1720	c.1615C>A	c.(1615-1617)Ccg>Acg	p.P539T		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	539	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P539T(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACATGCTCCGGGATGGGCGTC	0.672000											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	30					0.00621372	0.00639195	0.335167	1	0
PCOLCE2	26577	broad.mit.edu	37	3	142537297	142537297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:142537297G>T	ENST00000295992.3	-	9	1434	c.1128C>A	c.(1126-1128)taC>taA	p.Y376*	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.H297N	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	376	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.Y376*(2)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCATAATAATGTAATTTAGAC	0.363000													40	102					3.61848e-18	5.87444e-18	0.834066	1	0
SLC6A3	6531	broad.mit.edu	37	5	1422011	1422011	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:1422011C>A	ENST00000270349.9	-	5	899	c.772G>T	c.(772-774)Ggc>Tgc	p.G258C	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G258C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	258					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.G258C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GTCTTCACGCCCTTCCAGAGG	0.642000													55	95					1.19403e-26	2.21149e-26	0.870114	1	0
CELF4	56853	broad.mit.edu	37	18	34854816	34854816	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:34854816G>C	ENST00000420428.2	-	5	1004	c.609C>G	c.(607-609)gcC>gcG	p.A203A	CELF4_ENST00000361795.5_Silent_p.A202A|CELF4_ENST00000412753.1_Silent_p.A203A|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000591287.1_Silent_p.A202A|CELF4_ENST00000334919.5_Silent_p.A193A|CELF4_ENST00000603232.1_Silent_p.A203A|CELF4_ENST00000601019.1_Silent_p.A202A|CELF4_ENST00000591282.1_Silent_p.A203A|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000588597.1_Silent_p.A192A	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	203	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.A203A(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCTGCGCCTCGGCGTGGGAGG	0.736000													3	13					0	0	0.115264	0	0
EPHB4	2050	broad.mit.edu	37	7	100417356	100417356	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100417356C>A	ENST00000358173.3	-	6	1588	c.1120G>T	c.(1120-1122)Ggg>Tgg	p.G374W	EPHB4_ENST00000360620.3_Missense_Mutation_p.G374W|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	374	Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.G374W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGGTCTCCCCCGCAGGGCGCA	0.677000													12	29					0.00185496	0.00194364	0.435327	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3428348	3428348	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:3428348C>T	ENST00000324266.5	+	5	1526	c.1331C>T	c.(1330-1332)gCt>gTt	p.A444V	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A444V	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	444							binding	p.A444V(2)									TTCCAGAATGCTGAGATGGAA	0.448000													87	178					0	0	0.870114	0	0
ZIM3	114026	broad.mit.edu	37	19	57646630	57646630	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:57646630C>T	ENST00000269834.1	-	5	1460	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G359R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTCTCTTCCCAGTGTGAATT	0.393000													65	129					0	0	0.870114	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596702	142596702	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:142596702T>C	ENST00000370503.2	-	2	451	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	123								p.Q123R(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCATCCTCCTGTGAGGATCC	0.453000													61	91					0	0	0.870114	0	0
HERC1	8925	broad.mit.edu	37	15	63987027	63987027	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:63987027G>C	ENST00000443617.2	-	28	5275	c.5188C>G	c.(5188-5190)Caa>Gaa	p.Q1730E	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1730					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.Q1730E(4)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACAACTGTTGATAAATTTTA	0.378000													20	51					0	0	0.592651	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14248435	14248435	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:14248435G>T	ENST00000360954.2	+	2	1081	c.645G>T	c.(643-645)tcG>tcT	p.S215S		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	215					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	p.S215S(2)		large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGCGCATCTCGGCCATGTCCA	0.642000													23	36					4.26978e-12	5.85888e-12	0.654019	1	0
KLK15	55554	broad.mit.edu	37	19	51330233	51330233	+	Missense_Mutation	SNP	G	G	T	rs7247190		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:51330233G>T	ENST00000326856.4	-	4	508	c.379C>A	c.(379-381)Ccc>Acc	p.P127T	KLK15_ENST00000416184.1_Intron|KLK15_ENST00000598239.1_Missense_Mutation_p.P128T|KLK15_ENST00000596931.1_Missense_Mutation_p.P127T|KLK15_ENST00000301421.2_Missense_Mutation_p.P128T	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	128	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P128T(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAACGCGTGGGTAGCACCGCG	0.711000													28	52					1.5548e-18	2.53983e-18	0.693898	1	0
EPHA3	2042	broad.mit.edu	37	3	89480412	89480412	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:89480412G>T	ENST00000336596.2	+	13	2474	c.2249G>T	c.(2248-2250)cGg>cTg	p.R750L	EPHA3_ENST00000494014.1_Missense_Mutation_p.R750L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	750	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding	p.R750L(2)|p.R750Q(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTCGCTGCTCGGAACATCTTG	0.488000										TSP Lung(6;0.00050)			19	36					2.94398e-08	3.46687e-08	0.557998	1	0
TINAG	27283	broad.mit.edu	37	6	54214562	54214562	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:54214562C>A	ENST00000259782.4	+	7	1044	c.948C>A	c.(946-948)acC>acA	p.T316T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	316					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.T316T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AAAATGCTACCAACAATGGAT	0.443000													47	141					1.89013e-27	3.55074e-27	0.870114	1	0
TCEB3C	162699	broad.mit.edu	37	18	44555227	44555227	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:44555227G>A	ENST00000330682.2	-	1	1222	c.987C>T	c.(985-987)gcC>gcT	p.A329A	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	329	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.A329A(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGAGCTGGCAGGCAGGCCTGG	0.667000													29	1004					0	0	0.592651	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29727032	29727032	+	RNA	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:29727032A>T	ENST00000602980.1	+	0	850					NR_036482.1																						TTCTTCCAAAAATGCTGTCAT	0.274000													11	59					0	0	0.435327	0	0
ZNF208	7757	broad.mit.edu	37	19	22154978	22154978	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:22154978G>T	ENST00000397126.4	-	4	3006	c.2858C>A	c.(2857-2859)gCc>gAc	p.A953D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.A853D(4)|p.A953D(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGACTTATAGGCTTTGCCACA	0.368000													16	29					2.32078e-09	2.84332e-09	0.479597	1	0
KLHL6	89857	broad.mit.edu	37	3	183225911	183225911	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:183225911C>A	ENST00000341319.3	-	3	880	c.845G>T	c.(844-846)aGg>aTg	p.R282M		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	282								p.R282M(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGGGCACTGCCTGATGAGAGG	0.537000													37	139					1.08052e-11	1.45235e-11	0.796494	1	0
NOD2	64127	broad.mit.edu	37	16	50745614	50745614	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:50745614C>A	ENST00000300589.2	+	4	1897	c.1792C>A	c.(1792-1794)Ccc>Acc	p.P598T		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	598	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.P598T(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAGTACGGCGCCCCTGGAATT	0.567000													11	66					1.08611e-07	1.26206e-07	0.387290	1	0
GRM8	2918	broad.mit.edu	37	7	126173167	126173167	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:126173167T>C	ENST00000339582.2	-	9	3077	c.2269A>G	c.(2269-2271)Atc>Gtc	p.I757V	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.I757V|GRM8_ENST00000358373.3_Missense_Mutation_p.I757V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	757					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.I757V(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)	ATCAAGAGGATACTGTATCCA	0.443000										HNSCC(24;0.065)			15	59					0	0	0.457914	0	0
SGK2	10110	broad.mit.edu	37	20	42199282	42199282	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:42199282G>A	ENST00000373100.1	+	8	846	c.386G>A	c.(385-387)cGc>cAc	p.R129H	SGK2_ENST00000373077.1_Missense_Mutation_p.R128H|SGK2_ENST00000341458.4_Missense_Mutation_p.R189H|SGK2_ENST00000426287.1_Missense_Mutation_p.R155H|SGK2_ENST00000423407.3_Missense_Mutation_p.R129H|SGK2_ENST00000373092.3_Missense_Mutation_p.R129H|SGK2_ENST00000485914.1_3'UTR			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	189	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	p.R189H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCGGGAGCGCCGGTTCCTG	0.637000													19	111					0	0	0.575678	0	0
IL16	3603	broad.mit.edu	37	15	81585042	81585042	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:81585042G>T	ENST00000394660.2	+	12	1926	c.1566G>T	c.(1564-1566)ggG>ggT	p.G522G	IL16_ENST00000302987.4_Silent_p.G522G	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	522					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.G522G(4)		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						GGTCCCCAGGGGGAAGTCCTG	0.607000													22	50					2.32416e-17	3.71207e-17	0.624587	1	0
ANKRD32	84250	broad.mit.edu	37	5	94014519	94014519	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:94014519A>T	ENST00000265140.5	+	15	2253	c.1834A>T	c.(1834-1836)Aaa>Taa	p.K612*		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	612								p.K612*(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TTAGGTCTTCAAACATGAACT	0.299000													9	23					0	0	0.479597	0	0
NRCAM	4897	broad.mit.edu	37	7	107834586	107834586	+	Missense_Mutation	SNP	A	A	T	rs146218985	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:107834586A>T	ENST00000379028.3	-	17	2130	c.1660T>A	c.(1660-1662)Tat>Aat	p.Y554N	NRCAM_ENST00000379022.4_Missense_Mutation_p.Y554N|NRCAM_ENST00000379024.4_Missense_Mutation_p.Y535N|NRCAM_ENST00000351718.4_Missense_Mutation_p.Y548N|NRCAM_ENST00000425651.2_Missense_Mutation_p.Y554N|NRCAM_ENST00000413765.2_Missense_Mutation_p.Y535N			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	554	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.Y548N(2)|p.Y554N(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAACTGCATATTCGGGCTGT	0.413000													29	134					0	0	0.827153	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864655	131864655	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:131864655G>T	ENST00000359827.3	-	20	4627	c.3665C>A	c.(3664-3666)tCc>tAc	p.S1222Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1222Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1222	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane		p.S1222Y(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCCCCGGGGAGTACTCCAT	0.647000													8	21					3.09899e-07	3.54362e-07	0.307466	1	0
PLEKHM1	9842	broad.mit.edu	37	17	43531202	43531202	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:43531202A>T	ENST00000430334.3	-	7	2149	c.2016T>A	c.(2014-2016)ttT>ttA	p.F672L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.F583L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	672					intracellular signal transduction	cytoplasm	metal ion binding	p.F672L(2)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ACGACCAGTCAAACTGTGTGC	0.612000													40	131					0	0	0.840704	0	0
SPAG1	6674	broad.mit.edu	37	8	101253240	101253240	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:101253240A>G	ENST00000388798.2	+	19	2962	c.2771A>G	c.(2770-2772)tAt>tGt	p.Y924C	SPAG1_ENST00000251809.3_Missense_Mutation_p.Y924C	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	924					single fertilization	cytoplasm	GTP binding|hydrolase activity	p.Y924C(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAAAGGCAGTATGAGCTTTAA	0.368000													37	54					0	0	0.804634	0	0
FRYL	285527	broad.mit.edu	37	4	48584628	48584628	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:48584628A>T	ENST00000358350.4	-	20	2476	c.1872T>A	c.(1870-1872)cgT>cgA	p.R624R	FRYL_ENST00000503238.1_Silent_p.R624R|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.R624R|FRYL_ENST00000506685.1_Silent_p.R330R|FRYL_ENST00000537810.1_Silent_p.R624R	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R624R(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGTCACTTCACGAACAATAA	0.393000													16	54					0	0	0.500413	0	0
RNF26	79102	broad.mit.edu	37	11	119207086	119207086	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:119207086C>T	ENST00000311413.4	+	1	1850	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	418							zinc ion binding	p.C418C(2)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		ACCGCAATTGCCCGCTCTGCC	0.642000													33	130					0	0	0.788014	0	0
COL12A1	1303	broad.mit.edu	37	6	75893229	75893229	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:75893229C>A	ENST00000322507.8	-	10	1737	c.1428G>T	c.(1426-1428)agG>agT	p.R476S	COL12A1_ENST00000483888.2_Missense_Mutation_p.R476S|COL12A1_ENST00000416123.2_Missense_Mutation_p.R476S|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	476	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.R476S(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAATCTGGACCCTATTTGGTG	0.353000													35	101					4.31634e-10	5.41429e-10	0.760397	1	0
WDR90	197335	broad.mit.edu	37	16	715997	715997	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:715997G>A	ENST00000549091.1	+	36	4580	c.4488G>A	c.(4486-4488)gaG>gaA	p.E1496E	WDR90_ENST00000315764.4_Silent_p.E93E|WDR90_ENST00000547944.1_Silent_p.E93E|WDR90_ENST00000293879.4_Silent_p.E1494E|WDR90_ENST00000547543.1_3'UTR	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1494								p.E1494E(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCCGCCCTGAGCAGCAGCGGC	0.687000													14	33					0	0	0.592651	0	0
ROBO4	54538	broad.mit.edu	37	11	124754957	124754957	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:124754957C>T	ENST00000306534.3	-	17	3466	c.2981G>A	c.(2980-2982)tGt>tAt	p.C994Y	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.C849Y	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	994					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.C994Y(2)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGCATACGACAGTGGAGCTG	0.587000													34	126					0	0	0.796494	0	0
MYOM3	127294	broad.mit.edu	37	1	24385442	24385442	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:24385442G>A	ENST00000330966.7	-	36	4193	c.4031C>T	c.(4030-4032)cCg>cTg	p.P1344L	MYOM3_ENST00000374434.3_Missense_Mutation_p.P1341L|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.P234L			Q5VTT5	MYOM3_HUMAN	myomesin 3	1341	Ig-like C2-type 4.			A -> T (in Ref. 5; CAH10376).				p.P1341L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCACATCCGGCAGACCTCT	0.537000													4	14					0	0	0.184627	0	0
GPR135	64582	broad.mit.edu	37	14	59930621	59930621	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:59930621T>A	ENST00000395116.1	-	1	1439	c.1324A>T	c.(1324-1326)Aac>Tac	p.N442Y		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	442						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N442Y(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GACATCCTGTTGCAGGCCCCC	0.632000													10	24					0	0	0.457914	0	0
CHD9	80205	broad.mit.edu	37	16	53342725	53342725	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:53342725A>G	ENST00000566029.1	+	34	7342	c.7133A>G	c.(7132-7134)gAg>gGg	p.E2378G	CHD9_ENST00000447540.1_Missense_Mutation_p.E2379G|CHD9_ENST00000564845.1_Missense_Mutation_p.E2378G|CHD9_ENST00000398510.3_Missense_Mutation_p.E2394G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2394	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.E2395G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGTGCATCAGAGACCAGCCTC	0.438000													9	27					0	0	0.335167	0	0
TRGC1	6966	broad.mit.edu	37	7	38305252	38305252	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:38305252G>T	ENST00000443402.2	-	0	27					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					AGTGGGCTTGGGGGAAACATC	0.378000													35	246					6.29468e-14	9.19723e-14	0.804634	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204237428	204237428	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:204237428C>T	ENST00000272203.3	-	4	431	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A39T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	39								p.A39T(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCTTTGCGGGCTGTGCGAGTT	0.602000													11	54					0	0	0.387290	0	0
CACNA1B	774	broad.mit.edu	37	9	140972591	140972591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:140972591G>T	ENST00000277549.5	+	36	5126	c.2557G>T	c.(2557-2559)Gag>Tag	p.E853*	CACNA1B_ENST00000371365.2_Nonsense_Mutation_p.E23*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1660*|CACNA1B_ENST00000371372.1_Nonsense_Mutation_p.E1659*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1659*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1658*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1657*			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1659					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.E1659*(2)|p.E23*(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCCTGGCACGAGATCATGCT	0.607000													9	69					5.4927e-09	6.6673e-09	0.307466	1	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53943863	53943863	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:53943863G>C	ENST00000263634.3	-	6	756	c.622C>G	c.(622-624)Caa>Gaa	p.Q208E	GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.Q135E|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.Q246E|ASB3_ENST00000406625.2_Missense_Mutation_p.Q243E|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.Q135E	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		243					intracellular signal transduction			p.Q208E(1)									TCCAAGGCTTGACAATTGACA	0.378000													8	234					0	0	0.307466	0	0
SPTA1	6708	broad.mit.edu	37	1	158583631	158583631	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:158583631C>A	ENST00000368148.3	-	50	7049	c.6869G>T	c.(6868-6870)cGc>cTc	p.R2290L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2287L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2290	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R2290L(2)		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)					GTGAGTCAGGCGCCCTGTCAA	0.408000													6	117					0.0381472	0.0385874	0.278610	1	0
BTRC	8945	broad.mit.edu	37	10	103291028	103291028	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:103291028G>T	ENST00000370187.3	+	7	896	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	BTRC_ENST00000408038.2_Missense_Mutation_p.G224W|BTRC_ENST00000393441.4_Missense_Mutation_p.G219W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	260					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		p.G260W(3)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ACCTCCTGACGGGAATGCTCC	0.313000													32	121					2.32173e-10	2.95937e-10	0.804634	1	0
AGO1	26523	broad.mit.edu	37	1	36381063	36381063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:36381063C>T	ENST00000373204.4	+	15	2161	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	AGO1_ENST00000373206.1_Nonsense_Mutation_p.Q575*	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1									p.Q650*(2)									GCTCCTCATCCAATTCTACAA	0.572000													39	85					0	0	0.804634	0	0
ALDH2	217	broad.mit.edu	37	12	112235926	112235926	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:112235926G>T	ENST00000261733.2	+	10	1189	c.1128G>T	c.(1126-1128)acG>acT	p.T376T	ALDH2_ENST00000416293.3_Silent_p.T329T	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	376					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.T376T(4)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACATCAACACGGGGAAGCAAG	0.542000			T	HMGA2	leiomyoma								24	51					5.45024e-15	8.20656e-15	0.654019	1	0
ALCAM	214	broad.mit.edu	37	3	105271017	105271017	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:105271017G>C	ENST00000306107.5	+	13	2037	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	ALCAM_ENST00000472644.2_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.E462Q|ALCAM_ENST00000389927.4_Missense_Mutation_p.E235Q	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	513					cell adhesion|signal transduction	integral to membrane	receptor binding	p.E513Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGAGGCAGACGAGATAAGTGG	0.338000													11	50					0	0	0.411799	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734443	12734443	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:12734443A>G	ENST00000380682.1	+	15	2371	c.1865A>G	c.(1864-1866)tAc>tGc	p.Y622C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	622					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.Y612C(2)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGGCAGACTACAGAAGTCTA	0.512000													29	71					0	0	0.717897	0	0
SEL1L2	80343	broad.mit.edu	37	20	13912364	13912364	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:13912364T>A	ENST00000284951.5	-	3	242	c.168A>T	c.(166-168)acA>acT	p.T56T	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.T56T			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	56						integral to membrane	binding	p.T56T(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CATTACTAGATGTTCTTTGTT	0.279000													20	56					0	0	0.575678	0	0
SPTA1	6708	broad.mit.edu	37	1	158644393	158644393	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:158644393A>T	ENST00000368148.3	-	9	1365	c.1185T>A	c.(1183-1185)gcT>gcA	p.A395A	SPTA1_ENST00000368147.3_Silent_p.A395A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	395				A -> G (in Ref. 3; AAA60575).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A395A(2)		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)					GCAGCTCATCAGCATTGATCG	0.507000													105	232					0	0	0.870114	0	0
TAT	6898	broad.mit.edu	37	16	71604708	71604708	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:71604708T>A	ENST00000355962.4	-	8	919	c.786A>T	c.(784-786)ccA>ccT	p.P262P	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	262					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.P262P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GGGTGGCCAGTGGTTCATATT	0.552000													11	62					0	0	0.435327	0	0
SLC4A8	9498	broad.mit.edu	37	12	51879644	51879644	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:51879644G>C	ENST00000453097.2	+	17	2463	c.2246G>C	c.(2245-2247)gGa>gCa	p.G749A	SLC4A8_ENST00000358657.3_Missense_Mutation_p.G776A	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	749					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.G749A(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTTTTGATTGGAGTCCCATCA	0.418000													47	79					0	0	0.870114	0	0
SPTB	6710	broad.mit.edu	37	14	65253520	65253520	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:65253520C>A	ENST00000389722.3	-	15	3216	c.3163G>T	c.(3163-3165)Gac>Tac	p.D1055Y	SPTB_ENST00000556626.1_Missense_Mutation_p.D1055Y|SPTB_ENST00000389721.5_Missense_Mutation_p.D1055Y|SPTB_ENST00000542895.1_Missense_Mutation_p.D1055Y|SPTB_ENST00000389720.3_Missense_Mutation_p.D1055Y	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1055					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.D1055Y(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCAGCAAGTCCTCCTGGCCC	0.607000													23	124					1.96895e-08	2.32909e-08	0.639603	1	0
OR10S1	219873	broad.mit.edu	37	11	123848164	123848164	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123848164G>A	ENST00000531945.1	-	1	324	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L79F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGAAGGAGAGGTGCCCCAGG	0.557000													15	53					0	0	0.457914	0	0
CEP63	80254	broad.mit.edu	37	3	134278166	134278166	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:134278166T>C	ENST00000337090.3	+	14	2021	c.1848T>C	c.(1846-1848)tcT>tcC	p.S616S	CEP63_ENST00000606977.1_Silent_p.S616S|CEP63_ENST00000513612.2_Silent_p.S616S|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	616					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.S616S(2)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTCCTACTCTCTATGTAAAA	0.438000													74	220					0	0	0.870114	0	0
FBN2	2201	broad.mit.edu	37	5	127730885	127730885	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:127730885C>A	ENST00000508053.1	-	15	2135	c.1161G>T	c.(1159-1161)caG>caT	p.Q387H	FBN2_ENST00000508989.1_Missense_Mutation_p.Q354H|FBN2_ENST00000262464.4_Missense_Mutation_p.Q387H			P35556	FBN2_HUMAN	fibrillin 2	387	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.Q387H(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGCAGCACTGCATTTTCG	0.552000													18	36					1.00905e-13	1.46618e-13	0.575678	1	0
FAM13A	10144	broad.mit.edu	37	4	89772323	89772323	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:89772323G>A	ENST00000264344.5	-	7	1062	c.855C>T	c.(853-855)tcC>tcT	p.S285S	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	285					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S285S(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCTCACTCCTGGATTTTGGGA	0.408000													46	169					0	0	0.864702	0	0
ACTA1	58	broad.mit.edu	37	1	229568343	229568343	+	Silent	SNP	G	G	T	rs121909526		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:229568343G>T	ENST00000366684.3	-	3	516	c.414C>A	c.(412-414)atC>atA	p.I138I	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	138			I -> M (in NEM3; autosomal recessive).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	p.I138I(3)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GCACGGCCTGGATGGCCACGT	0.706000													54	81					7.50695e-29	1.42038e-28	0.870114	1	0
MANSC1	54682	broad.mit.edu	37	12	12491436	12491436	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:12491436G>A	ENST00000535902.1	-	3	845	c.282C>T	c.(280-282)aaC>aaT	p.N94N	MANSC1_ENST00000545735.1_Silent_p.N13N|MANSC1_ENST00000396349.3_Silent_p.N60N			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	94	MANSC.					integral to membrane		p.N94N(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATAGGTAGCAGTTGGGTTGTC	0.393000													34	88					0	0	0.769981	0	0
FLYWCH2	114984	broad.mit.edu	37	16	2946481	2946481	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:2946481G>T	ENST00000396958.3	+	3	411	c.31G>T	c.(31-33)Ggt>Tgt	p.G11C	FLYWCH2_ENST00000293981.6_Missense_Mutation_p.G11C|FLYWCH2_ENST00000572006.1_Missense_Mutation_p.G11C	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	11								p.G11F(2)		central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						CGAGCAGGAGGGTGAGAGTGT	0.657000													27	62					3.6726e-16	5.64851e-16	0.667858	1	0
S1PR1	1901	broad.mit.edu	37	1	101704717	101704717	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:101704717C>A	ENST00000305352.6	+	2	552	c.177C>A	c.(175-177)atC>atA	p.I59I	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	59					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.I59I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTGCTTTATCATCCTGGAGA	0.458000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	113					1.07637e-12	1.51924e-12	0.804634	1	0
DGKI	9162	broad.mit.edu	37	7	137151659	137151659	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:137151659C>T	ENST00000453654.1	-	26	2166	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	DGKI_ENST00000288490.5_Splice_Site|DGKI_ENST00000446122.1_Splice_Site|DGKI_ENST00000424189.2_Missense_Mutation_p.D846N			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	833					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	p.?(2)		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						TGAGATCTGTCTATTCGATAA	0.358000													10	62					0	0	0.361761	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763833	77763833	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:77763833A>T	ENST00000521891.2	+	10	5124	c.4676A>T	c.(4675-4677)cAc>cTc	p.H1559L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1514L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1514L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1533L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1514						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H1559L(2)		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)			CTCTTGGTCCACTATAATTCA	0.408000										HNSCC(33;0.089)			15	43					0	0	0.457914	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67243129	67243129	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:67243129C>A	ENST00000282670.2	+	5	660	c.532C>A	c.(532-534)Ctt>Att	p.L178I		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	178								p.L178I(2)|p.L178F(1)		large_intestine(2)|lung(10)|skin(1)	13						TGCAGTTTACCTTGAGTGATT	0.363000													30	111					3.73148e-12	5.16515e-12	0.717897	1	0
DOCK7	85440	broad.mit.edu	37	1	63084481	63084481	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:63084481C>G	ENST00000251157.5	-	14	1611	c.1578G>C	c.(1576-1578)ccG>ccC	p.P526P	DOCK7_ENST00000404627.2_Silent_p.P526P|DOCK7_ENST00000340370.5_Silent_p.P526P	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	526					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.P526P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAAGCAGCTCCGGAGTTAGGC	0.388000													69	242					0	0	0.870114	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964605	119964605	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:119964605G>C	ENST00000543831.1	+	4	730	c.481G>C	c.(481-483)Gct>Cct	p.A161P	HSD3B2_ENST00000369416.3_Missense_Mutation_p.A161P	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	161					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.A161P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CAAAAAGCTTGCTGAGAAGGC	0.502000													41	136					0	0	0.847076	0	0
GPR83	10888	broad.mit.edu	37	11	94134234	94134234	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:94134234G>C	ENST00000243673.2	-	1	351	c.180C>G	c.(178-180)cgC>cgG	p.R60R	GPR83_ENST00000539203.2_Silent_p.R60R	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	60						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R60R(2)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGCGCCGTAGCGCCTCCTGC	0.582000													21	60					0	0	0.592651	0	0
RYR3	6263	broad.mit.edu	37	15	33872331	33872331	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:33872331C>G	ENST00000389232.4	+	13	1493	c.1423C>G	c.(1423-1425)Ctt>Gtt	p.L475V	RYR3_ENST00000415757.3_Missense_Mutation_p.L475V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	475					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L475V(3)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGACAAAATCTTTTCAAGGA	0.443000													14	15					0	0	0.435327	0	0
GPR112	139378	broad.mit.edu	37	X	135428122	135428122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:135428122G>T	ENST00000394143.1	+	6	2548	c.2257G>T	c.(2257-2259)Gaa>Taa	p.E753*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.E690*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E753*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E548*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E548*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	753					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E753*(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAATATGCCTGAATTTAAACT	0.373000													51	31					2.69774e-35	5.38866e-35	0.870114	1	0
LAMA3	3909	broad.mit.edu	37	18	21416983	21416983	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:21416983G>T	ENST00000313654.9	+	25	3264	c.3023G>T	c.(3022-3024)cGc>cTc	p.R1008L	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1008L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1008	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1008L(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACATGAGCCGCATCGCCATG	0.488000													16	75					8.00594e-06	8.8469e-06	0.557998	1	0
SPHKAP	80309	broad.mit.edu	37	2	228886442	228886442	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:228886442C>A	ENST00000392056.3	-	6	728	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D228Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	228						cytoplasm	protein binding	p.D228Y(4)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTAGATTCATCCACCTCGCTT	0.443000													32	79					3.99451e-17	6.30333e-17	0.740014	1	0
TENM2	57451	broad.mit.edu	37	5	167645208	167645208	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:167645208C>T	ENST00000519204.1	+	22	4067	c.3949C>T	c.(3949-3951)Ctt>Ttt	p.L1317F	TENM2_ENST00000545108.1_Missense_Mutation_p.L1437F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1262F|TENM2_ENST00000520394.1_Missense_Mutation_p.L1199F|TENM2_ENST00000518659.1_Missense_Mutation_p.L1438F					teneurin transmembrane protein 2									p.L1317F(2)|p.L1438F(2)|p.L1271F(2)									CAATGTCATCCTTCGAATCAC	0.498000													82	133					0	0	0.870114	0	0
AKAP6	9472	broad.mit.edu	37	14	33205041	33205041	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:33205041G>T	ENST00000280979.4	+	11	3495	c.3325G>T	c.(3325-3327)Gaa>Taa	p.E1109*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.E1109*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1109					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.E1109*(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTGAGACAAGAAAAGGAAGG	0.373000													18	82					1.99824e-07	2.30836e-07	0.520397	1	0
DDX53	168400	broad.mit.edu	37	X	23018528	23018528	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:23018528C>T	ENST00000327968.5	+	1	442	c.354C>T	c.(352-354)agC>agT	p.S118S	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	118						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.S118S(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AACAAGAAAGCTACAACTCAG	0.403000													23	52					0	0	0.639603	0	0
AMPH	273	broad.mit.edu	37	7	38471793	38471793	+	Missense_Mutation	SNP	C	C	A	rs145380938		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:38471793C>A	ENST00000356264.2	-	13	1369	c.1154G>T	c.(1153-1155)tGg>tTg	p.W385L	AMPH_ENST00000325590.5_Missense_Mutation_p.W385L|AMPH_ENST00000428293.2_Missense_Mutation_p.W385L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	385					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.W385L(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCTTACCGTCCATAGGTCCCA	0.323000													20	69					4.96729e-08	5.81482e-08	0.575678	1	0
TMEM150C	441027	broad.mit.edu	37	4	83417293	83417293	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:83417293C>T	ENST00000449862.2	-	6	609	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TMEM150C_ENST00000515780.1_Silent_p.P97P|TMEM150C_ENST00000508701.1_Silent_p.P97P|RP11-791G16.2_ENST00000488045.1_RNA	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	97						integral to membrane		p.P97P(2)		ovary(1)	1						TATTCAGCCACGGGTTTAAAA	0.423000													32	90					0	0	0.769981	0	0
C11orf82	220042	broad.mit.edu	37	11	82645123	82645123	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:82645123G>T	ENST00000533655.1	+	6	2955	c.2743G>T	c.(2743-2745)Ggt>Tgt	p.G915C	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.G915C|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.G614C	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	915					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.G915C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AACCAATAAAGGTTTAATTAA	0.343000													17	58					1.02788e-11	1.38633e-11	0.520397	1	0
LRRC56	115399	broad.mit.edu	37	11	552165	552165	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:552165G>T	ENST00000270115.7	+	12	1614	c.1114G>T	c.(1114-1116)Gac>Tac	p.D372Y		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	372								p.D372Y(1)		kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGAGCCTGACCCTGCAGA	0.662000													31	45					3.1745e-13	4.57058e-13	0.729181	1	0
OR13C8	138802	broad.mit.edu	37	9	107332060	107332060	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:107332060G>T	ENST00000335040.1	+	1	612	c.612G>T	c.(610-612)ctG>ctT	p.L204L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L204L(3)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGTCGAATCTGATTGTTCTGG	0.353000													31	131					3.1745e-13	4.57058e-13	0.729181	1	0
SLC30A8	169026	broad.mit.edu	37	8	118174010	118174010	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:118174010C>A	ENST00000427715.2	+	8	893	c.459C>A	c.(457-459)ggC>ggA	p.G153G	SLC30A8_ENST00000519688.1_Silent_p.G153G|SLC30A8_ENST00000456015.2_Silent_p.G202G|SLC30A8_ENST00000521243.1_Silent_p.G153G	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	202					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.G202G(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GATGCCTTGGCCACAATCACA	0.448000													16	112					4.7546e-09	5.78917e-09	0.500413	1	0
DDI2	84301	broad.mit.edu	37	1	15983175	15983175	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:15983175G>T	ENST00000480945.1	+	9	1417		c.e9+1			NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)						proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CCCAGACCAGGTATTTATAGA	0.468000													43	149					1.57019e-19	2.61368e-19	0.834066	1	0
MESDC1	59274	broad.mit.edu	37	15	81295579	81295579	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:81295579A>G	ENST00000267984.2	+	1	2285	c.967A>G	c.(967-969)Agg>Ggg	p.R323G		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	323								p.R323G(1)		endometrium(1)|lung(2)	3						GTCGGACCACAGGGAGAGGCT	0.662000													4	11					0	0	0.217242	0	0
THOC2	57187	broad.mit.edu	37	X	122755273	122755273	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:122755273G>A	ENST00000245838.8	-	31	3982	c.3951C>T	c.(3949-3951)acC>acT	p.T1317T	THOC2_ENST00000355725.4_Silent_p.T1317T|THOC2_ENST00000491737.1_Silent_p.T1202T	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1317	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.T1317T(2)|p.T1238T(2)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTCTTTCCTTGGTCTCTCTTG	0.413000													93	72					0	0	0.870114	0	0
IL27	246778	broad.mit.edu	37	16	28515060	28515060	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:28515060G>T	ENST00000356897.1	-	3	281	c.259C>A	c.(259-261)Ctc>Atc	p.L87I		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	87					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	p.L87I(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ACATCAGGGAGCTGCTCTCCC	0.647000													17	59					1.33834e-09	1.64992e-09	0.557998	1	0
OR9G4	283189	broad.mit.edu	37	11	56511222	56511222	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:56511222G>T	ENST00000302957.3	-	1	65	c.66C>A	c.(64-66)acC>acA	p.T22T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T22T(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGTCAGGATGGTGCAATTTC	0.423000													22	79					5.26018e-13	7.51862e-13	0.608945	1	0
LAMA2	3908	broad.mit.edu	37	6	129470172	129470172	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:129470172C>A	ENST00000421865.2	+	7	1007	c.958C>A	c.(958-960)Cag>Aag	p.Q320K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	320	Laminin EGF-like 1.				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	p.Q320K(2)		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)		TAGCTGTGATCAGTGCTGTCC	0.408000													41	128					1.47197e-15	2.23343e-15	0.834066	1	0
STT3A	3703	broad.mit.edu	37	11	125482978	125482978	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:125482978C>G	ENST00000392708.4	+	13	1619	c.1460C>G	c.(1459-1461)tCc>tGc	p.S487C	STT3A_ENST00000529196.1_Missense_Mutation_p.S487C|STT3A_ENST00000531491.1_Missense_Mutation_p.S395C	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	487					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	p.S487C(2)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCTTCTCCGTCCATTGTACTA	0.473000													60	227					0	0	0.870114	0	0
TICRR	90381	broad.mit.edu	37	15	90138748	90138748	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:90138748G>T	ENST00000268138.7	+	7	1911	c.1806G>T	c.(1804-1806)gtG>gtT	p.V602V	TICRR_ENST00000560985.1_Silent_p.V601V					TOPBP1-interacting checkpoint and replication regulator									p.V602V(2)									GTCCGGATGTGGCTGGGGAGA	0.443000													20	59					1.01871e-10	1.31981e-10	0.575678	1	0
SEMA6D	80031	broad.mit.edu	37	15	48057248	48057248	+	Missense_Mutation	SNP	T	T	G	rs147987261		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:48057248T>G	ENST00000316364.5	+	13	1861	c.1422T>G	c.(1420-1422)caT>caG	p.H474Q	SEMA6D_ENST00000389428.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000358066.4_Missense_Mutation_p.H474Q|SEMA6D_ENST00000355997.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389433.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000354744.4_Missense_Mutation_p.H474Q|SEMA6D_ENST00000536845.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389425.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000558014.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000537942.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000558816.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389432.2_Missense_Mutation_p.H474Q	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	474	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.H474Q(4)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCTACAACCATGCAAAGTAGG	0.423000													17	57					0	0	0.539581	0	0
POM121L12	285877	broad.mit.edu	37	7	53104085	53104085	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:53104085G>T	ENST00000408890.4	+	1	737	c.721G>T	c.(721-723)Ggc>Tgc	p.G241C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	241								p.G241C(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCGAGCCTCGGCCCCTGGAG	0.647000													17	60					1.85244e-09	2.27306e-09	0.654019	1	0
AHCY	191	broad.mit.edu	37	20	32878562	32878562	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:32878562G>A	ENST00000538132.1	-	6	1043	c.657C>T	c.(655-657)atC>atT	p.I219I	AHCY_ENST00000217426.2_Silent_p.I247I	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	247					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	p.I247I(2)		endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGTGCGTTGATGGGGTCAA	0.632000													68	186					0	0	0.870114	0	0
NCAM2	4685	broad.mit.edu	37	21	22849675	22849675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:22849675G>T	ENST00000400546.1	+	15	2209	c.1960G>T	c.(1960-1962)Gag>Tag	p.E654*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E512*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	654	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.E654*(3)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CATCATTTTGGAGCATCTCCA	0.388000													12	52					0.010729	0.0109938	0.387290	1	0
KMT2D	8085	broad.mit.edu	37	12	49432243	49432243	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:49432243G>A	ENST00000301067.7	-	34	8895	c.8896C>T	c.(8896-8898)Cgg>Tgg	p.R2966W		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R2696W(2)|p.R2966W(2)									GACGGGGGCCGGTTGACCAGC	0.602000													52	90					0	0	0.870114	0	0
TMEM143	55260	broad.mit.edu	37	19	48845927	48845927	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:48845927C>T	ENST00000293261.3	-	6	1151	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	TMEM143_ENST00000541566.1_Missense_Mutation_p.A169T|TMEM143_ENST00000436660.2_Missense_Mutation_p.A214T|TMEM143_ENST00000435956.3_Missense_Mutation_p.A244T|TMEM143_ENST00000377431.2_Missense_Mutation_p.A179T	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	279						integral to membrane|mitochondrion		p.A279T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTGAGCAGGGCGCGCTGCAGG	0.642000													15	38					0	0	0.479597	0	0
POLR3A	11128	broad.mit.edu	37	10	79784770	79784770	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:79784770C>A	ENST00000372371.3	-	4	586	c.449G>T	c.(448-450)tGc>tTc	p.C150F		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	150					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.C150F(2)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTTCTTCCGGCACTTGTCAGA	0.468000													43	76					2.26627e-22	3.95595e-22	0.834066	1	0
GATA3	2625	broad.mit.edu	37	10	8105983	8105983	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:8105983C>A	ENST00000379328.3	+	4	1374	c.806C>A	c.(805-807)gCa>gAa	p.A269E	GATA3_ENST00000461472.1_Intron|GATA3_ENST00000346208.3_Missense_Mutation_p.A268E	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	268					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.A269E(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AACTGTGGGGCAACCTCGACC	0.552000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						30	121					2.81731e-10	3.56799e-10	0.750413	1	0
MARCO	8685	broad.mit.edu	37	2	119727850	119727850	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:119727850C>A	ENST00000541757.1	+	4	506	c.126C>A	c.(124-126)ctC>ctA	p.L42L	MARCO_ENST00000327097.4_Silent_p.L120L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	120					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.L120L(2)		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						AGGCCCAACTCACCTGGGTCC	0.612000													17	77					8.00594e-06	8.8469e-06	0.557998	1	0
RTP2	344892	broad.mit.edu	37	3	187416442	187416442	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:187416442C>T	ENST00000358241.1	-	2	950	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	174					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.E174E(2)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TGGTCACCTCCTCCTCCAGCA	0.647000													21	61					0	0	0.624587	0	0
TGFBR1	7046	broad.mit.edu	37	9	101904899	101904899	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:101904899C>T	ENST00000374994.4	+	5	1004	c.887C>T	c.(886-888)aCa>aTa	p.T296I	TGFBR1_ENST00000552516.1_Missense_Mutation_p.T300I|TGFBR1_ENST00000374990.2_Missense_Mutation_p.T219I|TGFBR1_ENST00000550253.1_Missense_Mutation_p.T227I	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	296	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.T296I(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AACAGATACACAGTTACTGTG	0.418000													8	132					0	0	0.307466	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965693	88965693	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:88965693G>T	ENST00000333190.4	+	4	4006	c.3397G>T	c.(3397-3399)Gaa>Taa	p.E1133*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1133						intracellular	zinc ion binding	p.E1133*(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGACGGATTAGAAATGTGTCA	0.363000										HNSCC(36;0.09)			24	88					7.33532e-06	8.1286e-06	0.667858	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43925996	43925996	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:43925996C>A	ENST00000389420.3	-	3	455	c.456G>T	c.(454-456)acG>acT	p.T152T	ADAMTS20_ENST00000553158.1_Silent_p.T152T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	152				T -> V (in Ref. 2; CAD56159/CAD56160).		proteinaceous extracellular matrix	zinc ion binding	p.T152T(2)|p.V152V(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAAATGTTCCCGTCTGAAAAT	0.353000													24	69					5.61819e-17	8.81262e-17	0.693898	1	0
CPQ	10404	broad.mit.edu	37	8	97797421	97797421	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:97797421G>T	ENST00000220763.5	+	2	506	c.296G>T	c.(295-297)gGg>gTg	p.G99V		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	99					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	p.G99V(2)									CAGCAAGATGGGCTGGAGAAA	0.488000													33	66					1.08312e-15	1.64659e-15	0.740014	1	0
MCM2	4171	broad.mit.edu	37	3	127324962	127324962	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:127324962G>T	ENST00000265056.7	+	5	919	c.673_splice	c.e5-1	p.E225_splice		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	225	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.E225D(1)		ovary(3)|skin(2)|stomach(1)	6						CCCTTCTAGAGAACCGTGAGA	0.602000													29	83					7.01153e-11	9.11384e-11	0.717897	1	0
DAW1	164781	broad.mit.edu	37	2	228771916	228771916	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:228771916A>T	ENST00000373666.2	+	10	1557	c.921A>T	c.(919-921)ctA>ctT	p.L307L	DAW1_ENST00000545118.1_Silent_p.L292L|DAW1_ENST00000309931.2_Silent_p.L307L					dynein assembly factor with WDR repeat domains 1									p.L307L(2)									ATGAAATACTAGACAGCTGCT	0.353000													7	45					0	0	0.307466	0	0
CCDC88A	55704	broad.mit.edu	37	2	55549736	55549736	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:55549736C>A	ENST00000436346.1	-	18	3931	c.3090G>T	c.(3088-3090)tgG>tgT	p.W1030C	CCDC88A_ENST00000413716.2_Missense_Mutation_p.W1029C|CCDC88A_ENST00000336838.6_Missense_Mutation_p.W1029C|CCDC88A_ENST00000263630.8_Missense_Mutation_p.W1030C|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1030					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.W1029C(2)|p.W1030C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTCTCGCTCCCATTTGTTGT	0.328000													93	119					1.7666e-45	3.63928e-45	0.870114	1	0
GPR111	222611	broad.mit.edu	37	6	47646847	47646847	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:47646847C>A	ENST00000398742.2	+	3	293	c.244C>A	c.(244-246)Ctt>Att	p.L82I	GPR111_ENST00000296862.1_Missense_Mutation_p.L150I|GPR111_ENST00000507065.1_Missense_Mutation_p.L82I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L150I(2)|p.L82I(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGCCAGACTCTTAATGCCCT	0.458000													11	95					0.000978159	0.00103593	0.387290	1	0
RPGR	6103	broad.mit.edu	37	X	38146132	38146132	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:38146132C>G	ENST00000378505.2	-	15	2296	c.2120G>C	c.(2119-2121)gGg>gCg	p.G707A	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000339363.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	696	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	p.G707A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ctgctcttccccatccctctt	0.537000													4	11					0	0	0.150653	0	0
LMO2	4005	broad.mit.edu	37	11	33886333	33886333	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:33886333G>A	ENST00000257818.2	-	5	1108	c.279C>T	c.(277-279)ccC>ccT	p.P93P	LMO2_ENST00000395833.3_Silent_p.P24P	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	24					multicellular organismal development	nucleus	protein binding|zinc ion binding	p.P24P(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GCAGGGATGGGGGGATCTGCA	0.617000			T	TRD@	T-ALL								9	70					0	0	0.411799	0	0
SCN4A	6329	broad.mit.edu	37	17	62019252	62019252	+	Missense_Mutation	SNP	C	C	T	rs150423825	by1000genomes	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:62019252C>T	ENST00000578147.1	-	24	4466	c.4390G>A	c.(4390-4392)Ggg>Agg	p.G1464R	SCN4A_ENST00000435607.1_Missense_Mutation_p.G1464R			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1464					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1464R(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCCTTGGCCCCGCGGATCAGC	0.617000													23	42					0	0	0.624587	0	0
MOXD1	26002	broad.mit.edu	37	6	132693794	132693794	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:132693794G>T	ENST00000367963.3	-	4	734	c.616C>A	c.(616-618)Caa>Aaa	p.Q206K	MOXD1_ENST00000336749.3_Missense_Mutation_p.Q138K	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	206					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.Q206K(2)|p.Q138K(2)		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)		TTAAACATTTGGCACCAATAT	0.348000													21	86					1.50039e-11	1.99968e-11	0.608945	1	0
TTN	7273	broad.mit.edu	37	2	179565924	179565924	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179565924G>T	ENST00000589042.1	-	111	30829	c.30605C>A	c.(30604-30606)cCt>cAt	p.P10202H	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P8958H|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P9885H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9885	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P8958H(2)		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)			AACCACAGGAGGGATTTCTGA	0.368000													48	142					6.31075e-24	1.12397e-23	0.870114	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24889599	24889599	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:24889599C>A	ENST00000396432.2	-	14	3594	c.3108G>T	c.(3106-3108)caG>caT	p.Q1036H	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.Q823H|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1035	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.Q1035H(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTGCTCTCCTGGATCGTCT	0.443000													25	131					1.66031e-10	2.13005e-10	0.667858	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296585	28296585	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:28296585G>A	ENST00000284987.5	-	8	2701	c.2580C>T	c.(2578-2580)aaC>aaT	p.N860N	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	860	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.N860N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TAGTGACAGAGTTTACTTTTG	0.483000													47	128					0	0	0.859065	0	0
CTCFL	140690	broad.mit.edu	37	20	56078492	56078492	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:56078492C>A	ENST00000429804.2	-	9	2250	c.1690_splice	c.e9+1	p.E564_splice	CTCFL_ENST00000423479.2_Splice_Site_p.E614_splice|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000371196.2_Splice_Site_p.E614_splice|CTCFL_ENST00000243914.3_Splice_Site_p.E614_splice|CTCFL_ENST00000502686.2_Splice_Site_p.G352_splice|CTCFL_ENST00000433949.2_Splice_Site_p.G614_splice|CTCFL_ENST00000422109.2_3'UTR	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	614					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.E614*(2)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAATCAGTACCGTCTCCGTTC	0.512000													56	134					8.72158e-25	1.57467e-24	0.870114	1	0
ZFP42	132625	broad.mit.edu	37	4	188924008	188924008	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:188924008G>T	ENST00000326866.4	+	4	455	c.47G>T	c.(46-48)gGc>gTc	p.G16V	ZFP42_ENST00000509524.1_Missense_Mutation_p.G16V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	16					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G16V(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CACCAGAAAGGCCTGGGTGGA	0.547000													25	132					1.1804e-14	1.76055e-14	0.667858	1	0
PCDH20	64881	broad.mit.edu	37	13	61987564	61987564	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:61987564G>T	ENST00000409186.1	-	5	2773	c.668C>A	c.(667-669)cCt>cAt	p.P223H	PCDH20_ENST00000409204.4_Missense_Mutation_p.P223H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	196	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P196H(2)|p.P223H(2)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTGTTTACAGGTGCATTTTC	0.517000													58	148					1.54043e-34	3.0692e-34	0.870114	1	0
TLL1	7092	broad.mit.edu	37	4	166935713	166935713	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:166935713G>T	ENST00000061240.2	+	8	1689		c.e8+1		TLL1_ENST00000513213.1_Splice_Site|TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGATGTCCAGGTATTGCACTA	0.458000													44	193					2.00842e-17	3.21429e-17	0.853193	1	0
TIE1	7075	broad.mit.edu	37	1	43779579	43779579	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:43779579G>T	ENST00000372476.3	+	14	2428	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L	TIE1_ENST00000433781.2_Silent_p.L428L|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	783					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.L783L(3)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTTAACCCTGGTGTGCATCC	0.657000													17	52					3.62473e-10	4.554e-10	0.608945	1	0
RBM17	84991	broad.mit.edu	37	10	6157491	6157491	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:6157491G>C	ENST00000446108.1	+	12	1822	c.1178G>C	c.(1177-1179)aGg>aCg	p.R393T	RBM17_ENST00000379888.4_Missense_Mutation_p.R393T|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	393					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.R393T(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GACAAATTCAGGGTCTTGGAT	0.408000													38	167					0	0	0.812448	0	0
ARSH	347527	broad.mit.edu	37	X	2936699	2936699	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:2936699G>T	ENST00000381130.2	+	5	889	c.889G>T	c.(889-891)Gat>Tat	p.D297Y		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	297						integral to membrane	arylsulfatase activity|metal ion binding	p.D297Y(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGAAGAAATGGATTGGATGGT	0.398000													7	27					0.00198382	0.00206495	0.248553	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254905	30254905	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:30254905C>T	ENST00000361644.2	+	5	1601	c.864C>T	c.(862-864)gtC>gtT	p.V288V	MAGEB3_ENST00000378986.1_Silent_p.V288V	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	288	MAGE.							p.V288V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AGATGAAGGTCCTGGAGTTTT	0.493000													11	44					0	0	0.361761	0	0
TBC1D5	9779	broad.mit.edu	37	3	17208408	17208408	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:17208408G>T	ENST00000253692.7	-	21	3609	c.1945C>A	c.(1945-1947)Cta>Ata	p.L649I	TBC1D5_ENST00000429383.4_Missense_Mutation_p.L649I|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.L671I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	649						intracellular	protein binding|Rab GTPase activator activity	p.L649I(2)		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						GAACCTTTTAGAATGTCTTTG	0.423000													17	31					1.15088e-07	1.3334e-07	0.500413	1	0
SLC1A3	6507	broad.mit.edu	37	5	36686351	36686351	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:36686351G>T	ENST00000265113.4	+	10	2085	c.1609G>T	c.(1609-1611)Gac>Tac	p.D537Y	SLC1A3_ENST00000381918.3_Missense_Mutation_p.D492Y|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	537					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.D537Y(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GAAACCCATCGACAGTGAAAC	0.363000													64	128					1.33661e-31	2.62334e-31	0.870114	1	0
OR4K14	122740	broad.mit.edu	37	14	20483031	20483031	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:20483031T>C	ENST00000305045.2	-	1	321	c.322A>G	c.(322-324)Act>Gct	p.T108A		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T108A(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCCCACCAGTAAAGTGCAAG	0.463000													18	76					0	0	0.557998	0	0
GPR32	2854	broad.mit.edu	37	19	51274539	51274539	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:51274539C>T	ENST00000270590.4	+	1	819	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	228						integral to plasma membrane	N-formyl peptide receptor activity	p.P228S(2)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTTCCTGGGGCCCTTAGCAAT	0.597000													22	41					0	0	0.592651	0	0
ITGA8	8516	broad.mit.edu	37	10	15628598	15628598	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:15628598T>A	ENST00000378076.3	-	23	2710	c.2357A>T	c.(2356-2358)cAg>cTg	p.Q786L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	786					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.Q786L(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATTTCCACCTGCGCTACAGC	0.368000													14	55					0	0	0.539581	0	0
EYS	346007	broad.mit.edu	37	6	66053948	66053948	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:66053948G>T	ENST00000503581.1	-	10	2119	c.1582C>A	c.(1582-1584)Cat>Aat	p.H528N	EYS_ENST00000393380.2_Missense_Mutation_p.H528N|EYS_ENST00000370618.3_Missense_Mutation_p.H528N|EYS_ENST00000370621.3_Missense_Mutation_p.H528N|EYS_ENST00000370616.2_Missense_Mutation_p.H528N|EYS_ENST00000342421.5_Missense_Mutation_p.H528N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	528					response to stimulus|visual perception	extracellular region	calcium ion binding	p.H528N(4)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTGCCTTCATGTGGGAACCAA	0.353000													22	86					1.55795e-14	2.31056e-14	0.608945	1	0
ING3	54556	broad.mit.edu	37	7	120608099	120608099	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:120608099G>C	ENST00000315870.5	+	8	816	c.668G>C	c.(667-669)gGg>gCg	p.G223A	ING3_ENST00000431467.1_Missense_Mutation_p.G208A	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	223					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	p.G223A(2)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACTGGTGCAGGGGCAATTACC	0.433000													24	66					0	0	0.639603	0	0
MIR409	574413	broad.mit.edu	37	14	101531710	101531710	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:101531710G>A	ENST00000362237.1	+	0	74					NR_029975.1																						CCCCTTTTCGGTATCAAATTC	0.592000													27	67					0	0	0.706142	0	0
COL6A6	131873	broad.mit.edu	37	3	130313158	130313158	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:130313158C>A	ENST00000358511.6	+	17	4535	c.4504C>A	c.(4504-4506)Cgt>Agt	p.R1502S	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1502S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1502	Triple-helical region.				axon guidance|cell adhesion	collagen		p.R1502S(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCTGGTGACCGTGGAGCAAA	0.463000													29	101					3.73148e-12	5.16515e-12	0.717897	1	0
CHL1	10752	broad.mit.edu	37	3	382518	382518	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:382518G>T	ENST00000256509.2	+	6	1069	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	CHL1_ENST00000397491.2_Missense_Mutation_p.V143L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	143	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.V143L(2)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCCTCTTGAAGTGGAGGAGGG	0.368000													19	41					1.56452e-12	2.19256e-12	0.557998	1	0
CLIP2	7461	broad.mit.edu	37	7	73768231	73768231	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:73768231G>T	ENST00000223398.6	+	4	1027	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	CLIP2_ENST00000361545.5_Missense_Mutation_p.V234L|CLIP2_ENST00000395060.1_Missense_Mutation_p.V234L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	234						microtubule associated complex		p.V234L(2)|p.V234M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAAGACTGGCGTGGTGCGGTA	0.652000													42	180					3.77016e-25	6.83829e-25	0.864702	1	0
ITPR1	3708	broad.mit.edu	37	3	4718485	4718485	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:4718485G>T	ENST00000302640.8	+	23	3272	c.2922_splice	c.e23+1	p.Q974_splice	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Splice_Site_p.Q974_splice|ITPR1_ENST00000423119.2_Splice_Site_p.Q980_splice|ITPR1_ENST00000456211.2_Splice_Site_p.Q965_splice|ITPR1_ENST00000354582.6_Splice_Site_p.Q989_splice|ITPR1_ENST00000357086.4_Splice_Site_p.Q980_splice	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	989					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.Q965H(2)|p.Q974H(2)|p.Q980H(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGATACTCCAGGTATCCACTA	0.547000													9	26					0.000274275	0.000292832	0.307466	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961382	73961382	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:73961382T>C	ENST00000373468.1	-	3	3661	c.3010A>G	c.(3010-3012)Agt>Ggt	p.S1004G	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S1004G			Q5QGS0	K2022_HUMAN	KIAA2022	1004					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.S1004G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAATAATTACTTGAGCTGACA	0.473000													17	71					0	0	0.520397	0	0
TBC1D23	55773	broad.mit.edu	37	3	100002603	100002603	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:100002603C>A	ENST00000394144.4	+	4	431	c.424C>A	c.(424-426)Cgc>Agc	p.R142S	TBC1D23_ENST00000344949.5_Missense_Mutation_p.R142S|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Intron	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	142	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.R142S(4)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCAACTGCCACGCAGCGATTT	0.338000													15	93					1.67942e-08	2.00463e-08	0.539581	1	0
LBX2	85474	broad.mit.edu	37	2	74725064	74725064	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:74725064A>T	ENST00000460508.3	-	2	1031	c.575T>A	c.(574-576)gTg>gAg	p.V192E	LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000377566.4_Missense_Mutation_p.V196E	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	196						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V192E(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCAATCGTCCACCTGTATCTC	0.667000													19	27					0	0	0.667858	0	0
NLRP12	91662	broad.mit.edu	37	19	54304586	54304586	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:54304586T>C	ENST00000324134.6	-	7	2819	c.2651A>G	c.(2650-2652)cAg>cGg	p.Q884R	NLRP12_ENST00000535162.1_Missense_Mutation_p.Q884R|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.Q885R|NLRP12_ENST00000391775.3_Missense_Mutation_p.Q884R|NLRP12_ENST00000391773.1_Missense_Mutation_p.Q885R|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	884					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.Q884R(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTCAGGCTCTGGTTCACACT	0.592000													25	64					0	0	0.717897	0	0
TRIM29	23650	broad.mit.edu	37	11	119996441	119996441	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:119996441C>A	ENST00000341846.5	-	4	1712	c.1291G>T	c.(1291-1293)Gac>Tac	p.D431Y	TRIM29_ENST00000541857.1_Missense_Mutation_p.D164Y|TRIM29_ENST00000529044.1_Missense_Mutation_p.D170Y	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	431					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D431Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGCTCAGGTCCGCCTTGCAC	0.562000													21	81					1.55795e-14	2.31056e-14	0.608945	1	0
LYZL6	57151	broad.mit.edu	37	17	34263771	34263771	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:34263771C>A	ENST00000585556.1	-	4	699	c.365G>T	c.(364-366)gGg>gTg	p.G122V	LYZL6_ENST00000293274.4_Missense_Mutation_p.G122V|LYZL6_ENST00000394523.3_Missense_Mutation_p.G122V			O75951	LYZL6_HUMAN	lysozyme-like 6	122					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G122V(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTGTTCATCCCCCGTGCTCC	0.577000													39	163					3.78316e-11	4.96657e-11	0.819951	1	0
TXLNB	167838	broad.mit.edu	37	6	139583834	139583834	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:139583834G>T	ENST00000358430.3	-	5	996	c.764C>A	c.(763-765)aCg>aAg	p.T255K		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	255						cytoplasm		p.T255K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGGATGTCCGTGAGGGTACT	0.488000													45	117					8.99859e-20	1.50741e-19	0.870114	1	0
OR1D5	8386	broad.mit.edu	37	17	2966144	2966144	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:2966144C>A	ENST00000575751.1	-	1	757	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(4)		kidney(1)|lung(10)	11						AGCAAGCGTCCCATAAAAGAG	0.498000													24	88					7.87624e-14	1.14868e-13	0.639603	1	0
HMCN1	83872	broad.mit.edu	37	1	185959564	185959564	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:185959564G>A	ENST00000271588.4	+	22	3595	c.3366G>A	c.(3364-3366)ccG>ccA	p.P1122P	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.P1122P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1122	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.P1122P(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATCTCACCGTTCTCTCCAA	0.468000													53	126					0	0	0.870114	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661084	162661084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:162661084G>T	ENST00000375514.5	+	4	576	c.289G>T	c.(289-291)Gga>Tga	p.G97*	SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000535165.1_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000446997.1_Nonsense_Mutation_p.G86*	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	86					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.G86*(4)		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						ATTAGAGGATGGAAGGGAGTC	0.378000													3	32					0.004672	0.00481228	0.115264	1	0
CTBP1	1487	broad.mit.edu	37	4	1231831	1231831	+	Missense_Mutation	SNP	G	G	A	rs115638986	by1000genomes	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:1231831G>A	ENST00000510568.1	-	2	893	c.302C>T	c.(301-303)cCg>cTg	p.P101L	CTBP1_ENST00000515690.1_Intron|CTBP1_ENST00000382952.3_Intron|CTBP1_ENST00000290921.6_Intron			Q13363	CTBP1_HUMAN	C-terminal binding protein 1	0					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		ACCTCCTGACGGCGCGGGACG	0.672000													5	14					0	0	0.217242	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738883	176738883	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:176738883C>T	ENST00000367662.3	+	16	5628	c.4464C>T	c.(4462-4464)cgC>cgT	p.R1488R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1488	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1488R(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTGAAACGCTGCTCAATCT	0.522000													22	222					0	0	0.608945	0	0
GFRAL	389400	broad.mit.edu	37	6	55216293	55216293	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:55216293C>A	ENST00000340465.2	+	5	699	c.613C>A	c.(613-615)Ctt>Att	p.L205I		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	205						integral to membrane	receptor activity	p.L205I(2)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAAGAAGCTCTTCACAGCAA	0.428000													48	104					1.61004e-24	2.89367e-24	0.870114	1	0
ACAN	176	broad.mit.edu	37	15	89400186	89400186	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:89400186T>C	ENST00000439576.2	+	12	4744	c.4370T>C	c.(4369-4371)cTa>cCa	p.L1457P	ACAN_ENST00000352105.7_Missense_Mutation_p.L1457P|ACAN_ENST00000559004.1_Missense_Mutation_p.L1457P|ACAN_ENST00000561243.1_Missense_Mutation_p.L1457P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1457					cell adhesion		hyaluronic acid binding|sugar binding	p.L1343P(4)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGAAGTTCTAGAGACTTCT	0.517000													84	149					0	0	0.870114	0	0
SUPT7L	9913	broad.mit.edu	37	2	27884203	27884203	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:27884203C>A	ENST00000337768.5	-	3	636	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	SUPT7L_ENST00000464789.2_Missense_Mutation_p.D21Y|SUPT7L_ENST00000406540.1_Missense_Mutation_p.D21Y|SUPT7L_ENST00000405491.1_Missense_Mutation_p.D21Y|SUPT7L_ENST00000404798.2_Intron	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	23					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.D23Y(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GGGAGCAAATCGAAGGAACTT	0.507000													28	58					3.57733e-08	4.20643e-08	0.740014	1	0
ZNF282	8427	broad.mit.edu	37	7	148921335	148921335	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:148921335C>T	ENST00000262085.3	+	8	1717	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	538					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R538C(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CATCCACCACCGCAGCCACAC	0.682000													11	30					0	0	0.387290	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885855	88885855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:88885855G>T	ENST00000319675.3	-	1	441	c.345C>A	c.(343-345)taC>taA	p.Y115*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	115								p.Y115*(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTTGTGCGGGTATACCCGGA	0.552000													44	157					1.34996e-11	1.81143e-11	0.847076	1	0
ZNF354A	6940	broad.mit.edu	37	5	178139390	178139390	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:178139390T>A	ENST00000335815.2	-	5	1686	c.1489A>T	c.(1489-1491)Aac>Tac	p.N497Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	497					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N497Y(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CCACACTCGTTACATTTATAG	0.388000													50	101					0	0	0.870114	0	0
SH2D2A	9047	broad.mit.edu	37	1	156784833	156784833	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:156784833G>T	ENST00000392306.2	-	3	443	c.304C>A	c.(304-306)Cgg>Agg	p.R102R	SH2D2A_ENST00000495306.1_5'UTR|SH2D2A_ENST00000368198.3_Silent_p.R84R|SH2D2A_ENST00000368199.3_Silent_p.R102R	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	102	SH2.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.R102R(4)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTCACCTCCGGGTGATGAAG	0.637000													5	51					0.000602214	0.000639498	0.184627	1	0
OR6S1	341799	broad.mit.edu	37	14	21108972	21108972	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:21108972A>G	ENST00000320704.3	-	1	878	c.879T>C	c.(877-879)taT>taC	p.Y293Y		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y293Y(2)		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)		TACGTAAGGCATAGATGAATG	0.438000													60	189					0	0	0.870114	0	0
TPRG1	285386	broad.mit.edu	37	3	188925302	188925302	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:188925302G>T	ENST00000345063.3	+	2	296	c.129G>T	c.(127-129)agG>agT	p.R43S	TPRG1_ENST00000433971.1_Missense_Mutation_p.R43S	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	43								p.R43S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AGATTTCAAGGCAGTCAAGTG	0.473000													39	128					4.00102e-26	7.35852e-26	0.819951	1	0
MAPT	4137	broad.mit.edu	37	17	44067349	44067349	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:44067349G>T	ENST00000344290.5	+	8	1610	c.1288G>T	c.(1288-1290)Gct>Tct	p.A430S	MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.A430S|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A430S|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.A430S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	430					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	p.A430S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTCCAGCCCTGCTGTGTGCCC	0.522000													117	388					1.62254e-48	3.38673e-48	0.870114	1	0
TOX2	84969	broad.mit.edu	37	20	42635213	42635213	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:42635213C>A	ENST00000358131.5	+	3	427	c.219C>A	c.(217-219)aaC>aaA	p.N73K	TOX2_ENST00000341197.3_Missense_Mutation_p.N64K|TOX2_ENST00000372999.1_Missense_Mutation_p.N22K|TOX2_ENST00000423191.1_Missense_Mutation_p.N22K	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.N73K(2)|p.N22K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGAGAACAACGAAGACTATG	0.557000													8	90					0.0381472	0.0385874	0.278610	1	0
SPATS1	221409	broad.mit.edu	37	6	44337843	44337843	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:44337843A>G	ENST00000288390.2	+	6	1098	c.751A>G	c.(751-753)Att>Gtt	p.I251V	SPATS1_ENST00000323108.8_Missense_Mutation_p.I251V			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	251								p.I251V(4)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTCCACAAATTCCCAAGTG	0.343000													30	112					0	0	0.729181	0	0
GPM6A	2823	broad.mit.edu	37	4	176556078	176556078	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:176556078T>A	ENST00000280187.7	-	8	860	c.815A>T	c.(814-816)gAg>gTg	p.E272V	GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000515090.1_Missense_Mutation_p.E265V|GPM6A_ENST00000393658.2_Missense_Mutation_p.E272V|GPM6A_ENST00000506894.1_Missense_Mutation_p.E261V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	272						cell surface|integral to membrane		p.E272V(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATTGAGCCGCTCTTTGGAGCG	0.448000													26	68					0	0	0.706142	0	0
PKD1L1	168507	broad.mit.edu	37	7	47869180	47869180	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:47869180C>T	ENST00000289672.2	-	44	6628	c.6578G>A	c.(6577-6579)gGt>gAt	p.G2193D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2193					cell-cell adhesion	integral to membrane		p.G2193D(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCAAGCAAAACCCAAGGCCAT	0.498000													30	205					0	0	0.729181	0	0
ESYT2	57488	broad.mit.edu	37	7	158531731	158531731	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:158531731C>G	ENST00000251527.5	-	18	2396	c.2331G>C	c.(2329-2331)gtG>gtC	p.V777V	ESYT2_ENST00000435514.2_Silent_p.V212V	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	805						integral to membrane|plasma membrane		p.V777V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CATGCACGACCACGATAAGCT	0.607000													25	112					0	0	0.654019	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33643548	33643548	+	Missense_Mutation	SNP	C	C	A	rs138321976		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:33643548C>A	ENST00000504830.1	-	10	1842	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V503L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	503	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V503L(2)		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						AAGCCCTTCACGGAGCACCAC	0.468000										HNSCC(64;0.19)			42	110					1.41504e-22	2.47553e-22	0.859065	1	0
NTSR1	4923	broad.mit.edu	37	20	61386223	61386223	+	Missense_Mutation	SNP	G	G	T	rs148569146	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:61386223G>T	ENST00000370501.3	+	2	1272	c.901G>T	c.(901-903)Ggc>Tgc	p.G301C		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	301						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.G301C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCTGCGGCACGGCGTGCGCGT	0.706000													18	32					1.67942e-08	2.00463e-08	0.539581	1	0
CPQ	10404	broad.mit.edu	37	8	97892084	97892084	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:97892084A>T	ENST00000220763.5	+	4	910	c.700A>T	c.(700-702)Att>Ttt	p.I234F		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	234					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	p.I234F(2)									AACAGCCTGTATTACGGTGGA	0.453000													122	198					0	0	0.870114	0	0
TMEM132E	124842	broad.mit.edu	37	17	32962070	32962070	+	Silent	SNP	G	G	T	rs146893987	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:32962070G>T	ENST00000321639.5	+	8	1999	c.1671G>T	c.(1669-1671)acG>acT	p.T557T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	557						integral to membrane		p.T557T(3)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		ACAGCAGCACGCTGGCAGGAC	0.617000													19	47					6.49762e-13	9.22054e-13	0.539581	1	0
CACNA1H	8912	broad.mit.edu	37	16	1261227	1261227	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:1261227G>T	ENST00000348261.5	+	22	4531	c.4283G>T	c.(4282-4284)aGg>aTg	p.R1428M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1428M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1428M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1428					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	p.R1428M(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCATCACTCAGGCCCATTGGG	0.597000													86	73					1.26005e-42	2.58901e-42	0.870114	1	0
PANX3	116337	broad.mit.edu	37	11	124489566	124489566	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:124489566A>G	ENST00000284288.2	+	4	981	c.914A>G	c.(913-915)tAt>tGt	p.Y305C		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	305					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.Y305C(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTATCTGTCTATGAGATGCTC	0.443000													40	136					0	0	0.840704	0	0
NDST3	9348	broad.mit.edu	37	4	119064823	119064823	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:119064823C>A	ENST00000296499.5	+	6	1926	c.1523C>A	c.(1522-1524)aCt>aAt	p.T508N	NDST3_ENST00000433996.2_Missense_Mutation_p.T427N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	508	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.T508N(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTTTCTTCACTGTCGTCCTC	0.428000													36	76					2.42023e-17	3.84218e-17	0.779181	1	0
UROC1	131669	broad.mit.edu	37	3	126224636	126224636	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:126224636C>T	ENST00000290868.2	-	8	774	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	UROC1_ENST00000383579.3_Missense_Mutation_p.G241R	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	241					histidine catabolic process	cytosol	urocanate hydratase activity	p.G241R(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AAGACCTTCCCAGCCAAGTCC	0.637000													16	67					0	0	0.575678	0	0
ATP6V0B	533	broad.mit.edu	37	1	44441771	44441771	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:44441771G>A	ENST00000532642.1	+	3	223	c.126G>A	c.(124-126)acG>acA	p.T42T	ATP6V0B_ENST00000236067.4_5'UTR|ATP6V0B_ENST00000498664.1_5'UTR|ATP6V0B_ENST00000471859.2_Silent_p.T89T|ATP6V0B_ENST00000472174.2_Silent_p.T42T|ATP6V0B_ENST00000472277.1_3'UTR			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	42					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	p.T42T(2)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGTTCCTGACGGAGACTTCGC	0.562000													15	208					0	0	0.557998	0	0
OR10G8	219869	broad.mit.edu	37	11	123900722	123900722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123900722C>A	ENST00000431524.1	+	1	426	c.393C>A	c.(391-393)taC>taA	p.Y131*		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y131*(2)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CGCTCAGGTACACCAGCATGA	0.542000													58	206					1.46156e-29	2.80576e-29	0.870114	1	0
CD40LG	959	broad.mit.edu	37	X	135730460	135730460	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:135730460C>G	ENST00000370629.2	+	1	109	c.53C>G	c.(52-54)cCc>cGc	p.P18R	CD40LG_ENST00000370628.2_Missense_Mutation_p.P18R	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	18					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.P18R(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	ACTGGACTGCCCATCAGCATG	0.423000									Immune Deficiency with Hyper-IgM				99	52					0	0	0.870114	0	0
ALG2	85365	broad.mit.edu	37	9	101980430	101980430	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:101980430G>A	ENST00000476832.1	-	2	1098	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ALG2_ENST00000319033.6_Missense_Mutation_p.S253L	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	346					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.S346L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGGTCCACCCGAATTAACAGC	0.507000													11	105					0	0	0.361761	0	0
GPR55	9290	broad.mit.edu	37	2	231775240	231775240	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:231775240C>A	ENST00000392040.1	-	2	630	c.438G>T	c.(436-438)tgG>tgT	p.W146C	GPR55_ENST00000392039.2_Missense_Mutation_p.W146C	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	146					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.W146C(2)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ACACCAGGACCCAGATGGTGC	0.542000													43	98					1.57019e-19	2.61368e-19	0.834066	1	0
WBSCR22	114049	broad.mit.edu	37	7	73101344	73101344	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:73101344G>T	ENST00000265758.2	+	5	339	c.281G>T	c.(280-282)cGa>cTa	p.R94L	WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Missense_Mutation_p.R94L	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	94						nucleus	methyltransferase activity	p.R94L(2)		autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCTGTGGACCGAGAGATAGAG	0.522000													27	125					1.17739e-12	1.65591e-12	0.693898	1	0
VEGFC	7424	broad.mit.edu	37	4	177608608	177608608	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:177608608C>A	ENST00000280193.2	-	6	1293	c.878G>T	c.(877-879)tGt>tTt	p.C293F	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	293	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.C293F(2)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCTGCAGACACACTGACAGGT	0.483000													23	89					3.8784e-16	5.94187e-16	0.608945	1	0
ARHGAP5	394	broad.mit.edu	37	14	32560197	32560197	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:32560197C>T	ENST00000345122.3	+	2	637	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R108W|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R108W|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R108W|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	108					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.R108S(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTTGCCTCATCGGAGTACGAA	0.383000													38	131					0	0	0.796494	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513259	106513259	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:106513259G>T	ENST00000359195.3	+	4	2473	c.2163G>T	c.(2161-2163)ctG>ctT	p.L721L	PIK3CG_ENST00000496166.1_Silent_p.L721L|PIK3CG_ENST00000440650.2_Silent_p.L721L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	721					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.L721L(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCCTATCTGAGGGGCTGTG	0.453000													40	107					3.38236e-24	6.03774e-24	0.827153	1	0
VPS13B	157680	broad.mit.edu	37	8	100791128	100791128	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:100791128G>T	ENST00000358544.2	+	42	7834	c.7723G>T	c.(7723-7725)Ggg>Tgg	p.G2575W	VPS13B_ENST00000357162.2_Missense_Mutation_p.G2550W|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2575					protein transport			p.G2550W(2)|p.G2575W(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGCATCTTCGGGCAGATGGC	0.453000													42	165					3.38236e-24	6.03774e-24	0.827153	1	0
AKNA	80709	broad.mit.edu	37	9	117139580	117139580	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:117139580C>A	ENST00000307564.4	-	3	668	c.507G>T	c.(505-507)agG>agT	p.R169S	AKNA_ENST00000374075.5_Missense_Mutation_p.R88S|AKNA_ENST00000374088.3_Missense_Mutation_p.R169S|AKNA_ENST00000312033.3_Missense_Mutation_p.R169S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R169S(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCACCCAGCCCCTGGCCTGAC	0.592000													37	62					2.79145e-41	5.70584e-41	0.870114	1	0
SLC5A12	159963	broad.mit.edu	37	11	26700315	26700315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:26700315C>A	ENST00000396005.3	-	13	1832	c.1523G>T	c.(1522-1524)aGt>aTt	p.S508I		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	508					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.S508I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCCCACTGCACTGTAGTAAAG	0.463000													44	86					7.05121e-23	1.23907e-22	0.853193	1	0
TUBB6	84617	broad.mit.edu	37	18	12325202	12325202	+	Missense_Mutation	SNP	G	G	C	rs148645230	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:12325202G>C	ENST00000591208.1	+	5	363	c.332G>C	c.(331-333)cGc>cCc	p.R111P	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000317702.5_Silent_p.S138S|TUBB6_ENST00000586653.1_3'UTR	NM_032525.1	NP_115914.1	Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	0					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.S138S(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		TCACGCACTCGCTGGGCGGCG	0.657000													35	62					0	0	0.779181	0	0
TNNI3K	51086	broad.mit.edu	37	1	74902192	74902192	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:74902192C>T	ENST00000370891.2	+	21	2179	c.2163C>T	c.(2161-2163)aaC>aaT	p.N721N	TNNI3K_ENST00000326637.3_Silent_p.N620N|FPGT-TNNI3K_ENST00000557284.1_Silent_p.N721N|FPGT-TNNI3K_ENST00000370899.3_Silent_p.N721N	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase									p.N620N(2)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						ATGAAGACAACATGACAAAAC	0.358000													10	74					0	0	0.387290	0	0
ALOX5	240	broad.mit.edu	37	10	45938974	45938974	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:45938974G>A	ENST00000374391.2	+	11	1615	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	ALOX5_ENST00000542434.1_Missense_Mutation_p.R521H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	521	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.R521H(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	ATGCGGGGCCGCAAGTCCTCA	0.692000													4	32					0	0	0.150653	0	0
PTPRC	5788	broad.mit.edu	37	1	198721475	198721475	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:198721475G>T	ENST00000367376.2	+	30	3470	c.3299G>T	c.(3298-3300)cGt>cTt	p.R1100L	PTPRC_ENST00000442510.2_Missense_Mutation_p.R1102L|PTPRC_ENST00000348564.6_Missense_Mutation_p.R941L|PTPRC_ENST00000594404.1_Missense_Mutation_p.R939L|PTPRC_ENST00000352140.3_Missense_Mutation_p.R1052L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1100	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1100L(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TATACCCTTCGTGTCTTTGAA	0.358000													16	86					4.14922e-12	5.71332e-12	0.500413	1	0
PZP	5858	broad.mit.edu	37	12	9302192	9302192	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:9302192G>T	ENST00000261336.2	-	35	4419	c.4391C>A	c.(4390-4392)tCt>tAt	p.S1464Y	PZP_ENST00000381997.2_Missense_Mutation_p.S1250Y	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.S1250Y(2)|p.S1464Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGCAACCACAGACTCATCTGA	0.463000													30	71					1.06801e-11	1.43799e-11	0.740014	1	0
TRBV7-8	28590	broad.mit.edu	37	7	142099485	142099485	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:142099485G>T	ENST00000390359.3	-	0	355																											ATACACGGCGGAGTCCTCCTG	0.557000													21	121					6.33239e-15	9.49858e-15	0.592651	1	0
MEGF10	84466	broad.mit.edu	37	5	126774191	126774191	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:126774191C>A	ENST00000274473.6	+	18	2432	c.2165C>A	c.(2164-2166)gCt>gAt	p.A722D	MEGF10_ENST00000503335.2_Missense_Mutation_p.A722D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	722	EGF-like 13.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.A722D(2)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CATAATGGAGCTTTCTGCAGC	0.532000													38	103					1.03172e-35	2.06607e-35	0.870114	1	0
BAZ2B	29994	broad.mit.edu	37	2	160229615	160229615	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:160229615C>G	ENST00000392783.2	-	27	4649	c.4154G>C	c.(4153-4155)cGg>cCg	p.R1385P	BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1285P|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1349P|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1351P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R1385P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AATCCAGTACCGGCGTCTGTA	0.428000													12	85					0	0	0.457914	0	0
TTN	7273	broad.mit.edu	37	2	179433781	179433781	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179433781A>C	ENST00000589042.1	-	326	77302	c.77078T>G	c.(77077-77079)aTt>aGt	p.I25693S	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I16753S|TTN_ENST00000342992.6_Missense_Mutation_p.I23125S|TTN_ENST00000342175.6_Missense_Mutation_p.I16820S|TTN_ENST00000460472.2_Missense_Mutation_p.I16628S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I24052S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24052	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I23123S(2)|p.I23125S(2)|p.I16628S(2)|p.I16753S(2)|p.I16820S(2)		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)			TGCAACCTTAATTGGATCAGC	0.443000													48	136					0	0	0.864702	0	0
COL8A2	1296	broad.mit.edu	37	1	36563472	36563472	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:36563472C>A	ENST00000397799.1	-	4	2034	c.1810G>T	c.(1810-1812)Ggc>Tgc	p.G604C	COL8A2_ENST00000303143.4_Missense_Mutation_p.G604C|COL8A2_ENST00000481785.1_Missense_Mutation_p.G539C			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	604	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	p.G604C(2)		NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGTTGTAGCCGCTGTGGCCA	0.622000													19	37					6.33239e-15	9.49858e-15	0.592651	1	0
COL4A1	1282	broad.mit.edu	37	13	110863998	110863998	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:110863998A>T	ENST00000375820.4	-	8	585	c.464T>A	c.(463-465)aTg>aAg	p.M155K	COL4A1_ENST00000543140.1_Missense_Mutation_p.M155K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	155					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.M155K(2)		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)			ATGTACCTTCATCCCTGGTAA	0.313000													14	36					0	0	0.457914	0	0
MYH11	4629	broad.mit.edu	37	16	15829246	15829246	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:15829246G>T	ENST00000338282.6	-	26	3589	c.3483C>A	c.(3481-3483)agC>agA	p.S1161R	MYH11_ENST00000300036.5_Missense_Mutation_p.S1161R|MYH11_ENST00000396324.3_Missense_Mutation_p.S1168R|MYH11_ENST00000452625.2_Missense_Mutation_p.S1168R|MYH11_ENST00000576790.1_Missense_Mutation_p.S1161R	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1161					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.S1168R(2)|p.S1161R(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAGTGGCTGTGCTGTCCAGTG	0.602000			T	CBFB	AML								24	82					1.22384e-17	1.97465e-17	0.769981	1	0
ABCC11	85320	broad.mit.edu	37	16	48218375	48218375	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:48218375G>T	ENST00000394747.1	-	22	3583	c.3234C>A	c.(3232-3234)gtC>gtA	p.V1078V	ABCC11_ENST00000356608.2_Silent_p.V1078V|ABCC11_ENST00000353782.5_Silent_p.V1078V|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.V1078V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1078	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V1078V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGACAGCCATGACTTTAAAGG	0.562000													62	94					9.4991e-31	1.85975e-30	0.870114	1	0
DAB1	1600	broad.mit.edu	37	1	57611099	57611099	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:57611099T>A	ENST00000371236.2	-	3	334	c.71A>T	c.(70-72)cAg>cTg	p.Q24L	DAB1_ENST00000371231.1_Missense_Mutation_p.Q24L|DAB1_ENST00000414851.2_Missense_Mutation_p.Q24L|DAB1_ENST00000420954.2_Missense_Mutation_p.Q24L|DAB1_ENST00000371234.4_Missense_Mutation_p.Q24L|DAB1_ENST00000439789.2_Missense_Mutation_p.Q24L|DAB1_ENST00000371230.1_Missense_Mutation_p.Q24L|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	24					cell differentiation|nervous system development			p.Q24L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACTGCGATCCTGACCTAAAAA	0.458000													20	71					0	0	0.592651	0	0
SGIP1	84251	broad.mit.edu	37	1	67108500	67108500	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:67108500C>A	ENST00000371037.4	+	6	313	c.236C>A	c.(235-237)cCt>cAt	p.P79H	SGIP1_ENST00000371035.3_Missense_Mutation_p.P36H|SGIP1_ENST00000371036.3_Missense_Mutation_p.P54H|SGIP1_ENST00000371039.1_Missense_Mutation_p.P55H|SGIP1_ENST00000237247.6_Missense_Mutation_p.P83H|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	79					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.P79H(2)|p.P55H(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAGAACTCACCTGAGCTGGAT	0.328000													17	58					2.4624e-09	3.00748e-09	0.575678	1	0
DPEP3	64180	broad.mit.edu	37	16	68010643	68010643	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:68010643C>T	ENST00000268793.4	-	8	1502	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	352					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.E377K(2)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCGATGAACTCAGATCCAATG	0.562000													7	47					0	0	0.278610	0	0
COL3A1	1281	broad.mit.edu	37	2	189859297	189859297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:189859297G>T	ENST00000304636.3	+	19	1494	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.E442*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	442	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.E442*(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGCCAAAGGAGAGCCCGGACC	0.398000													16	69					3.41278e-10	4.3083e-10	0.520397	1	0
HECW1	23072	broad.mit.edu	37	7	43436451	43436451	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:43436451A>G	ENST00000395891.1	+	7	1199	c.594A>G	c.(592-594)ggA>ggG	p.G198G	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Silent_p.G198G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	198	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.G177G(2)|p.G198G(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCGTCCAAGGACAAGGAAGTC	0.423000													14	118					0	0	0.435327	0	0
MYH2	4620	broad.mit.edu	37	17	10432233	10432233	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:10432233C>A	ENST00000245503.5	-	27	3902	c.3518G>T	c.(3517-3519)cGg>cTg	p.R1173L	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1173L|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1173					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1173L(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCAGCCTCCCGCTTCTTGTT	0.597000													69	128					5.46685e-50	1.14412e-49	0.870114	1	0
CCER1	196477	broad.mit.edu	37	12	91347339	91347339	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:91347339G>A	ENST00000358859.2	-	1	1614	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1									p.P394L(2)									GGATTCCTGTGGCACTTTGGG	0.408000													58	68					0	0	0.870114	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128061	117128061	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:117128061G>C	ENST00000310357.3	-	3	828	c.807C>G	c.(805-807)gcC>gcG	p.A269A	GPRC6A_ENST00000368549.3_Silent_p.A269A|GPRC6A_ENST00000530250.1_Silent_p.A269A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	269					response to amino acid stimulus		G-protein coupled receptor activity	p.A269A(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CATTAACCTGGGCTTCTAAAA	0.363000													34	68					0	0	0.760397	0	0
HJURP	55355	broad.mit.edu	37	2	234750371	234750371	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:234750371C>A	ENST00000411486.2	-	8	1120	c.1055G>T	c.(1054-1056)gGt>gTt	p.G352V	HJURP_ENST00000432087.1_Missense_Mutation_p.G298V|HJURP_ENST00000441687.1_Missense_Mutation_p.G267V	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	352					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.G352F(2)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CAATTTTAAACCTGTCTTACG	0.433000													9	78					0.000274275	0.000292832	0.307466	1	0
CUX1	1523	broad.mit.edu	37	7	101892232	101892232	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:101892232G>T	ENST00000360264.3	+	24	4481	c.4461G>T	c.(4459-4461)ctG>ctT	p.L1487L	CUX1_ENST00000550008.2_Silent_p.L1420L|CUX1_ENST00000292535.7_Silent_p.L1476L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Silent_p.L1318L|CUX1_ENST00000549414.2_Silent_p.L1454L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.L1374L|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1476					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L1476L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ACAACCCCCTGCGCAAGAAGA	0.697000													5	10					0.014758	0.015044	0.184627	1	0
PROKR2	128674	broad.mit.edu	37	20	5294629	5294629	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:5294629G>T	ENST00000546004.1	-	2	633	c.387C>A	c.(385-387)gcC>gcA	p.A129A	PROKR2_ENST00000217270.3_Silent_p.A129A			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	129						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A129A(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						AGTTGACGGAGGCACAGAGCA	0.607000										HNSCC(71;0.22)			18	44					9.16793e-09	1.09932e-08	0.520397	1	0
DDX42	11325	broad.mit.edu	37	17	61864590	61864590	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:61864590A>C	ENST00000578681.1	+	3	782	c.181A>C	c.(181-183)Aaa>Caa	p.K61Q	DDX42_ENST00000457800.2_Missense_Mutation_p.K61Q|DDX42_ENST00000389924.2_Missense_Mutation_p.K61Q|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.K61Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	61					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.K61Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCTTTCTACAAAATTGGATC	0.448000													44	133					0	0	0.870114	0	0
ATP1A4	480	broad.mit.edu	37	1	160146346	160146346	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:160146346T>A	ENST00000368081.4	+	17	3015	c.2544T>A	c.(2542-2544)gaT>gaA	p.D848E	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	848					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.D848E(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAAGACGGATAATCTGGTGA	0.567000													25	70					0	0	0.667858	0	0
STRIP1	85369	broad.mit.edu	37	1	110584388	110584388	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:110584388A>T	ENST00000369795.3	+	8	812	c.790A>T	c.(790-792)Atc>Ttc	p.I264F	STRIP1_ENST00000369796.1_Missense_Mutation_p.I169F	NM_033088.2	NP_149079.2			striatin interacting protein 1									p.I264F(2)									GCCATTTGCCATCATGCTGTT	0.532000													75	258					0	0	0.870114	0	0
NBAS	51594	broad.mit.edu	37	2	15470780	15470780	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:15470780T>A	ENST00000281513.5	-	36	4314	c.4289A>T	c.(4288-4290)cAg>cTg	p.Q1430L	NBAS_ENST00000441750.1_Missense_Mutation_p.Q1310L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1430								p.Q1430L(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGACGGCCTGCAGCACCGC	0.493000													25	63					0	0	0.681144	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364128	43364128	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:43364128G>A	ENST00000344686.2	-	0	927							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.P274P(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAGGTTTCCAGGGCTGGAGAG	0.622000													9	21					0	0	0.387290	0	0
DYTN	391475	broad.mit.edu	37	2	207528121	207528121	+	Splice_Site	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:207528121T>A	ENST00000452335.2	-	11	1257		c.e11-2			NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin							plasma membrane	zinc ion binding	p.?(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CAACCTTGCCTGGGGAAACAA	0.378000													12	32					0	0	0.411799	0	0
GPR148	344561	broad.mit.edu	37	2	131487640	131487640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:131487640G>T	ENST00000309926.4	+	1	998	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	306						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E306*(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGCTAACAGTGAGGTACTCAT	0.597000													16	126					2.35188e-11	3.11348e-11	0.539581	1	0
MUC17	140453	broad.mit.edu	37	7	100678561	100678561	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100678561G>T	ENST00000306151.4	+	3	3928	c.3864G>T	c.(3862-3864)acG>acT	p.T1288T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1288	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1288T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCTGGTGACCA	0.473000													89	427					2.68325e-40	5.44238e-40	0.870114	1	0
FGF20	26281	broad.mit.edu	37	8	16850805	16850805	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:16850805T>A	ENST00000180166.5	-	3	560	c.412A>T	c.(412-414)Atc>Ttc	p.I138F		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	138					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	p.I138F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCCTAAAGATGCATTCGGAA	0.328000													16	222					0	0	0.479597	0	0
MUC17	140453	broad.mit.edu	37	7	100675547	100675547	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100675547G>A	ENST00000306151.4	+	3	914	c.850G>A	c.(850-852)Gtg>Atg	p.V284M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	284	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.V284M(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCTCTCAGCGTGATGCTGGT	0.507000													37	251					0	0	0.788014	0	0
OR13F1	138805	broad.mit.edu	37	9	107267441	107267441	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:107267441G>T	ENST00000334726.2	+	1	987	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A300S(2)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGAAAGTGGCCTTGAAAAA	0.358000													9	69					1.12685e-05	1.24174e-05	0.307466	1	0
DYSF	8291	broad.mit.edu	37	2	71827833	71827833	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:71827833G>T	ENST00000258104.3	+	34	3981	c.3702_splice	c.e34-1	p.G1235_splice	DYSF_ENST00000409366.1_Splice_Site_p.G1236_splice|DYSF_ENST00000409744.1_Splice_Site_p.G1222_splice|DYSF_ENST00000410041.1_Splice_Site_p.G1253_splice|DYSF_ENST00000410020.3_Splice_Site_p.G1253_splice|DYSF_ENST00000409651.1_Splice_Site_p.G1267_splice|DYSF_ENST00000429174.2_Splice_Site_p.G1235_splice|DYSF_ENST00000394120.2_Splice_Site_p.G1236_splice|DYSF_ENST00000409762.1_Splice_Site_p.G1252_splice|DYSF_ENST00000409582.3_Splice_Site_p.G1252_splice|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Splice_Site_p.G1266_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1235	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.G1235V(2)|p.G1253V(2)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTGGTCTAGGGTGCAGACGAG	0.577000													106	193					2.68927e-46	5.58377e-46	0.870114	1	0
ACTN2	88	broad.mit.edu	37	1	236907995	236907995	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:236907995G>T	ENST00000366578.4	+	12	1491	c.1325G>T	c.(1324-1326)cGg>cTg	p.R442L	ACTN2_ENST00000542672.1_Missense_Mutation_p.R442L|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	442					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.R442L(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTCTGCTGCGGAAGCACGAG	0.592000													19	76					4.63292e-17	7.29616e-17	0.575678	1	0
BBOX1	8424	broad.mit.edu	37	11	27147256	27147256	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:27147256A>T	ENST00000263182.3	+	8	1260	c.892A>T	c.(892-894)Aca>Tca	p.T298S	RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.T298S|BBOX1_ENST00000525090.1_Missense_Mutation_p.T298S|BBOX1_ENST00000528583.1_Missense_Mutation_p.T298S|RP11-1L12.3_ENST00000530430.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	298					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.T298S(2)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	aactagggacacaatatttga	0.348000													11	22					0	0	0.361761	0	0
NLRP3	114548	broad.mit.edu	37	1	247587961	247587961	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:247587961T>C	ENST00000366497.2	+	4	1996	c.1216T>C	c.(1216-1218)Ttc>Ctc	p.F406L	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.F406L|NLRP3_ENST00000391828.3_Missense_Mutation_p.F406L|NLRP3_ENST00000366496.2_Missense_Mutation_p.F406L|NLRP3_ENST00000348069.2_Missense_Mutation_p.F406L|NLRP3_ENST00000336119.3_Missense_Mutation_p.F406L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	406	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.F406L(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGAGGTCCTCTTCACCATGTG	0.532000													28	132					0	0	0.693898	0	0
ADCY9	115	broad.mit.edu	37	16	4164474	4164474	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:4164474C>T	ENST00000294016.3	-	2	1508	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	324					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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.E324K(2)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTTCCACTTCCAGGTCCTTC	0.522000													55	163					0	0	0.870114	0	0
RFC1	5981	broad.mit.edu	37	4	39314400	39314400	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:39314400C>A	ENST00000381897.1	-	11	1488	c.1355G>T	c.(1354-1356)cGt>cTt	p.R452L	RFC1_ENST00000349703.2_Missense_Mutation_p.R452L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	452	BRCT.				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.R452L(2)|p.R452H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCACTATCACGACCCATGAC	0.453000													103	273					1.47424e-42	3.02123e-42	0.870114	1	0
C1orf200	644997	broad.mit.edu	37	1	9714056	9714056	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:9714056G>T	ENST00000377320.3	-	2	434	c.285C>A	c.(283-285)ctC>ctA	p.L95L	PIK3CD_ENST00000377346.4_Intron|PIK3CD_ENST00000536656.1_Intron					chromosome 1 open reading frame 200									p.L95L(1)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		ttgaagccaggagttcaaggt	0.527000													6	28					5.9392e-07	6.7522e-07	0.217242	1	0
PDE3A	5139	broad.mit.edu	37	12	20801733	20801733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:20801733G>T	ENST00000359062.3	+	13	2717	c.2677G>T	c.(2677-2679)Gaa>Taa	p.E893*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	893	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E893*(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGACCATGTGGAATTTAAGCA	0.403000													33	105					1.74807e-11	2.32193e-11	0.750413	1	0
CPXM2	119587	broad.mit.edu	37	10	125528162	125528162	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:125528162C>A	ENST00000241305.3	-	9	1333	c.1179G>T	c.(1177-1179)gtG>gtT	p.V393V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	393					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.V393V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACACGAACTGCACCAGCAGCA	0.627000													43	120					2.24722e-20	3.80484e-20	0.870114	1	0
ZNF521	25925	broad.mit.edu	37	18	22902056	22902056	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:22902056C>A	ENST00000361524.3	-	3	284	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L	ZNF521_ENST00000538137.2_Missense_Mutation_p.V46L|ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	46					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.V46L(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGCTGTGCACAGCTTCGTCT	0.463000			T	PAX5	ALL								46	96					1.06522e-23	1.88444e-23	0.864702	1	0
CCDC13	152206	broad.mit.edu	37	3	42799619	42799619	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:42799619C>A	ENST00000310232.6	-	2	302	c.219G>T	c.(217-219)aaG>aaT	p.K73N	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	73								p.K73N(2)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCATTTACCTCTTCTCAAAGC	0.488000													20	43					5.03518e-11	6.57742e-11	0.557998	1	0
HNF4G	3174	broad.mit.edu	37	8	76452274	76452274	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:76452274C>A	ENST00000396423.2	+	1	171	c.47C>A	c.(46-48)aCt>aAt	p.T16N	HNF4G_ENST00000354370.1_Intron	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	0					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.T16N(2)		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)			ACTTACACAACTTTGGAGTTT	0.343000													38	102					2.40579e-17	3.83469e-17	0.819951	1	0
RELN	5649	broad.mit.edu	37	7	103275876	103275876	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:103275876G>T	ENST00000428762.1	-	19	2620	c.2461C>A	c.(2461-2463)Ccc>Acc	p.P821T	RELN_ENST00000343529.5_Missense_Mutation_p.P821T|RELN_ENST00000424685.2_Missense_Mutation_p.P821T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	821					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	p.P821T(2)		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)		ACATACCTGGGCTCATGATAG	0.368000													29	90					1.55811e-20	2.64946e-20	0.729181	1	0
SLC8A3	6547	broad.mit.edu	37	14	70515594	70515594	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:70515594C>G	ENST00000381269.2	-	7	3050	c.2297G>C	c.(2296-2298)gGc>gCc	p.G766A	SLC8A3_ENST00000356921.2_Missense_Mutation_p.G760A|SLC8A3_ENST00000394330.2_Missense_Mutation_p.G123A|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G764A|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G764A|SLC8A3_ENST00000533541.1_Missense_Mutation_p.G123A|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G763A|SLC8A3_ENST00000216568.7_Missense_Mutation_p.G137A	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	766					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G766A(2)|p.G764A(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTGAGCATGCCAATGATGAG	0.572000													7	35					0	0	0.278610	0	0
CIZ1	25792	broad.mit.edu	37	9	130941294	130941294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:130941294C>A	ENST00000538431.1	-	8	1439	c.1192G>T	c.(1192-1194)Gag>Tag	p.E398*	CIZ1_ENST00000541172.1_Nonsense_Mutation_p.E297*|CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000372938.5_Nonsense_Mutation_p.E398*|CIZ1_ENST00000393608.1_Nonsense_Mutation_p.E398*|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Nonsense_Mutation_p.E369*|CIZ1_ENST00000357558.5_Nonsense_Mutation_p.E398*|CIZ1_ENST00000277465.4_Nonsense_Mutation_p.E398*	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	398	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						ttcagcggctctgcctcctgc	0.642000													4	56					0.184627	0.185568	0.184627	1	0
KCTD8	386617	broad.mit.edu	37	4	44449622	44449622	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:44449622C>A	ENST00000360029.3	-	1	1202	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	307						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D307Y(2)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATCTTGTCGTCGCGGTACTGG	0.632000										HNSCC(17;0.042)			5	33					0.00116845	0.0012292	0.217242	1	0
ZEB2	9839	broad.mit.edu	37	2	145274897	145274897	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:145274897C>A	ENST00000558170.2	-	2	1205	c.21G>T	c.(19-21)gcG>gcT	p.A7A	ZEB2_ENST00000470879.1_Silent_p.A7A|ZEB2_ENST00000539609.3_Silent_p.A7A|ZEB2_ENST00000465070.1_Silent_p.A7A|ZEB2_ENST00000462355.1_Silent_p.A7A|ZEB2_ENST00000409487.3_Silent_p.A7A|ZEB2_ENST00000303660.4_Silent_p.A7A|ZEB2_ENST00000493689.1_5'UTR	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	7						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.A7A(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGGGCCATCCGCCATGATCG	0.587000													12	78					0.00010058	0.000107969	0.411799	1	0
TRBV7-3	28595	broad.mit.edu	37	7	142247121	142247121	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:142247121G>T	ENST00000390361.3	-	0	384																											TAAGCTGCTGGCACAGAGATA	0.537000													21	94					3.8784e-16	5.94187e-16	0.608945	1	0
CHI3L2	1117	broad.mit.edu	37	1	111778693	111778693	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:111778693G>T	ENST00000445067.2	+	9	1424	c.653G>T	c.(652-654)tGg>tTg	p.W218L	CHI3L2_ENST00000466741.1_Missense_Mutation_p.W139L|CHI3L2_ENST00000369748.4_Missense_Mutation_p.W218L|CHI3L2_ENST00000524472.1_Missense_Mutation_p.W139L|CHI3L2_ENST00000369744.2_Missense_Mutation_p.W208L			Q15782	CH3L2_HUMAN	chitinase 3-like 2	218					chitin catabolic process	extracellular space	cation binding|chitinase activity	p.W218L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CATGGGTCTTGGGAAAAGCCC	0.512000													48	165					8.72198e-27	1.61921e-26	0.870114	1	0
CYP26B1	56603	broad.mit.edu	37	2	72374759	72374759	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:72374759C>A	ENST00000001146.2	-	1	408		c.e1+1		CYP26B1_ENST00000546307.1_Splice_Site	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1						cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.?(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGCGCCCTTACCTGCAGCAGC	0.736000													25	16					1.55469e-16	2.40993e-16	0.654019	1	0
CNGA2	1260	broad.mit.edu	37	X	150912077	150912077	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:150912077G>A	ENST00000329903.4	+	6	1135	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	368					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.V368M(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCACCATCGTGGGAAATGT	0.507000													81	76					0	0	0.870114	0	0
COL14A1	7373	broad.mit.edu	37	8	121220515	121220515	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:121220515G>A	ENST00000297848.3	+	11	1506	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L	COL14A1_ENST00000537875.1_Silent_p.L412L|COL14A1_ENST00000309791.4_Silent_p.L412L|COL14A1_ENST00000247781.3_Silent_p.L317L|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	412	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.L412L(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGAAAAACTTGATGTCTTTAA	0.388000													32	62					0	0	0.740014	0	0
ACADL	33	broad.mit.edu	37	2	211085421	211085421	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:211085421C>G	ENST00000233710.3	-	2	410	c.183G>C	c.(181-183)cgG>cgC	p.R61R	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	61					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	p.R61R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TTACACTTTTCCGGAAAATGT	0.383000													36	92					0	0	0.788014	0	0
LCE1E	353135	broad.mit.edu	37	1	152759841	152759841	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:152759841C>T	ENST00000368770.3	+	2	119	c.66C>T	c.(64-66)ccC>ccT	p.P22P	LCE1E_ENST00000368771.1_Silent_p.P22P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	22	Cys-rich.				keratinization			p.P22P(2)		lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgccctcccaagtgTCCCA	0.622000													97	259					0	0	0.870114	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729153	66729153	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:66729153T>A	ENST00000307102.5	+	3	892	c.361T>A	c.(361-363)Tgc>Agc	p.C121S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	121	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C121S(4)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TCTGCATGAGTGCAACTCTCC	0.502000													37	68					0	0	0.788014	0	0
ZAN	7455	broad.mit.edu	37	7	100373326	100373326	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100373326C>A	ENST00000542585.1	+	0	6208				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.Q2021K(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCGCCATCTCCCAGATCCCTG	0.537000													8	78					7.48243e-07	8.44583e-07	0.335167	1	0
RBM10	8241	broad.mit.edu	37	X	47032551	47032551	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:47032551G>T	ENST00000377604.3	+	5	1199	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	RBM10_ENST00000345781.6_Missense_Mutation_p.G76C|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Missense_Mutation_p.G76C	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	153	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.G153C(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCAGTCGCACGGCGTGCAAGC	0.607000													11	14					2.27111e-07	2.60831e-07	0.411799	1	0
UNC13C	440279	broad.mit.edu	37	15	54586108	54586108	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:54586108C>A	ENST00000545554.1	+	10	3834	c.3834C>A	c.(3832-3834)tcC>tcA	p.S1278S	UNC13C_ENST00000537900.1_Silent_p.S1276S|UNC13C_ENST00000260323.11_Silent_p.S1278S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1278	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S1278S(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCATAACTCCACAGATCGAA	0.323000													27	46					4.72057e-08	5.53422e-08	0.667858	1	0
LOC643711	643711	broad.mit.edu	37	12	98126388	98126388	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:98126388G>T	ENST00000550548.1	-	0	382					NR_077240.1																						TTCTCTCCTTGGGTGTTCCTC	0.478000													6	14					3.59834e-05	3.91059e-05	0.217242	1	0
HOXC6	3223	broad.mit.edu	37	12	54423739	54423739	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:54423739A>C	ENST00000394331.3	+	3	2165	c.455A>C	c.(454-456)aAa>aCa	p.K152T	HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.K234T	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	234					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.K234T(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAGAAGCAGAAAGAGTGACCA	0.582000													6	12					0	0	0.248553	0	0
OR5B12	390191	broad.mit.edu	37	11	58207543	58207543	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:58207543C>A	ENST00000302572.2	-	1	103	c.82G>T	c.(82-84)Gtc>Ttc	p.V28F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V28F(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAAGGAAGACTATGAAGAGT	0.468000													34	88					2.47316e-13	3.57385e-13	0.779181	1	0
ATP2A1	487	broad.mit.edu	37	16	28906166	28906166	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:28906166C>A	ENST00000395503.4	+	12	1495	c.1311C>A	c.(1309-1311)gtC>gtA	p.V437V	ATP2A1_ENST00000357084.3_Silent_p.V437V|ATP2A1_ENST00000536376.1_Silent_p.V312V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	437					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.V437V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATGAGAAGGTCGGCGAGGCCA	0.572000													13	120					5.50884e-06	6.11318e-06	0.411799	1	0
SLC22A16	85413	broad.mit.edu	37	6	110757068	110757068	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:110757068G>T	ENST00000368919.3	-	6	1474	c.1408C>A	c.(1408-1410)Cca>Aca	p.P470T	SLC22A16_ENST00000439654.1_Missense_Mutation_p.P470T|SLC22A16_ENST00000330550.4_Missense_Mutation_p.P436T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	470					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.P470T(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACAATGGTTGGATACAGCTCA	0.373000													21	77					4.54149e-19	7.4963e-19	0.624587	1	0
MAGEC3	139081	broad.mit.edu	37	X	140985421	140985421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:140985421C>A	ENST00000544766.1	+	5	1510	c.983C>A	c.(982-984)tCa>tAa	p.S328*	MAGEC3_ENST00000298296.1_Missense_Mutation_p.Q579K|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.S328*|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.S328*|MAGEC3_ENST00000443323.2_Nonsense_Mutation_p.S248*	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	44	MAGE 1.		A -> T (in dbSNP:rs176026).					p.Q579K(2)|p.S328*(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCCATTCAGAGGCCAGC	0.473000													104	44					3.06722e-38	6.20521e-38	0.870114	1	0
PCDH11X	27328	broad.mit.edu	37	X	91131866	91131866	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:91131866G>T	ENST00000373094.1	+	2	1472	c.627G>T	c.(625-627)agG>agT	p.R209S	PCDH11X_ENST00000298274.8_Missense_Mutation_p.R209S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R209S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R209S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	209	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.R209S(6)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTTAGATAGGGAAGAGAAGG	0.403000													102	54					2.2063e-47	4.59306e-47	0.870114	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178564850	178564850	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:178564850T>G	ENST00000251582.7	-	12	1972	c.1871A>C	c.(1870-1872)gAg>gCg	p.E624A		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	624	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E624A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCACTGCTCCTCGCGGAAGTC	0.701000													4	1					0	0	0.150653	0	0
TMC1	117531	broad.mit.edu	37	9	75387409	75387409	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:75387409G>A	ENST00000297784.5	+	13	1362	c.822G>A	c.(820-822)ccG>ccA	p.P274P	TMC1_ENST00000340019.3_Silent_p.P274P|TMC1_ENST00000396237.3_Silent_p.P274P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	274					sensory perception of sound	integral to membrane		p.P274P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGGTTGCCGCTCTCCTATT	0.383000													52	210					0	0	0.870114	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206927	142206927	+	RNA	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:142206927A>G	ENST00000426318.2	-	0	84																											CACAGCAGACAAAGGGCCACA	0.552000													23	81					0	0	0.654019	0	0
BBS2	583	broad.mit.edu	37	16	56536304	56536304	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:56536304C>A	ENST00000245157.5	-	9	1425	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	BBS2_ENST00000568104.1_Missense_Mutation_p.Q335H|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	335					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.Q335H(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GGATCAGGTCCTGCTCTGCAC	0.522000									Bardet-Biedl syndrome				56	224					3.19069e-20	5.37917e-20	0.870114	1	0
SELP	6403	broad.mit.edu	37	1	169566297	169566297	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:169566297A>T	ENST00000263686.6	-	11	1860	c.1823T>A	c.(1822-1824)cTg>cAg	p.L608Q	SELP_ENST00000367786.2_Missense_Mutation_p.L546Q|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.L546Q|SELP_ENST00000367794.2_Missense_Mutation_p.L546Q|SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.L546Q	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	608	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.L608Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGGCCCCTCCAGCTTAAAGCC	0.483000													15	138					0	0	0.479597	0	0
KIF2B	84643	broad.mit.edu	37	17	51901354	51901354	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:51901354G>T	ENST00000268919.4	+	1	1116	c.960G>T	c.(958-960)acG>acT	p.T320T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	320	Kinesin-motor.			T -> K (in Ref. 2; BAB71406).	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T320T(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTCAGGAACGGCCCAAGATT	0.522000													41	129					3.61848e-18	5.87444e-18	0.834066	1	0
ATP8A2	51761	broad.mit.edu	37	13	26043257	26043257	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:26043257C>A	ENST00000381655.2	+	2	361	c.219C>A	c.(217-219)atC>atA	p.I73I	ATP8A2_ENST00000255283.8_Silent_p.I33I	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	33					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	p.I73I(1)		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)		ACAACCAGATCAGGTAGGAGA	0.667000													9	27					2.74318e-10	3.4853e-10	0.335167	1	0
C1orf56	54964	broad.mit.edu	37	1	151020974	151020974	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:151020974C>A	ENST00000368926.5	+	1	759	c.651C>A	c.(649-651)acC>acA	p.T217T		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	217						extracellular region		p.T217T(2)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTCGGGCACCATGAGCCGGA	0.677000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	171					4.6707e-30	9.03231e-30	0.870114	1	0
BAZ2B	29994	broad.mit.edu	37	2	160294973	160294973	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:160294973C>A	ENST00000392783.2	-	8	1629	c.1134G>T	c.(1132-1134)acG>acT	p.T378T	BAZ2B_ENST00000343439.5_Silent_p.T376T|BAZ2B_ENST00000392782.1_Silent_p.T376T|BAZ2B_ENST00000355831.2_Silent_p.T378T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.T378T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACACCAATCCCGTAGACTGTA	0.408000													18	142					7.05477e-17	1.10441e-16	0.520397	1	0
NLRP4	147945	broad.mit.edu	37	19	56369712	56369712	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:56369712C>A	ENST00000301295.6	+	3	1375	c.953C>A	c.(952-954)cCg>cAg	p.P318Q	NLRP4_ENST00000346986.5_Missense_Mutation_p.P318Q|NLRP4_ENST00000587891.1_Missense_Mutation_p.P243Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	318	NACHT.						ATP binding	p.P318Q(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCAAAGACCCGAAAAGAGCC	0.483000													37	58					6.90743e-12	9.41271e-12	0.788014	1	0
FRMD3	257019	broad.mit.edu	37	9	85905627	85905627	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:85905627C>G	ENST00000304195.3	-	13	1292	c.1086G>C	c.(1084-1086)caG>caC	p.Q362H	FRMD3_ENST00000376438.1_Missense_Mutation_p.Q362H|FRMD3_ENST00000376434.1_Missense_Mutation_p.Q168H	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	362						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.Q362H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AACTGCGGCTCTGAGTAATGT	0.527000													28	92					0	0	0.729181	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590641	136590641	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:136590641C>A	ENST00000531224.1	-	9	2405	c.2153G>T	c.(2152-2154)aGt>aTt	p.S718I	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S716I|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S716I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S716I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S718I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S545I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	718					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S718I(2)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTGATCCACTGGATTCCCT	0.403000													19	126					8.28177e-16	1.26145e-15	0.557998	1	0
NCAPG2	54892	broad.mit.edu	37	7	158494630	158494630	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:158494630C>A	ENST00000409339.3	-	2	75		c.e2-1		NCAPG2_ENST00000449727.2_Splice_Site|NCAPG2_ENST00000409423.1_Splice_Site|NCAPG2_ENST00000356309.3_Splice_Site			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2						cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TTTTGTAACCCTAATGGAAAA	0.358000													18	60					1.02788e-11	1.38633e-11	0.520397	1	0
CXCL6	6372	broad.mit.edu	37	4	74702735	74702735	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:74702735C>T	ENST00000226317.5	+	2	418	c.164C>T	c.(163-165)aCg>aTg	p.T55M	CXCL6_ENST00000515050.1_Missense_Mutation_p.T55M	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	55					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	p.T55M(2)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTACGCGTTACGCTGAGAGTA	0.527000													37	94					0	0	0.796494	0	0
FABP6	2172	broad.mit.edu	37	5	159656578	159656578	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:159656578G>A	ENST00000393980.4	+	4	307	c.161G>A	c.(160-162)gGc>gAc	p.G54D	FABP6_ENST00000393982.1_Missense_Mutation_p.G54D|FABP6_ENST00000402432.3_Missense_Mutation_p.G5D	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	5					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	p.G54D(1)|p.G5D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTCACCGGCAAGTTCGAG	0.537000													5	247					0	0	0.217242	0	0
TIAM1	7074	broad.mit.edu	37	21	32525054	32525054	+	Missense_Mutation	SNP	G	G	A	rs148623159		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:32525054G>A	ENST00000286827.3	-	20	3737	c.3266C>T	c.(3265-3267)aCg>aTg	p.T1089M	TIAM1_ENST00000541036.1_Missense_Mutation_p.T1029M	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1089	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.T1089M(6)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TACCATTTCCGTTAAATTTCC	0.333000													7	56					0	0	0.248553	0	0
NUP210L	91181	broad.mit.edu	37	1	153995618	153995618	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:153995618C>T	ENST00000368559.3	-	31	4349	c.4278G>A	c.(4276-4278)caG>caA	p.Q1426Q	NUP210L_ENST00000368553.1_Silent_p.Q359Q|NUP210L_ENST00000271854.3_Silent_p.Q1426Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1426						integral to membrane		p.Q1426Q(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCAGATAAAGCTGGGTATTGT	0.408000													41	136					0	0	0.840704	0	0
MUC17	140453	broad.mit.edu	37	7	100683947	100683947	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100683947A>G	ENST00000306151.4	+	3	9314	c.9250A>G	c.(9250-9252)Agt>Ggt	p.S3084G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3084	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3084G(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACTGAAGTCAGTTCATCTCC	0.507000													98	422					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179567349	179567349	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179567349C>A	ENST00000589042.1	-	107	30489	c.30265G>T	c.(30265-30267)Gtg>Ttg	p.V10089L	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V8845L|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V9772L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9772	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V8845L(2)		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)			TGCTCACTCACCACGATGTTC	0.403000													39	96					8.73648e-17	1.36497e-16	0.796494	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121652315	121652315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:121652315C>A	ENST00000393386.2	+	12	3626	c.3215C>A	c.(3214-3216)cCc>cAc	p.P1072H	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1072					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P1072H(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACAGTCATGCCCAACATGTAT	0.388000													29	105					4.43304e-23	7.80729e-23	0.706142	1	0
PPP1R18	170954	broad.mit.edu	37	6	30652408	30652408	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:30652408C>G	ENST00000274853.3	-	1	3264	c.1388G>C	c.(1387-1389)gGg>gCg	p.G463A	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.G463A	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	463						cytoplasm|cytoskeleton	actin binding	p.G463A(1)									GCGGGGGGCCCCCACCCCTGG	0.697000													3	6					0	0	0.184627	0	0
TIGD4	201798	broad.mit.edu	37	4	153692094	153692094	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:153692094T>C	ENST00000304337.2	-	2	883	c.63A>G	c.(61-63)ctA>ctG	p.L21L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	21	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.L21L(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CCTCAATGGATAGGCTTTTCT	0.388000													36	107					0	0	0.804634	0	0
SOHLH1	402381	broad.mit.edu	37	9	138586907	138586907	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:138586907C>T	ENST00000298466.5	-	6	924	c.864G>A	c.(862-864)gcG>gcA	p.A288A	SOHLH1_ENST00000425225.1_Silent_p.A288A	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	288					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.A288A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CGGCCTCCTGCGCCAGCATGG	0.697000													3	22					0	0	0.115264	0	0
AGMO	392636	broad.mit.edu	37	7	15430314	15430314	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:15430314A>T	ENST00000342526.3	-	8	973	c.804T>A	c.(802-804)ttT>ttA	p.F268L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	268					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.F268L(2)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TGATTGGTTCAAATGTATTAA	0.289000													21	122					0	0	0.608945	0	0
DAB1	1600	broad.mit.edu	37	1	57611039	57611039	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:57611039G>T	ENST00000371236.2	-	3	394	c.131C>A	c.(130-132)gCc>gAc	p.A44D	DAB1_ENST00000371231.1_Missense_Mutation_p.A44D|DAB1_ENST00000414851.2_Missense_Mutation_p.A44D|DAB1_ENST00000420954.2_Missense_Mutation_p.A44D|DAB1_ENST00000371234.4_Missense_Mutation_p.A44D|DAB1_ENST00000439789.2_Missense_Mutation_p.A44D|DAB1_ENST00000371230.1_Missense_Mutation_p.A44D|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	44	PID.				cell differentiation|nervous system development			p.A44D(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GATCAATTTGGCTTTGTACCG	0.418000													30	96					1.88708e-17	3.02624e-17	0.729181	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735298	55735298	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55735298G>A	ENST00000312345.2	-	1	692	c.642C>T	c.(640-642)tcC>tcT	p.S214S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S214S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCAAAATGTTGGAGATAATTT	0.393000													20	49					0	0	0.557998	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605833	58605833	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:58605833G>T	ENST00000287275.1	-	3	477	c.87C>A	c.(85-87)ggC>ggA	p.G29G	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.G29G	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	29						mitochondrion	glycine N-acyltransferase activity	p.G29G(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGAAAATGGCGCCATATACCT	0.418000													13	41					2.27111e-07	2.60831e-07	0.411799	1	0
LRRC8D	55144	broad.mit.edu	37	1	90399760	90399760	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:90399760T>G	ENST00000337338.5	+	3	1540	c.1133T>G	c.(1132-1134)tTt>tGt	p.F378C	LRRC8D_ENST00000394593.3_Missense_Mutation_p.F378C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	378						integral to membrane	protein binding	p.F378C(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTTTATGGCTTTATCTGCCTC	0.368000													19	164					0	0	0.539581	0	0
KCNG1	3755	broad.mit.edu	37	20	49626742	49626742	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:49626742C>A	ENST00000371571.4	-	2	419	c.134G>T	c.(133-135)cGg>cTg	p.R45L	KCNG1_ENST00000396017.3_Missense_Mutation_p.R45L	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	45						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R45L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGGCCGCAGCCGCTGCGCCCG	0.706000													16	21					5.03518e-11	6.57742e-11	0.557998	1	0
HPS3	84343	broad.mit.edu	37	3	148863150	148863150	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:148863150C>G	ENST00000296051.2	+	5	1120	c.980C>G	c.(979-981)aCa>aGa	p.T327R	HPS3_ENST00000460120.1_Missense_Mutation_p.T162R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	327						cytoplasm		p.T327R(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGTTCTCTTACATCTGATGGA	0.343000									Hermansky-Pudlak syndrome				27	87					0	0	0.667858	0	0
F2RL3	9002	broad.mit.edu	37	19	17000732	17000732	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:17000732C>T	ENST00000248076.3	+	2	788	c.458C>T	c.(457-459)aCg>aTg	p.T153M	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	153					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	p.T153M(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGCCTGGCCACGGCCGCACTC	0.736000													4	5					0	0	0.150653	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													5	74					0	0	0.248553	0	0
SVILP1	645954	broad.mit.edu	37	10	30986327	30986327	+	RNA	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:30986327G>C	ENST00000435645.1	+	0	317																											TGCAGACCAGGCTGGTGGAAC	0.587000													5	21					0	0	0.184627	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030031	95030031	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:95030031C>A	ENST00000557004.1	+	2	633	c.212C>A	c.(211-213)cCg>cAg	p.P71Q	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.P71Q|SERPINA4_ENST00000555095.1_Missense_Mutation_p.P71Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	71					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.P71Q(3)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCGGAGACCCCGGGGAAGAAC	0.607000													52	102					9.57592e-29	1.80751e-28	0.870114	1	0
SH2B2	10603	broad.mit.edu	37	7	101944560	101944560	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:101944560C>T	ENST00000536178.1	+	2	900	c.855C>T	c.(853-855)ccC>ccT	p.P285P	SH2B2_ENST00000306803.8_Silent_p.P242P			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	242	PH.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	p.P285P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TCGTGCCGCCCAAAGTGAGTT	0.687000													4	16					0	0	0.150653	0	0
JAM2	58494	broad.mit.edu	37	21	27062220	27062220	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:27062220C>A	ENST00000480456.1	+	3	726	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	JAM2_ENST00000425221.2_Intron|JAM2_ENST00000400532.1_Missense_Mutation_p.S59Y|JAM2_ENST00000312957.5_Missense_Mutation_p.S59Y	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	59	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.S59Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACTGTTTCCTCCAGATTAGAG	0.403000													43	170					5.48756e-27	1.02115e-26	0.859065	1	0
HOXA5	3202	broad.mit.edu	37	7	27181480	27181480	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:27181480C>A	ENST00000222726.3	-	2	847	c.787G>T	c.(787-789)Gcg>Tcg	p.A263S	HOXA3_ENST00000467897.2_Intron|HOXA5_ENST00000520854.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	263					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A263S(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CCTCCTGCCGCGGCCATGCTC	0.468000											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	144					1.67942e-08	2.00463e-08	0.539581	1	0
FILIP1	27145	broad.mit.edu	37	6	76023009	76023009	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:76023009C>A	ENST00000393004.2	-	5	2760	c.2539G>T	c.(2539-2541)Gtg>Ttg	p.V847L	FILIP1_ENST00000237172.7_Missense_Mutation_p.V847L|FILIP1_ENST00000370020.1_Missense_Mutation_p.V748L|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	847								p.V847L(2)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GATCTTTCCACGGGTTTCTTC	0.453000													82	253					1.10181e-30	2.15181e-30	0.870114	1	0
SLC16A1	6566	broad.mit.edu	37	1	113456702	113456702	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:113456702G>A	ENST00000538576.1	-	5	2145	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	SLC16A1_ENST00000369626.3_Silent_p.F438F	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	438					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.F438F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CCATGCCAATGAAGAGATAGA	0.398000													42	163					0	0	0.834066	0	0
LRP5	4041	broad.mit.edu	37	11	68178930	68178930	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:68178930G>A	ENST00000294304.7	+	11	2451	c.2345G>A	c.(2344-2346)gGc>gAc	p.G782D		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	782	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTGGGGCGGCAAGCCGAGG	0.642000													4	77					0	0	0.184627	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21355423	21355423	+	Splice_Site	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:21355423A>C	ENST00000256958.2	+	10	1231		c.e10-1			NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTTTTTTCTAGGAGTCATAA	0.269000													13	25					0	0	0.411799	0	0
FGF14	2259	broad.mit.edu	37	13	102378993	102378993	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:102378993T>G	ENST00000376131.4	-	4	686	c.591A>C	c.(589-591)ccA>ccC	p.P197P	FGF14_ENST00000376143.4_Silent_p.P192P	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	192					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.P192P(2)|p.P197P(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATGAGCTGCTGGTTTGGTTT	0.363000													27	44					0	0	0.681144	0	0
ADRA1A	148	broad.mit.edu	37	8	26721658	26721658	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:26721658C>G	ENST00000380573.3	-	2	1852	c.829G>C	c.(829-831)Gtg>Ctg	p.V277L	ADRA1A_ENST00000380582.3_Missense_Mutation_p.V277L|ADRA1A_ENST00000380572.3_Missense_Mutation_p.V277L|ADRA1A_ENST00000380581.2_Missense_Mutation_p.V277L|ADRA1A_ENST00000358857.5_Missense_Mutation_p.V277L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V277L|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V277L|ADRA1A_ENST00000380587.1_Missense_Mutation_p.V277L|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V277L|ADRA1A_ENST00000519229.1_Missense_Mutation_p.V277L			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	277					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.V277L(10)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CAGCCGACCACGATGCCCAGC	0.572000													14	31					0	0	0.500413	0	0
FAM21EP	100421577	broad.mit.edu	37	10	51821252	51821252	+	RNA	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:51821252C>T	ENST00000456967.1	-	0	1382					NR_038275.1																						TCATCCTCATCATCAAAGAGC	0.557000													61	124					0	0	0.870114	0	0
DDI1	414301	broad.mit.edu	37	11	103908255	103908255	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:103908255C>A	ENST00000302259.3	+	1	948	c.705C>A	c.(703-705)ccC>ccA	p.P235P	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	235					proteolysis		aspartic-type endopeptidase activity	p.P235P(6)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AAGAGGCCCCCGAGAGTTTTG	0.478000													49	181					4.10826e-27	7.68109e-27	0.870114	1	0
TRMT1L	81627	broad.mit.edu	37	1	185106753	185106753	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:185106753C>G	ENST00000367504.3	-	10	1769	c.1030G>C	c.(1030-1032)Ggt>Cgt	p.G344R	TRMT1L_ENST00000367506.5_Missense_Mutation_p.G500R			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	500						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	p.G500R(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCATATTACCATCCTTCTGA	0.348000													11	170					0	0	0.361761	0	0
SNORD115-42	100033816	broad.mit.edu	37	15	25492500	25492500	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:25492500G>T	ENST00000364273.1	+	0	9					NR_003357.1																						TTGGGTCGATGATGAGAACCT	0.512000													77	218					9.35569e-46	1.93237e-45	0.870114	1	0
MYH6	4624	broad.mit.edu	37	14	23866764	23866764	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:23866764C>A	ENST00000405093.3	-	16	2020	c.1950G>T	c.(1948-1950)tcG>tcT	p.S650S	MYH6_ENST00000356287.3_Silent_p.S650S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	650	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.S650S(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTGGAGAGCCGACACCGTCT	0.542000													39	142					2.58029e-29	4.94137e-29	0.847076	1	0
USO1	8615	broad.mit.edu	37	4	76714849	76714849	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:76714849G>T	ENST00000538159.1	+	13	1253	c.1253G>T	c.(1252-1254)gGt>gTt	p.G418V	USO1_ENST00000514213.2_Missense_Mutation_p.G401V			O60763	USO1_HUMAN	USO1 vesicle transport factor	416	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	p.G418V(2)|p.G344V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTAGCAACAGGTAATTCAGTT	0.368000													10	24					0.010729	0.0109938	0.387290	1	0
MYO3B	140469	broad.mit.edu	37	2	171509600	171509600	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:171509600C>A	ENST00000334231.6	+	35	4022	c.4022C>A	c.(4021-4023)tCc>tAc	p.S1341Y	MYO3B_ENST00000408978.4_Missense_Mutation_p.S1332Y|AC007277.3_ENST00000428156.1_RNA|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.S1305Y			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1332					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.S1332Y(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTTTCTTCATCCTCAAAAGGA	0.418000													18	150					1.56452e-12	2.19256e-12	0.557998	1	0
DRD5	1816	broad.mit.edu	37	4	9784629	9784629	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:9784629C>A	ENST00000304374.2	+	1	1372	c.976C>A	c.(976-978)Ccc>Acc	p.P326T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	326					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.P326T(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGTGGACACCCCGAAGGCCC	0.587000													65	209					8.83742e-36	1.77423e-35	0.870114	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138768597	138768597	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:138768597G>A	ENST00000242351.5	-	3	942	c.626C>T	c.(625-627)cCc>cTc	p.P209L	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P209L|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P209L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	209					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.P209L(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GACCACGTCGGGGTTCAGCCC	0.547000													32	88					0	0	0.729181	0	0
MMRN1	22915	broad.mit.edu	37	4	90857151	90857151	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:90857151A>T	ENST00000394980.1	+	7	2639	c.2320A>T	c.(2320-2322)Aca>Tca	p.T774S	MMRN1_ENST00000264790.2_Missense_Mutation_p.T774S|MMRN1_ENST00000508372.1_Missense_Mutation_p.T516S|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	774					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.T774S(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AACTATTTTGACATTTATTCC	0.353000													25	74					0	0	0.654019	0	0
MYH7	4625	broad.mit.edu	37	14	23886823	23886823	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:23886823C>A	ENST00000355349.3	-	31	4404	c.4242G>T	c.(4240-4242)ctG>ctT	p.L1414L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1414			L -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1415*(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGTCTTCTCCAGCGAGGAGC	0.612000													27	109					5.60225e-13	7.97865e-13	0.740014	1	0
LY9	4063	broad.mit.edu	37	1	160784485	160784485	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:160784485C>A	ENST00000368040.1	+	0	1056				LY9_ENST00000368041.2_Missense_Mutation_p.H296N|LY9_ENST00000368035.1_De_novo_Start_OutOfFrame|LY9_ENST00000341032.4_Missense_Mutation_p.H336N|LY9_ENST00000263285.5_Missense_Mutation_p.H336N			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.H336N(2)		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)			CGGCCCCTACCATGCCTACGT	0.572000													29	69					9.80776e-20	1.63947e-19	0.706142	1	0
FMNL3	91010	broad.mit.edu	37	12	50045837	50045837	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:50045837C>G	ENST00000335154.5	-	14	1715	c.1482G>C	c.(1480-1482)ctG>ctC	p.L494L	FMNL3_ENST00000293590.5_Silent_p.L494L|FMNL3_ENST00000352151.5_Silent_p.L443L|FMNL3_ENST00000550488.1_Silent_p.L494L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	494					actin cytoskeleton organization		actin binding|Rho GTPase binding	p.L494L(4)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGCCCTCACTCAGCTCTGCAG	0.652000													10	18					0	0	0.361761	0	0
MYH7	4625	broad.mit.edu	37	14	23886822	23886822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:23886822C>A	ENST00000355349.3	-	31	4405	c.4243G>T	c.(4243-4245)Gag>Tag	p.E1415*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1415					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1415*(2)|p.E1415Q(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGGTCTTCTCCAGCGAGGAG	0.607000													26	109					5.60225e-13	7.97865e-13	0.740014	1	0
LDLRAD4	753	broad.mit.edu	37	18	13645329	13645329	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:13645329G>T	ENST00000361205.4	+	7	1262	c.594G>T	c.(592-594)atG>atT	p.M198I	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.M180I|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.M143I|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.M198I|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.M100I|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.M121I|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.M161I	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4									p.M161I(2)|p.M198I(2)									AACAGCAGATGGAACTCAACC	0.567000													37	121					7.61165e-28	1.43332e-27	0.788014	1	0
VPS13C	54832	broad.mit.edu	37	15	62304305	62304305	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:62304305C>A	ENST00000261517.5	-	12	957		c.e12+1		VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization			p.?(4)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTATTACTTACTGTATTGATA	0.244000													7	29					8.12818e-05	8.73724e-05	0.248553	1	0
DHX30	22907	broad.mit.edu	37	3	47882439	47882439	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:47882439G>T	ENST00000446256.2	+	8	894	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	DHX30_ENST00000348968.4_Missense_Mutation_p.G119C|DHX30_ENST00000457607.1_Missense_Mutation_p.G175C|DHX30_ENST00000445061.1_Missense_Mutation_p.G147C	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	147	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.G147C(2)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGATCGCTTTGGCTCCCCTGC	0.602000													30	44					1.88708e-17	3.02624e-17	0.729181	1	0
OR5D16	390144	broad.mit.edu	37	11	55607101	55607101	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55607101T>A	ENST00000378396.1	+	1	874	c.874T>A	c.(874-876)Tac>Aac	p.Y292N		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y292N(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCCCCTGATCTACAGTCTGAG	0.378000													27	90					0	0	0.681144	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192299	132192299	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:132192299C>A	ENST00000359827.3	-	2	2116	c.1154G>T	c.(1153-1155)tGg>tTg	p.W385L	PLXNA4_ENST00000423507.2_Missense_Mutation_p.W385L|PLXNA4_ENST00000321063.4_Missense_Mutation_p.W385L|PLXNA4_ENST00000378539.5_Missense_Mutation_p.W385L			Q9HCM2	PLXA4_HUMAN	plexin A4	385	Sema.					integral to membrane|intracellular|plasma membrane		p.W385L(8)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACCTTGAGCCAGGCCAGGTC	0.602000													23	96					1.96895e-08	2.32909e-08	0.639603	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639359	18639359	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:18639359A>C	ENST00000380548.4	+	7	1123	c.784A>C	c.(784-786)Aaa>Caa	p.K262Q	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.K262Q|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.K262Q|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.K262Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	262						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.K262Q(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATTTCCAGACAAAGAGATACT	0.443000													4	48					0	0	0.217242	0	0
TIGD2	166815	broad.mit.edu	37	4	90034726	90034726	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:90034726G>T	ENST00000317005.2	+	1	759	c.601G>T	c.(601-603)Ggg>Tgg	p.G201W		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	201	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.G201W(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAGTACTTCTGGGTGTAGGTC	0.408000													38	82					1.07637e-12	1.51924e-12	0.804634	1	0
CES5A	221223	broad.mit.edu	37	16	55880525	55880525	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:55880525G>T	ENST00000521992.1	-	14	1798	c.1653C>A	c.(1651-1653)gaC>gaA	p.D551E	CES5A_ENST00000518005.1_Missense_Mutation_p.D416E|CES5A_ENST00000520435.1_Missense_Mutation_p.D492E|CES5A_ENST00000290567.9_Missense_Mutation_p.D522E|CES5A_ENST00000319165.9_Missense_Mutation_p.D472E|CES5A_ENST00000541580.1_5'UTR	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	522						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.D551E(2)|p.D472E(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCATGTTCAAGTCCAGCTGGA	0.537000													238	454					5.8372e-104	1.24474e-103	0.870114	1	0
ASIC1	41	broad.mit.edu	37	12	50472204	50472204	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:50472204C>A	ENST00000228468.4	+	6	1223	c.837_splice	c.e6-1	p.L280_splice	ASIC1_ENST00000552438.1_Splice_Site_p.L314_splice|ASIC1_ENST00000447966.2_Splice_Site_p.L280_splice	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	280					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.L280I(2)								Amiloride(DB00594)	CTCCCAGCAGCTCATCTACCT	0.582000													55	92					1.39843e-22	2.45191e-22	0.870114	1	0
ROCK1	6093	broad.mit.edu	37	18	18622649	18622649	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:18622649T>C	ENST00000399799.1	-	7	1637	c.697A>G	c.(697-699)Aca>Gca	p.T233A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	233	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.T233A(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CCAACCGCTGTATCACATCGT	0.378000													35	96					0	0	0.788014	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746032	37746032	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:37746032A>T	ENST00000539465.1	+	16	4596	c.4003A>T	c.(4003-4005)Agc>Tgc	p.S1335C	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1335C|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1335						cytoskeleton|cytosol|plasma membrane		p.S1335C(2)		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)		GGACCAGTGCAGCTGTCAGTT	0.577000													37	233					0	0	0.796494	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378101	138378101	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:138378101T>G	ENST00000356818.2	+	4	2294	c.1745T>G	c.(1744-1746)cTc>cGc	p.L582R	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.L582R|PPP1R26_ENST00000605660.1_Missense_Mutation_p.L582R|PPP1R26_ENST00000604351.1_Missense_Mutation_p.L582R|PPP1R26_ENST00000401470.3_Missense_Mutation_p.L582R	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	582						nucleolus	protein binding	p.L582R(2)									AAGACCCCTCTCTCTAAAACA	0.612000													57	109					0	0	0.870114	0	0
ZP4	57829	broad.mit.edu	37	1	238053457	238053457	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:238053457G>T	ENST00000366570.4	-	2	353	c.195C>A	c.(193-195)caC>caA	p.H65Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	65					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.H65Q(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTGCAGCTCGTGCAGCAGCC	0.552000													47	135					8.86878e-18	1.43685e-17	0.870114	1	0
C1orf52	148423	broad.mit.edu	37	1	85725280	85725280	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:85725280C>A	ENST00000471115.1	-	1	45	c.37G>T	c.(37-39)Gcg>Tcg	p.A13S	C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.A13S	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	13								p.A13S(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCGTATGCCGCAAAATAGCTC	0.652000											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	16					8.12818e-05	8.73724e-05	0.248553	1	0
OR5H1	26341	broad.mit.edu	37	3	97851886	97851886	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:97851886G>T	ENST00000354565.2	+	1	345	c.345G>T	c.(343-345)ttG>ttT	p.L115F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L115F(2)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTTTTCTCTTGGCAACGATGG	0.383000													67	218					2.3441e-25	4.28124e-25	0.870114	1	0
IGFLR1	79713	broad.mit.edu	37	19	36230498	36230498	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:36230498A>G	ENST00000592537.1	-	5	851	c.751T>C	c.(751-753)Tct>Cct	p.S251P	AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000344990.3_Missense_Mutation_p.S63P|IGFLR1_ENST00000246532.1_Missense_Mutation_p.S251P|IGFLR1_ENST00000592889.1_Missense_Mutation_p.S63P|IGFLR1_ENST00000588992.1_Missense_Mutation_p.S83P			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	251						integral to membrane|plasma membrane	protein binding|receptor activity	p.S251P(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AGGAGGCGAGACAGGGGTTGT	0.627000													38	90					0	0	0.827153	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873373	91873373	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:91873373C>A	ENST00000373094.1	+	7	4323	c.3478C>A	c.(3478-3480)Cat>Aat	p.H1160N	PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1123N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1150N|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1152N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1123N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1142N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1160					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.H1160N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCTCTGGATCATTCCAGCTC	0.542000													71	59					2.10328e-26	3.87732e-26	0.870114	1	0
LINGO1	84894	broad.mit.edu	37	15	77907260	77907260	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:77907260G>T	ENST00000355300.6	-	2	1163	c.989C>A	c.(988-990)gCc>gAc	p.A330D	LINGO1_ENST00000561030.1_Missense_Mutation_p.A324D	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	330					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		p.A324D(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCCGCGGAAGGCATAGGGCTC	0.617000													11	17					1.08611e-07	1.26206e-07	0.387290	1	0
SUCO	51430	broad.mit.edu	37	1	172558355	172558355	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:172558355G>T	ENST00000367723.3	+	17	2694	c.2570G>T	c.(2569-2571)aGt>aTt	p.S857I	SUCO_ENST00000263688.3_Missense_Mutation_p.S705I	NM_016227.2	NP_057311.2			SUN domain containing ossification factor									p.S705I(2)|p.S857I(2)									TTAAGTAGTAGTATGCACCAG	0.388000													75	166					1.15074e-40	2.34004e-40	0.870114	1	0
TRPM3	80036	broad.mit.edu	37	9	73253977	73253977	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:73253977G>T	ENST00000377110.2	-	11	1823	c.1581_splice	c.e11+1	p.T527_splice	TRPM3_ENST00000423814.3_Splice_Site_p.T554_splice|TRPM3_ENST00000377106.1_Splice_Site_p.T399_splice|TRPM3_ENST00000377105.1_Splice_Site_p.T374_splice|TRPM3_ENST00000408909.2_Splice_Site_p.T374_splice|TRPM3_ENST00000396280.5_Splice_Site_p.T374_splice|TRPM3_ENST00000377111.2_Splice_Site_p.T527_splice|TRPM3_ENST00000396285.1_Splice_Site_p.T374_splice|TRPM3_ENST00000360823.2_Splice_Site_p.T399_splice|TRPM3_ENST00000358082.3_Splice_Site_p.T399_splice|TRPM3_ENST00000396292.4_Splice_Site_p.T399_splice|TRPM3_ENST00000357533.2_Splice_Site_p.T529_splice	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	552						integral to membrane	calcium channel activity	p.T529K(1)|p.T399K(1)|p.T527K(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGGCCCTACCGTATTGTACAA	0.418000													23	104					1.66031e-10	2.13005e-10	0.667858	1	0
CDH7	1005	broad.mit.edu	37	18	63511299	63511299	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:63511299G>C	ENST00000536984.2	+	7	1927	c.1233G>C	c.(1231-1233)gtG>gtC	p.V411V	CDH7_ENST00000323011.3_Silent_p.V411V|CDH7_ENST00000397968.2_Silent_p.V411V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	411	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V411V(4)		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)				ATAGCCCTGTGAGGTAAAAAC	0.418000													39	78					0	0	0.819951	0	0
DGKI	9162	broad.mit.edu	37	7	137172361	137172361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:137172361G>A	ENST00000453654.1	-	23	2016	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	DGKI_ENST00000288490.5_Nonsense_Mutation_p.Q793*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.Q775*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.Q796*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	793	DAGKc.				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	p.Q793*(4)|p.Q793E(2)		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						CTCACCTCCTGTAGGCGGTCT	0.388000													41	192					0	0	0.870114	0	0
SSU72	29101	broad.mit.edu	37	1	1500240	1500240	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:1500240C>T	ENST00000359060.4	-	2	163	c.137G>A	c.(136-138)gGa>gAa	p.G46E	SSU72_ENST00000291386.3_Missense_Mutation_p.G46E			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	46					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	p.G46E(2)		large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGGAGCTGGTCCTGGAAGCTT	0.458000													26	94					0	0	0.667858	0	0
TRADD	8717	broad.mit.edu	37	16	67190465	67190465	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:67190465C>A	ENST00000345057.4	-	2	567	c.99G>T	c.(97-99)gcG>gcT	p.A33A	TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	33					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	p.A33A(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCTGGGGGTGCGCGTAGGCAT	0.632000											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	178					3.77016e-25	6.83829e-25	0.864702	1	0
PMEPA1	56937	broad.mit.edu	37	20	56227123	56227123	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:56227123C>T	ENST00000341744.3	-	4	1169	c.850G>A	c.(850-852)Gga>Aga	p.G284R	PMEPA1_ENST00000347215.4_Missense_Mutation_p.G249R|PMEPA1_ENST00000265626.4_Missense_Mutation_p.G234R|PMEPA1_ENST00000395814.1_Missense_Mutation_p.G234R|PMEPA1_ENST00000395816.3_Missense_Mutation_p.G234R	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	284					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	p.G284R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGAGGGTGTCCTTTCTGTTTA	0.627000													3	12					0	0	0.115264	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284406	118284406	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:118284406C>A	ENST00000402510.2	-	1	136	c.137G>T	c.(136-138)tGt>tTt	p.C46F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	46								p.C46F(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACAACTGCAACAGCCTTGGGA	0.572000													24	27					2.27525e-19	3.77932e-19	0.667858	1	0
GPR31	2853	broad.mit.edu	37	6	167571250	167571250	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:167571250C>G	ENST00000366834.1	-	1	567	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	24						integral to plasma membrane	G-protein coupled receptor activity	p.E24Q(2)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGCCCACACTCCAGCCCCAGC	0.657000													9	27					0	0	0.361761	0	0
FGF13	2258	broad.mit.edu	37	X	137715045	137715045	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:137715045C>G	ENST00000315930.6	-	5	1365	c.704G>C	c.(703-705)gGa>gCa	p.G235A	FGF13_ENST00000370603.3_Missense_Mutation_p.G245A|FGF13_ENST00000441825.2_Missense_Mutation_p.G216A|FGF13_ENST00000541469.1_Missense_Mutation_p.G189A|FGF13_ENST00000305414.4_Missense_Mutation_p.G182A	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	235					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.G182A(2)|p.G235A(2)|p.G245A(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGATTTGCCTCCGTTCAGCAC	0.527000													150	92					0	0	0.870114	0	0
THBS2	7058	broad.mit.edu	37	6	169648571	169648571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:169648571G>A	ENST00000366787.3	-	4	799	c.550C>T	c.(550-552)Cag>Tag	p.Q184*		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	184	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.Q184*(2)		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)		TTTTCCGCCTGCAGGTGCTCG	0.617000													66	229					0	0	0.870114	0	0
SLC9A8	23315	broad.mit.edu	37	20	48504417	48504417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:48504417G>T	ENST00000417961.1	+	16	1948	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*	SLC9A8_ENST00000361573.2_Nonsense_Mutation_p.E564*|SLC9A8_ENST00000541138.1_Nonsense_Mutation_p.E264*|SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000539601.1_Nonsense_Mutation_p.E345*	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	564						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	p.E564*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CAAGTGGTACGAGGAGGTACG	0.657000													41	91					4.67007e-22	8.11604e-22	0.840704	1	0
BAI3	577	broad.mit.edu	37	6	69759227	69759227	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:69759227G>T	ENST00000370598.1	+	15	3143	c.2322G>T	c.(2320-2322)ttG>ttT	p.L774F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	774					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L774F(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCTAATTTTGCCCACTTTGA	0.289000													6	52					0.00116845	0.0012292	0.217242	1	0
DMXL1	1657	broad.mit.edu	37	5	118468880	118468880	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:118468880G>T	ENST00000311085.8	+	11	1449	c.1369G>T	c.(1369-1371)Ggc>Tgc	p.G457C	DMXL1_ENST00000539542.1_Missense_Mutation_p.G457C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	457								p.G457C(2)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAAGGAATTAGGCTGTGATAA	0.343000													32	94					2.46105e-21	4.23967e-21	0.750413	1	0
PPFIA2	8499	broad.mit.edu	37	12	81676789	81676789	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:81676789C>A	ENST00000550584.2	-	25	3313	c.3018_splice	c.e25+1	p.Q1006_splice	PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000549325.1_Splice_Site_p.Q991_splice|PPFIA2_ENST00000443686.3_Splice_Site_p.Q907_splice|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000552948.1_Splice_Site_p.Q985_splice|PPFIA2_ENST00000549396.1_Splice_Site_p.Q1006_splice|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Splice_Site_p.Q1006_splice|PPFIA2_ENST00000407050.4_Splice_Site_p.Q911_splice|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Splice_Site_p.Q853_splice|PPFIA2_ENST00000333447.7_Splice_Site_p.Q991_splice	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	910								p.Q1006H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AATCTCCTACCTGGGCCCAGC	0.318000													8	17					1.58986e-06	1.7869e-06	0.361761	1	0
B3GALT1	8708	broad.mit.edu	37	2	168726315	168726315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:168726315C>A	ENST00000305861.1	+	2	1117	c.766C>A	c.(766-768)Ctc>Atc	p.L256I	AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.L256I|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	256					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.L256I(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAAGACCTCACTCCACACAAG	0.488000													46	84					9.84934e-19	1.61899e-18	0.853193	1	0
CHST9	83539	broad.mit.edu	37	18	24604116	24604116	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:24604116C>T	ENST00000284224.8	-	4	443	c.166G>A	c.(166-168)Gga>Aga	p.G56R	CHST9_ENST00000580774.1_Missense_Mutation_p.G56R|CHST9_ENST00000581714.1_Missense_Mutation_p.G56R|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	56					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.G56R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTCACTGGTCCCCATCCTGAA	0.378000													7	40					0	0	0.278610	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145401	25145401	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:25145401G>A	ENST00000332271.5	-	11	1720	c.1304C>T	c.(1303-1305)aCa>aTa	p.T435I	PIWIL3_ENST00000533313.1_Missense_Mutation_p.T326I|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.T326I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	435					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.T435I(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCTTTTAATGTATGATGCCT	0.363000													21	86					0	0	0.608945	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885793	180885793	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:180885793C>T	ENST00000367588.4	+	2	609	c.554C>T	c.(553-555)cCg>cTg	p.P185L		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	185								p.P185L(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGGGGGAGCCCGTGGCCTCCA	0.642000													46	148					0	0	0.870114	0	0
SSPO	23145	broad.mit.edu	37	7	149486458	149486458	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:149486458G>T	ENST00000378016.2	+	0	4434							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGACTGTCTGGATGCCGCCG	0.687000													6	30					5.18039e-06	5.77306e-06	0.278610	1	0
WDR70	55100	broad.mit.edu	37	5	37703180	37703180	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:37703180C>G	ENST00000265107.4	+	13	1563	c.1407C>G	c.(1405-1407)atC>atG	p.I469M		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	469								p.I469M(2)		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)			AAATAGACATCACAGATGCGG	0.393000													16	126					0	0	0.500413	0	0
PSKH2	85481	broad.mit.edu	37	8	87076322	87076322	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:87076322C>A	ENST00000276616.2	-	2	798	c.724G>T	c.(724-726)Gca>Tca	p.A242S	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	242	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.A242S(2)		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)			ATGTCCACTGCACTGGTATAA	0.463000													25	71					1.42536e-11	1.90935e-11	0.681144	1	0
AKAP13	11214	broad.mit.edu	37	15	86266326	86266326	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:86266326C>A	ENST00000394518.2	+	26	6615	c.6520C>A	c.(6520-6522)Cta>Ata	p.L2174I	AKAP13_ENST00000361243.2_Missense_Mutation_p.L2178I|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.L419I	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2174	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.L2178I(2)|p.L254I(2)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCAGGAAGATCTAGCACAGTC	0.418000													19	48					2.94398e-08	3.46687e-08	0.557998	1	0
CORIN	10699	broad.mit.edu	37	4	47685848	47685848	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:47685848G>A	ENST00000273857.4	-	7	920	c.921C>T	c.(919-921)agC>agT	p.S307S	CORIN_ENST00000505909.1_Silent_p.S307S|CORIN_ENST00000508498.1_Silent_p.S168S|CORIN_ENST00000502252.1_Silent_p.S240S|CORIN_ENST00000504584.1_Silent_p.S307S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	307	LDL-receptor class A 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.S307S(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACAGATTCTCGCTGCAGTCTG	0.428000													14	57					0	0	0.435327	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28209990	28209990	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:28209990G>A	ENST00000284984.2	-	9	3266	c.2812C>T	c.(2812-2814)Cat>Tat	p.H938Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	938	TSP type-1 3.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.H938Y(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCTCCATCATGGGACAGACAC	0.458000													34	129					0	0	0.760397	0	0
MROH2B	133558	broad.mit.edu	37	5	40999785	40999785	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:40999785G>C	ENST00000399564.4	-	40	5029	c.4579C>G	c.(4579-4581)Ctc>Gtc	p.L1527V	MROH2B_ENST00000506092.2_Missense_Mutation_p.L1082V	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L1527V(2)									TCACCTGTGAGTTTGACAGCT	0.483000													25	73					0	0	0.667858	0	0
IGHG1	3500	broad.mit.edu	37	14	106203999	106203999	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:106203999G>T	ENST00000390548.2	-	0	1299																											GGTTGAGGGCGGTGAGGTCGG	0.682000													3	9					0.115264	0.116445	0.115264	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227219083	227219083	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:227219083T>G	ENST00000366769.3	-	27	4877	c.3586A>C	c.(3586-3588)Aga>Cga	p.R1196R	CDC42BPA_ENST00000366766.2_Silent_p.R1231R|CDC42BPA_ENST00000535525.1_Silent_p.R1176R|CDC42BPA_ENST00000334218.5_Silent_p.R1196R|CDC42BPA_ENST00000366765.3_Silent_p.R1209R|CDC42BPA_ENST00000366767.3_Silent_p.R1115R|CDC42BPA_ENST00000366764.2_Silent_p.R1168R	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1209	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R1231R(2)|p.R1115R(2)|p.R1196R(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGCGGTCTCTGAATTTGTTT	0.418000													147	234					0	0	0.870114	0	0
KCNK16	83795	broad.mit.edu	37	6	39290313	39290313	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:39290313G>T	ENST00000425054.2	-	1	3	c.4C>A	c.(4-6)Ccc>Acc	p.P2T	KCNK16_ENST00000373227.4_Missense_Mutation_p.P2T|KCNK16_ENST00000373229.5_Missense_Mutation_p.P2T|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000437525.2_Missense_Mutation_p.P2T	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	2						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.P2T(2)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCAGCACTGGGCATGCTGTGG	0.667000													4	8					0.00909568	0.00934439	0.150653	1	0
EPHB6	2051	broad.mit.edu	37	7	142566456	142566456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:142566456G>T	ENST00000392957.2	+	15	3032	c.2245G>T	c.(2245-2247)Gag>Tag	p.E749*	EPHB6_ENST00000442129.1_Nonsense_Mutation_p.E749*|EPHB6_ENST00000411471.2_Nonsense_Mutation_p.E472*	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	749	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.E734*(2)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGTGCTGACGGAGTTCATGGA	0.647000													23	76					1.85244e-09	2.27306e-09	0.654019	1	0
TRO	7216	broad.mit.edu	37	X	54955191	54955191	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:54955191G>T	ENST00000173898.7	+	12	2146	c.2034G>T	c.(2032-2034)tgG>tgT	p.W678C	TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.W209C|TRO_ENST00000375041.2_Missense_Mutation_p.W281C	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	678					embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.W678C(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ctgggccctggaattgggATG	0.552000													7	15					0.27861	0.279674	0.278610	1	0
CASC1	55259	broad.mit.edu	37	12	25261485	25261485	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:25261485G>T	ENST00000395990.2	-	17	2285	c.2028C>A	c.(2026-2028)tcC>tcA	p.S676S	CASC1_ENST00000320267.9_Silent_p.S716S|CASC1_ENST00000354189.5_3'UTR|CASC1_ENST00000545133.1_Silent_p.S657S|CASC1_ENST00000537577.1_3'UTR|CASC1_ENST00000395987.3_Silent_p.S722S	NM_001204102.1	NP_001191031.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	716								p.S722S(2)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTGGAGGTTAGGAGTAGCTGA	0.418000													12	25					4.36969e-10	5.47252e-10	0.435327	1	0
UGT2B4	7363	broad.mit.edu	37	4	70346378	70346378	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:70346378T>C	ENST00000305107.6	-	6	1607	c.1561A>G	c.(1561-1563)Aca>Gca	p.T521A	UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.T385A	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	521					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.T521A(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTCTTTCCTGTTCTAACAAAC	0.418000													53	164					0	0	0.870114	0	0
TRAK1	22906	broad.mit.edu	37	3	42166916	42166916	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:42166916G>T	ENST00000327628.5	+	2	496	c.96G>T	c.(94-96)gtG>gtT	p.V32V	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	32					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		p.V32V(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTTTAGATGTGTGCAACAGCA	0.488000													18	35					0.00074312	0.000788067	0.539581	1	0
PDE3A	5139	broad.mit.edu	37	12	20801732	20801732	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:20801732G>T	ENST00000359062.3	+	13	2716	c.2676G>T	c.(2674-2676)gtG>gtT	p.V892V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	892	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E893*(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTGACCATGTGGAATTTAAGC	0.398000													35	103					7.11191e-15	1.06476e-14	0.769981	1	0
NCOA3	8202	broad.mit.edu	37	20	46268485	46268485	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:46268485A>G	ENST00000372004.3	+	15	3088	c.2872A>G	c.(2872-2874)Att>Gtt	p.I958V	NCOA3_ENST00000341724.6_Missense_Mutation_p.I888V|NCOA3_ENST00000371998.3_Missense_Mutation_p.I958V|NCOA3_ENST00000371997.3_Missense_Mutation_p.I953V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	958					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.I958V(2)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGTGGCTCTATTCCCACATT	0.493000													78	179					0	0	0.870114	0	0
FBN2	2201	broad.mit.edu	37	5	127727745	127727745	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:127727745C>A	ENST00000508053.1	-	17	2543	c.1569G>T	c.(1567-1569)atG>atT	p.M523I	FBN2_ENST00000508989.1_Missense_Mutation_p.M490I|FBN2_ENST00000262464.4_Missense_Mutation_p.M523I			P35556	FBN2_HUMAN	fibrillin 2	523	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.M523I(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTTATAACCCATGTTGCATT	0.348000													22	50					3.5997e-14	5.28894e-14	0.624587	1	0
SETX	23064	broad.mit.edu	37	9	135206746	135206746	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:135206746C>T	ENST00000372169.2	-	8	1110	c.928G>A	c.(928-930)Gat>Aat	p.D310N	SETX_ENST00000224140.5_Missense_Mutation_p.D310N|SETX_ENST00000393220.1_Missense_Mutation_p.D310N			Q7Z333	SETX_HUMAN	senataxin	310					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.D310N(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACAATAGGATCCATAAGTTGA	0.423000													15	63					0	0	0.457914	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982276	61982276	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:61982276T>C	ENST00000370263.4	-	5	708	c.487A>G	c.(487-489)Atc>Gtc	p.I163V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	163					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.I163V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GTGACGTCGATGCTGCAGGAG	0.597000													27	136					0	0	0.681144	0	0
RLF	6018	broad.mit.edu	37	1	40705942	40705942	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:40705942C>T	ENST00000372771.4	+	8	5595	c.5568C>T	c.(5566-5568)tcC>tcT	p.S1856S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1856					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S1856S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAGTTCCTTCCTTGGAAAACC	0.423000													38	116					0	0	0.812448	0	0
FER1L6	654463	broad.mit.edu	37	8	125109517	125109517	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:125109517C>T	ENST00000522917.1	+	36	4907	c.4701C>T	c.(4699-4701)cgC>cgT	p.R1567R	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.R1567R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1567						integral to membrane		p.R1567R(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAAGGGCCGCCTGCAGATGT	0.468000													92	146					0	0	0.870114	0	0
CNTN5	53942	broad.mit.edu	37	11	99945012	99945012	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:99945012T>C	ENST00000524871.1	+	13	1856	c.1566T>C	c.(1564-1566)gtT>gtC	p.V522V	CNTN5_ENST00000279463.3_Silent_p.V522V|CNTN5_ENST00000418526.2_Silent_p.V448V|CNTN5_ENST00000527185.1_Silent_p.V522V|CNTN5_ENST00000528682.1_Silent_p.V522V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	522	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V522V(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGAGCAGTTAGAGAAAACA	0.363000													4	16					0	0	0.184627	0	0
NEB	4703	broad.mit.edu	37	2	152566225	152566225	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:152566225T>A	ENST00000397345.3	-	12	1182	c.980A>T	c.(979-981)cAg>cTg	p.Q327L	NEB_ENST00000603639.1_Missense_Mutation_p.Q327L|NEB_ENST00000427231.2_Missense_Mutation_p.Q327L|NEB_ENST00000604864.1_Missense_Mutation_p.Q327L|NEB_ENST00000172853.10_Missense_Mutation_p.Q327L|NEB_ENST00000409198.1_Missense_Mutation_p.Q327L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	327					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.Q327L(4)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTTTCGGTCTGCATGAAGTA	0.398000													4	16					0	0	0.150653	0	0
CAPS2	84698	broad.mit.edu	37	12	75678809	75678809	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:75678809C>A	ENST00000393284.3	-	15	1409	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	CAPS2_ENST00000442339.2_Missense_Mutation_p.D92Y|CAPS2_ENST00000409799.1_Missense_Mutation_p.D420Y|CAPS2_ENST00000409445.3_Missense_Mutation_p.D502Y|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	502							calcium ion binding	p.D270Y(2)|p.D502Y(2)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TCTCCATAATCAACCTTGCCA	0.323000													34	38					2.68265e-12	3.733e-12	0.769981	1	0
ATRNL1	26033	broad.mit.edu	37	10	116930936	116930936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:116930936G>A	ENST00000527407.1	+	7	1434	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	ATRNL1_ENST00000355044.3_Missense_Mutation_p.E412K|ATRNL1_ENST00000529665.1_3'UTR			Q5VV63	ATRN1_HUMAN	attractin-like 1	0						integral to membrane	sugar binding	p.E412K(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTATGCTGTGGAGGGACATTC	0.373000													48	104					0	0	0.870114	0	0
CKAP4	10970	broad.mit.edu	37	12	106633401	106633401	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:106633401G>C	ENST00000378026.4	-	2	1346	c.1210C>G	c.(1210-1212)Caa>Gaa	p.Q404E		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	404						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.Q404E(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TGACTCTTTTGCTGGAGTGCC	0.632000													53	83					0	0	0.870114	0	0
PCLO	27445	broad.mit.edu	37	7	82581394	82581394	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:82581394C>A	ENST00000423517.2	-	5	9212	c.8875G>T	c.(8875-8877)Gca>Tca	p.A2959S	PCLO_ENST00000333891.8_Missense_Mutation_p.A2959S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2890					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A2959S(4)|p.A2890S(2)		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						AGAGTAGTTGCAGGCTGCTGT	0.463000													42	163					7.53189e-24	1.33543e-23	0.834066	1	0
FCGBP	8857	broad.mit.edu	37	19	40411754	40411754	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:40411754C>G	ENST00000221347.6	-	7	3881	c.3874G>C	c.(3874-3876)Gcc>Ccc	p.A1292P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1292	VWFD 3.					extracellular region	protein binding	p.A1292P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCAGGACGGCAAACCGATGC	0.637000													38	77					0	0	0.870114	0	0
CHST2	9435	broad.mit.edu	37	3	142841221	142841221	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:142841221C>A	ENST00000309575.3	+	2	2947	c.1563C>A	c.(1561-1563)agC>agA	p.S521R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	521					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.S521R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AAGACCTCAGCAAGACCCTGC	0.527000													13	37					2.61681e-11	3.44111e-11	0.457914	1	0
OR8K5	219453	broad.mit.edu	37	11	55927268	55927268	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55927268G>T	ENST00000313447.1	-	1	525	c.526C>A	c.(526-528)Cat>Aat	p.H176N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H176N(2)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CAGTAAAAATGACTGATGACA	0.358000													27	98					4.87955e-14	7.1428e-14	0.693898	1	0
MMAA	166785	broad.mit.edu	37	4	146576326	146576326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:146576326G>T	ENST00000281317.5	+	7	2207	c.997G>T	c.(997-999)Gag>Tag	p.E333*	MMAA_ENST00000541599.1_Nonsense_Mutation_p.E52*	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	333						mitochondrion	GTP binding|nucleoside-triphosphatase activity	p.E333*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGAAGTGGAGAGGGGATCTC	0.423000													28	107					4.87955e-14	7.1428e-14	0.693898	1	0
CTNND2	1501	broad.mit.edu	37	5	11022998	11022998	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:11022998G>T	ENST00000304623.8	-	17	3071	c.2882C>A	c.(2881-2883)aCa>aAa	p.T961K	CTNND2_ENST00000458100.2_Missense_Mutation_p.T528K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.T870K|CTNND2_ENST00000359640.2_Missense_Mutation_p.T903K|CTNND2_ENST00000503622.1_Missense_Mutation_p.T624K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	961					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.T961K(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAGACAGCTGTCACTGTGTC	0.547000													28	96					8.24728e-16	1.25863e-15	0.681144	1	0
KCNT2	343450	broad.mit.edu	37	1	196197364	196197364	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:196197364G>T	ENST00000367433.5	-	27	3427	c.3326C>A	c.(3325-3327)aCt>aAt	p.T1109N	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.T1133N|KCNT2_ENST00000367431.4_Missense_Mutation_p.T1067N|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1133						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.T1133N(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCAAAGTTGAGTTTCCTCCCG	0.398000													10	49					1.76689e-08	2.09952e-08	0.335167	1	0
SLC22A7	10864	broad.mit.edu	37	6	43269342	43269342	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:43269342G>T	ENST00000372585.5	+	7	1068	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	SLC22A7_ENST00000372589.3_Missense_Mutation_p.G323W|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G323W|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	325						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.G325W(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGTGGCCGCCGGGGAACGGGT	0.587000													13	48					4.14922e-12	5.71332e-12	0.500413	1	0
CIZ1	25792	broad.mit.edu	37	9	130941545	130941545	+	Missense_Mutation	SNP	C	C	G	rs111464781		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:130941545C>G	ENST00000538431.1	-	8	1188	c.941G>C	c.(940-942)cGg>cCg	p.R314P	CIZ1_ENST00000541172.1_Missense_Mutation_p.R213P|CIZ1_ENST00000372948.3_Missense_Mutation_p.R314P|CIZ1_ENST00000372954.1_Missense_Mutation_p.R290P|CIZ1_ENST00000372938.5_Missense_Mutation_p.R314P|CIZ1_ENST00000393608.1_Missense_Mutation_p.R314P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Missense_Mutation_p.R285P|CIZ1_ENST00000357558.5_Missense_Mutation_p.R314P|CIZ1_ENST00000277465.4_Missense_Mutation_p.R314P	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	314	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding	p.R314P(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCAGGACCCGTGGCTGGAA	0.632000													33	86					0	0	0.819951	0	0
JKAMP	51528	broad.mit.edu	37	14	59970757	59970757	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:59970757A>T	ENST00000554271.1	+	7	1471	c.945A>T	c.(943-945)tcA>tcT	p.S315S	JKAMP_ENST00000425728.2_Silent_p.S295S|JKAMP_ENST00000356057.5_Silent_p.S309S|JKAMP_ENST00000261247.9_Silent_p.S301S|RP11-701B16.2_ENST00000554253.1_RNA			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	316					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	p.S311S(2)|p.S309S(2)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CCGAACCTTCAAGGATACTCT	0.398000													7	55					0	0	0.248553	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1969334	1969334	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:1969334C>G	ENST00000382722.5	-	19	2279	c.1917G>C	c.(1915-1917)acG>acC	p.T639T	CACNA2D4_ENST00000586184.1_Silent_p.T639T|CACNA2D4_ENST00000588077.1_Silent_p.T575T|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000587995.1_Silent_p.T614T|CACNA2D4_ENST00000585732.1_Silent_p.T500T|CACNA2D4_ENST00000585708.1_Silent_p.T575T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	639						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.T639T(4)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CGCTGATGTCCGTGAAGAAGT	0.502000													9	14					0	0	0.411799	0	0
MUC13	56667	broad.mit.edu	37	3	124646418	124646418	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:124646418C>A	ENST00000311075.3	-	2	510	c.472G>T	c.(472-474)Ggc>Tgc	p.G158C		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	158	Thr-rich.					extracellular region|integral to membrane|plasma membrane		p.G158C(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AAAGCGGTGCCAGTGGGAGGC	0.473000													65	219					1.84395e-34	3.66468e-34	0.870114	1	0
TRAV8-6	28680	broad.mit.edu	37	14	22447104	22447104	+	RNA	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:22447104C>T	ENST00000390443.3	+	0	305																											GCTTGACAGCCAAGTCCCTGT	0.468000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	200					0	0	0.870114	0	0
PJA1	64219	broad.mit.edu	37	X	68381607	68381607	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:68381607T>A	ENST00000361478.1	-	2	1852	c.1475A>T	c.(1474-1476)gAt>gTt	p.D492V	PJA1_ENST00000374571.4_Missense_Mutation_p.D437V|PJA1_ENST00000374583.1_Missense_Mutation_p.D492V|PJA1_ENST00000374584.3_Missense_Mutation_p.D304V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	492							zinc ion binding	p.D492V(2)|p.D304V(2)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GTTGTTTCCATCCAGCATGAA	0.478000													50	78					0	0	0.870114	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499667	18499667	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:18499667G>T	ENST00000433979.1	+	11	1638	c.1522G>T	c.(1522-1524)Gta>Tta	p.V508L	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.V508L|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.V508L|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.V508L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	508					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	p.V508L(4)		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)				TTTTCAGCCTGTAAATGTACC	0.438000													29	74					1.80694e-10	2.31441e-10	0.740014	1	0
MAGEF1	64110	broad.mit.edu	37	3	184429233	184429233	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:184429233C>A	ENST00000317897.3	-	1	603	c.377G>T	c.(376-378)cGg>cTg	p.R126L		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	126	MAGE.							p.R126L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			AAAGACATACCGCAGATGCTC	0.488000													35	158					6.53348e-20	1.09679e-19	0.788014	1	0
TRPM6	140803	broad.mit.edu	37	9	77378052	77378052	+	Splice_Site	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:77378052T>C	ENST00000451710.3	-	26	3774		c.e26-2		TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000360774.1_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.?(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCTGTAACCCTAGTGGTGAAG	0.458000													9	44					0	0	0.307466	0	0
OR4D5	219875	broad.mit.edu	37	11	123811224	123811224	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123811224C>T	ENST00000307033.2	+	1	975	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L301L(2)|p.L301M(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATGAAGAAGCTGTGGAGGAG	0.493000													31	150					0	0	0.750413	0	0
RBM45	129831	broad.mit.edu	37	2	178977516	178977516	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:178977516G>T	ENST00000286070.5	+	1	335	c.243G>T	c.(241-243)agG>agT	p.R81S		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	81	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	p.R81S(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AGGCCTGCAGGGCCATGGAGG	0.652000													25	77					1.77063e-15	2.6763e-15	0.693898	1	0
TRPM6	140803	broad.mit.edu	37	9	77423091	77423091	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:77423091C>A	ENST00000451710.3	-	14	1735		c.e14-1		TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000360774.1_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000376872.3_Splice_Site			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.?(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAAGGGTATGCTGCAACAAAA	0.358000													21	78					1.50039e-11	1.99968e-11	0.608945	1	0
DTX1	1840	broad.mit.edu	37	12	113515246	113515246	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:113515246C>A	ENST00000257600.3	+	2	780	c.277C>A	c.(277-279)Cgg>Agg	p.R93R		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	93	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.R93R(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCGGCCCGTGCGGCGCAACTT	0.682000													24	37					4.26978e-12	5.85888e-12	0.654019	1	0
PREX1	57580	broad.mit.edu	37	20	47364417	47364417	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:47364417C>A	ENST00000396220.1	-	2	242	c.219_splice	c.e2-1	p.A74_splice	PREX1_ENST00000371941.3_Splice_Site_p.A74_splice			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	74	DH.				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	p.A74S(4)|p.A74T(2)		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)			TGCAGGAATGCCTGGAGGAGA	0.592000													7	22					8.12818e-05	8.73724e-05	0.248553	1	0
MXRA5	25878	broad.mit.edu	37	X	3228247	3228247	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:3228247T>A	ENST00000217939.6	-	7	8151	c.7997A>T	c.(7996-7998)cAg>cTg	p.Q2666L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2666	Ig-like C2-type 11.					extracellular region		p.Q2666L(4)		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)				GAAACGTCCCTGCCCAGCCCC	0.592000													28	72					0	0	0.706142	0	0
EGR2	1959	broad.mit.edu	37	10	64575716	64575716	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:64575716A>G	ENST00000242480.3	-	1	399	c.74T>C	c.(73-75)aTc>aCc	p.I25T	EGR2_ENST00000493899.2_5'UTR|EGR2_ENST00000439032.1_Missense_Mutation_p.I25T|EGR2_ENST00000411732.1_5'UTR	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	25					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.I25T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CACCGGGTAGATGTTGTCAGA	0.572000													74	140					0	0	0.870114	0	0
ZXDC	79364	broad.mit.edu	37	3	126180702	126180702	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:126180702C>A	ENST00000389709.3	-	6	1856	c.1803G>T	c.(1801-1803)gtG>gtT	p.V601V	ZXDC_ENST00000336332.5_Silent_p.V601V	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	601	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V601V(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCACAGTCTGCACGTCATCCA	0.567000													54	157					3.31993e-32	6.54855e-32	0.870114	1	0
GBE1	2632	broad.mit.edu	37	3	81586172	81586172	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:81586172G>A	ENST00000429644.2	-	13	2336	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	GBE1_ENST00000489715.1_Missense_Mutation_p.R524W	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	565					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.R565W(4)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TGAAACTGCCGCCTGGCATAA	0.383000									Glycogen Storage Disease, type IV				14	33					0	0	0.435327	0	0
SLIT3	6586	broad.mit.edu	37	5	168096927	168096927	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:168096927C>A	ENST00000519560.1	-	35	4616	c.4197G>T	c.(4195-4197)ggG>ggT	p.G1399G	SLIT3_ENST00000332966.8_Silent_p.G1406G|SLIT3_ENST00000404867.3_Silent_p.G1399G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1399	EGF-like 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.G1399G(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACACAAGTCCCCTCCATAGC	0.552000													18	40					6.94344e-10	8.64097e-10	0.539581	1	0
TMEM2	23670	broad.mit.edu	37	9	74327059	74327059	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:74327059C>A	ENST00000377044.4	-	16	3248	c.2709G>T	c.(2707-2709)atG>atT	p.M903I	TMEM2_ENST00000377066.5_Missense_Mutation_p.M840I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	903						integral to membrane		p.M903I(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAATTCTTCATGAGGAAGC	0.428000													23	109					5.26018e-13	7.51862e-13	0.608945	1	0
PPFIA4	8497	broad.mit.edu	37	1	203024729	203024729	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:203024729G>T	ENST00000367240.2	+	15	2463	c.1936G>T	c.(1936-1938)Ggc>Tgc	p.G646C	PPFIA4_ENST00000414050.2_Missense_Mutation_p.G374C|PPFIA4_ENST00000295706.4_Missense_Mutation_p.G161C|PPFIA4_ENST00000272198.6_Missense_Mutation_p.G161C|PPFIA4_ENST00000599966.1_Missense_Mutation_p.G161C|PPFIA4_ENST00000447715.2_Missense_Mutation_p.G645C			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	161					cell communication	cell surface|cytoplasm	protein binding	p.G161C(2)|p.G792C(2)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACCACTCAGCGGCCGCTCCAC	0.662000													12	55					3.32936e-07	3.80154e-07	0.539581	1	0
DST	667	broad.mit.edu	37	6	56472157	56472157	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:56472157G>A	ENST00000370754.5	-	39	7169	c.7170C>T	c.(7168-7170)aaC>aaT	p.N2390N	DST_ENST00000370769.4_Silent_p.N2212N|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Silent_p.N1886N|DST_ENST00000361203.3_Silent_p.N2212N|DST_ENST00000312431.6_Silent_p.N2212N|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2212					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)			GTGAATCCCTGTTTGTATTAT	0.343000													25	59					0	0	0.654019	0	0
SLC12A3	6559	broad.mit.edu	37	16	56901119	56901119	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:56901119G>A	ENST00000438926.2	+	2	449	c.420G>A	c.(418-420)aaG>aaA	p.K140K	SLC12A3_ENST00000262502.5_Silent_p.K139K|SLC12A3_ENST00000563236.1_Silent_p.K140K|SLC12A3_ENST00000566786.1_Silent_p.K139K	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	140					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.K140K(2)		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)	GCTGGGTCAAGGGGGTGATGG	0.662000													6	32					0	0	0.217242	0	0
IGLV1-40	28825	broad.mit.edu	37	22	22764308	22764308	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:22764308C>A	ENST00000390299.2	+	0	101																											CTTCCAGGGTCCTGGGCCCAG	0.617000											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	68	124					1.17253e-29	2.2564e-29	0.870114	1	0
CSPP1	79848	broad.mit.edu	37	8	68030483	68030483	+	Splice_Site	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:68030483G>C	ENST00000262210.5	+	12	1513	c.1481_splice	c.e12-1	p.R494_splice	CSPP1_ENST00000412460.1_Splice_Site_p.R200_splice	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	529	Pro-rich.					centrosome|microtubule|spindle		p.R494S(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTTCATACAGGATTGCACCTC	0.353000													52	129					0	0	0.870114	0	0
ZPBP	11055	broad.mit.edu	37	7	50121455	50121455	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:50121455C>A	ENST00000046087.2	-	3	318	c.249G>T	c.(247-249)gtG>gtT	p.V83V	ZPBP_ENST00000419417.1_Silent_p.V83V	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	83					binding of sperm to zona pellucida	extracellular region		p.V83V(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTACACATAACACGTGTGGAC	0.353000													20	52					2.4624e-09	3.00748e-09	0.575678	1	0
URGCP	55665	broad.mit.edu	37	7	43918478	43918478	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:43918478T>A	ENST00000336086.6	-	4	2691	c.455A>T	c.(454-456)gAc>gTc	p.D152V	URGCP_ENST00000223341.7_Missense_Mutation_p.D152V|URGCP_ENST00000443736.1_Missense_Mutation_p.D152V|URGCP_ENST00000402306.3_Missense_Mutation_p.D186V|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000453200.1_Missense_Mutation_p.D195V|URGCP_ENST00000447717.3_Missense_Mutation_p.D152V			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	195					cell cycle	centrosome|nucleus	GTP binding	p.D152V(2)|p.D195V(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGAAACTGTCTGAGGAGAG	0.517000													24	54					0	0	0.667858	0	0
BCAN	63827	broad.mit.edu	37	1	156618448	156618448	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:156618448C>G	ENST00000329117.4	+	6	1194	c.858C>G	c.(856-858)acC>acG	p.T286T	BCAN_ENST00000361588.5_Silent_p.T286T|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	286	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.T286T(4)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGATTGCCACCACGGGCCAAC	0.627000													100	198					0	0	0.870114	0	0
LPIN3	64900	broad.mit.edu	37	20	39985681	39985681	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:39985681G>T	ENST00000373257.3	+	15	1896	c.1803_splice	c.e15-1	p.R602_splice		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	602	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	p.R602L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGGCCTCAGCGGCGCCTGAAC	0.612000													14	62					0.000422831	0.00045083	0.500413	1	0
CACNA1E	777	broad.mit.edu	37	1	181546938	181546938	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:181546938C>A	ENST00000526775.1	+	4	714	c.549C>A	c.(547-549)caC>caA	p.H183Q	CACNA1E_ENST00000367567.4_De_novo_Start_InFrame|CACNA1E_ENST00000367573.2_Missense_Mutation_p.H183Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.H134Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.H134Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.H183Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.H183Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	183					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.H183Q(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAATACTCACGTGGACCTGA	0.552000													12	28					7.03913e-09	8.53129e-09	0.411799	1	0
CD163L1	283316	broad.mit.edu	37	12	7559189	7559189	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:7559189T>C	ENST00000313599.3	-	5	1083	c.1026A>G	c.(1024-1026)agA>agG	p.R342R	CD163L1_ENST00000416109.2_Silent_p.R352R|CD163L1_ENST00000396630.1_Silent_p.R342R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	342	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R342R(2)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCCGGAATGTCTGCAGTCCC	0.433000													23	93					0	0	0.608945	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332285	100332285	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:100332285C>A	ENST00000341853.1	-	0	1906					NR_003260.1																						TGGGGAGACCCACCGGGCCAT	0.662000													20	38					1.40151e-16	2.18105e-16	0.592651	1	0
UTRN	7402	broad.mit.edu	37	6	144854358	144854358	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:144854358G>T	ENST00000367545.3	+	42	6195	c.6195G>T	c.(6193-6195)tgG>tgT	p.W2065C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2065					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.W2065C(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCAACGCTGGGATGCAATTG	0.438000													24	100					1.30988e-24	2.35958e-24	0.750413	1	0
HJURP	55355	broad.mit.edu	37	2	234750372	234750372	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:234750372C>A	ENST00000411486.2	-	8	1119	c.1054G>T	c.(1054-1056)Ggt>Tgt	p.G352C	HJURP_ENST00000432087.1_Missense_Mutation_p.G298C|HJURP_ENST00000441687.1_Missense_Mutation_p.G267C	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	352					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.G352F(2)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AATTTTAAACCTGTCTTACGG	0.438000													9	78					0.000274275	0.000292832	0.307466	1	0
GLRB	2743	broad.mit.edu	37	4	158058029	158058029	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:158058029C>A	ENST00000264428.4	+	6	871	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.L201M|GLRB_ENST00000509282.1_Missense_Mutation_p.L201M	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	201					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.L201M(2)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CAAGATGCAACTGGAGAGCTG	0.363000													32	65					2.70662e-09	3.30065e-09	0.740014	1	0
PPP1CA	5499	broad.mit.edu	37	11	67168577	67168577	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:67168577G>T	ENST00000376745.4	-	2	297	c.149C>A	c.(148-150)cCc>cAc	p.P50H	PPP1CA_ENST00000358239.4_Intron|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000312989.7_Missense_Mutation_p.P61H	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	50					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	p.P147H(2)|p.P50H(1)|p.P61H(1)		breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CAGAAGAATGGGCTGGCTCAG	0.612000													26	68					2.48779e-11	3.28239e-11	0.693898	1	0
U2SURP	23350	broad.mit.edu	37	3	142747463	142747463	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:142747463A>T	ENST00000397933.2	+	15	1640	c.358A>T	c.(358-360)Agt>Tgt	p.S120C	U2SURP_ENST00000493598.2_Missense_Mutation_p.S528C|U2SURP_ENST00000473835.2_Missense_Mutation_p.S529C			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	529					RNA processing	nucleus	nucleotide binding|RNA binding	p.S529C(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGAGGAACCTAGTAAAAAGGG	0.333000													24	55					0	0	0.639603	0	0
FLG	2312	broad.mit.edu	37	1	152282083	152282083	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:152282083C>G	ENST00000368799.1	-	3	5314	c.5279G>C	c.(5278-5280)gGa>gCa	p.G1760A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1760	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1760A(2)		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)			CCCTGAACGTCCAGACCTTTC	0.597000									Ichthyosis				222	395					0	0	0.870114	0	0
CDH9	1007	broad.mit.edu	37	5	26915967	26915967	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:26915967G>A	ENST00000231021.4	-	3	466	c.294C>T	c.(292-294)ggC>ggT	p.G98G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	98	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G98G(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAAATAGACTGCCAGCCCCAT	0.368000													48	155					0	0	0.870114	0	0
DNAJC11	55735	broad.mit.edu	37	1	6706000	6706000	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:6706000C>T	ENST00000377577.5	-	8	866	c.743G>A	c.(742-744)cGt>cAt	p.R248H	DNAJC11_ENST00000349363.6_Missense_Mutation_p.R210H|DNAJC11_ENST00000294401.7_Missense_Mutation_p.R248H|DNAJC11_ENST00000377573.5_Missense_Mutation_p.R158H|DNAJC11_ENST00000542246.1_Missense_Mutation_p.R210H	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	248					protein folding		heat shock protein binding|unfolded protein binding	p.R248H(2)|p.R278H(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGATTCCACGGGATGAAAA	0.537000													66	204					0	0	0.870114	0	0
TENM4	26011	broad.mit.edu	37	11	78369779	78369779	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:78369779G>A	ENST00000278550.7	-	34	8096	c.7634C>T	c.(7633-7635)tCc>tTc	p.S2545F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.S2545F(4)									GGTGATTGTGGAGCCATAGAG	0.537000													37	84					0	0	0.804634	0	0
HECW1	23072	broad.mit.edu	37	7	43447307	43447307	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:43447307G>T	ENST00000395891.1	+	8	1383	c.778G>T	c.(778-780)Gtg>Ttg	p.V260L	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.V260L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	260	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.V239L(2)|p.V260L(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGCAACACCGTGAACCCCAT	0.547000													14	82					0.00244969	0.00254317	0.457914	1	0
ZNF423	23090	broad.mit.edu	37	16	49559353	49559353	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:49559353C>A	ENST00000561648.1	-	6	3683	c.3630G>T	c.(3628-3630)ccG>ccT	p.P1210P	ZNF423_ENST00000562520.1_Silent_p.P1150P|ZNF423_ENST00000562871.1_Silent_p.P1150P|ZNF423_ENST00000563137.2_Silent_p.P1150P|ZNF423_ENST00000535559.1_Silent_p.P1093P|ZNF423_ENST00000567169.1_Silent_p.P1093P|ZNF423_ENST00000262383.2_Silent_p.P1210P	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1210					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P1210P(6)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGAGCTTGGCCGGGGAGTCGA	0.572000													33	145					8.53417e-09	1.02801e-08	0.769981	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103128358	103128358	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:103128358C>T	ENST00000375735.2	+	69	10627	c.10483C>T	c.(10483-10485)Ctg>Ttg	p.L3495L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L3502L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3495					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	p.L935L(2)		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)		CTATCTCCCCCTGGCTGAGAG	0.423000													12	68					0	0	0.435327	0	0
KCTD14	65987	broad.mit.edu	37	11	77727720	77727720	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:77727720G>A	ENST00000353172.5	-	2	731	c.687C>T	c.(685-687)ttC>ttT	p.F229F	KCTD14_ENST00000533144.1_Silent_p.F199F	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	229						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F229F(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AGAACTTGGAGAATACCTTGT	0.493000													30	114					0	0	0.729181	0	0
HERPUD2	64224	broad.mit.edu	37	7	35709856	35709856	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:35709856C>T	ENST00000396081.1	-	3	1112	c.308G>A	c.(307-309)aGt>aAt	p.S103N	HERPUD2_ENST00000311350.3_Missense_Mutation_p.S103N	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	103	Ser-rich.				response to unfolded protein	integral to membrane		p.S103N(2)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGCTTCATGACTTTCTCTATT	0.378000													6	91					0	0	0.248553	0	0
KLHL22	84861	broad.mit.edu	37	22	20812279	20812279	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:20812279G>A	ENST00000328879.4	-	5	1277	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	KLHL22_ENST00000440659.2_Missense_Mutation_p.P231L	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	374					cell division	Cul3-RING ubiquitin ligase complex		p.P374L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTTGTGCCGTGGGTCATACCT	0.597000													17	29					0	0	0.520397	0	0
ZNF679	168417	broad.mit.edu	37	7	63726618	63726618	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:63726618C>A	ENST00000421025.1	+	5	876	c.607C>A	c.(607-609)Cag>Aag	p.Q203K	ZNF679_ENST00000255746.4_Missense_Mutation_p.Q203K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q203K(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ACATCAACATCAGATAATTCA	0.338000													8	10					0.0381472	0.0385874	0.278610	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													8	79					0	0	0.335167	0	0
SLC2A9	56606	broad.mit.edu	37	4	10027563	10027563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:10027563C>A	ENST00000506583.1	-	3	245	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	SLC2A9_ENST00000309065.3_Nonsense_Mutation_p.E10*			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.E10*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						TCTTCATCTTCTCCTCGGTCC	0.393000													25	82					2.65835e-16	4.10457e-16	0.717897	1	0
C2orf57	165100	broad.mit.edu	37	2	232457748	232457748	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:232457748C>G	ENST00000313965.2	+	1	174	c.86C>G	c.(85-87)cCa>cGa	p.P29R		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	29								p.P29R(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGTCAGGTCCCACTCACAGCA	0.607000													27	137					0	0	0.706142	0	0
ANKRD55	79722	broad.mit.edu	37	5	55406997	55406997	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:55406997G>T	ENST00000341048.4	-	10	1729	c.1578C>A	c.(1576-1578)caC>caA	p.H526Q	ANKRD55_ENST00000504958.2_Missense_Mutation_p.H483Q|ANKRD55_ENST00000434982.2_Missense_Mutation_p.H238Q	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	525								p.H526Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGACCTCTTGGTGACCAGGCC	0.463000													67	222					1.64915e-30	3.21279e-30	0.870114	1	0
AMER3	205147	broad.mit.edu	37	2	131520903	131520903	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:131520903G>T	ENST00000423981.1	+	2	1368	c.1258G>T	c.(1258-1260)Gac>Tac	p.D420Y	AMER3_ENST00000321420.4_Missense_Mutation_p.D420Y	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									p.D420Y(2)									CTACAGTGGGGACGCCCTCTA	0.622000													18	66					2.21704e-12	3.096e-12	0.639603	1	0
MAGEC3	139081	broad.mit.edu	37	X	140969330	140969330	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:140969330G>T	ENST00000298296.1	+	4	657	c.657G>T	c.(655-657)acG>acT	p.T219T	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	219	MAGE 1.							p.T219T(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACACATACACGGGCTACTTTC	0.438000													44	177					1.23103e-26	2.27466e-26	0.864702	1	0
SVEP1	79987	broad.mit.edu	37	9	113221313	113221313	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:113221313C>A	ENST00000401783.2	-	19	3739	c.3403G>T	c.(3403-3405)Gca>Tca	p.A1135S	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.A1112S|SVEP1_ENST00000302728.8_Missense_Mutation_p.A1135S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1135					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.A1135S(2)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCTTCCCTGCATTAGGTTGG	0.463000													35	230					2.20262e-25	4.03218e-25	0.769981	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803686	185803686	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:185803686C>A	ENST00000302277.6	+	4	4157	c.3563C>A	c.(3562-3564)cCc>cAc	p.P1188H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1188						intracellular	zinc ion binding	p.P1188H(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCATCTTTACCCCATGCACTC	0.473000													37	288					2.47316e-13	3.57385e-13	0.779181	1	0
KIRREL	55243	broad.mit.edu	37	1	158063219	158063219	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:158063219A>T	ENST00000368172.1	+	8	1016	c.1004A>T	c.(1003-1005)tAc>tTc	p.Y335F	KIRREL_ENST00000368173.3_Missense_Mutation_p.Y537F|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y418F|KIRREL_ENST00000360089.4_Missense_Mutation_p.Y357F|KIRREL_ENST00000416935.2_Missense_Mutation_p.Y421F|KIRREL_ENST00000359209.6_Missense_Mutation_p.Y521F			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	521	Ig-like C2-type 4.					integral to membrane		p.Y521F(2)|p.Y357F(2)|p.Y537F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TTCTTCCTCTACCGGCGCCGC	0.602000													112	153					0	0	0.870114	0	0
ESM1	11082	broad.mit.edu	37	5	54281167	54281167	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:54281167C>A	ENST00000381405.4	-	1	324	c.179G>T	c.(178-180)gGg>gTg	p.G60V	ESM1_ENST00000381403.4_Missense_Mutation_p.G60V|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	60	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	p.G60V(2)		breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCTCCCCGCCCTGCAGCGCA	0.602000													23	70					1.96895e-08	2.32909e-08	0.639603	1	0
POU4F2	5458	broad.mit.edu	37	4	147561705	147561705	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:147561705G>T	ENST00000281321.3	+	2	1223	c.975G>T	c.(973-975)gaG>gaT	p.E325D		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	325	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.E325D(2)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GGCTCGAGGAGGCCGAGAAGT	0.592000													28	84					4.34311e-12	5.94915e-12	0.779181	1	0
LEPR	3953	broad.mit.edu	37	1	66083707	66083707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:66083707G>A	ENST00000349533.6	+	16	2458	c.2273G>A	c.(2272-2274)tGg>tAg	p.W758*	LEPR_ENST00000344610.8_Nonsense_Mutation_p.W758*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.W758*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.W758*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.W758*|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	758	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.W758*(6)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTGTTTCCTGGATACTATCA	0.313000													11	90					0	0	0.387290	0	0
CDH26	60437	broad.mit.edu	37	20	58567503	58567503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:58567503G>T	ENST00000348616.4	+	10	1654	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	CDH26_ENST00000244047.5_Nonsense_Mutation_p.E452*	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	452	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E452*(4)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CATCACCGTGGAGCCAATTGA	0.413000													14	72					4.14922e-12	5.71332e-12	0.500413	1	0
PRSS54	221191	broad.mit.edu	37	16	58314662	58314662	+	Splice_Site	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:58314662C>T	ENST00000219301.4	-	7	1049		c.e7-1		CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000543437.1_Splice_Site|CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000567164.1_Splice_Site	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54						proteolysis	extracellular region	serine-type endopeptidase activity	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGGGTCCCCCTGTGATAAAA	0.453000													30	48					0	0	0.740014	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076887	49076887	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:49076887C>A	ENST00000344532.3	-	11	1513	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S	RCBTB2_ENST00000544904.1_3'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.A369S|RCBTB2_ENST00000544492.1_Missense_Mutation_p.A90S	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	364							Ran guanyl-nucleotide exchange factor activity	p.A364S(2)		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)		CACGTGACGGCGGGCGTGGCA	0.592000													35	53					2.42023e-17	3.84218e-17	0.779181	1	0
MED12L	116931	broad.mit.edu	37	3	151134112	151134112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:151134112C>T	ENST00000474524.1	+	41	6243	c.6205C>T	c.(6205-6207)Cag>Tag	p.Q2069*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2069	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2069*(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			Gcagcagccccagcagcccca	0.527000													22	41					0	0	0.624587	0	0
ADCY8	114	broad.mit.edu	37	8	131964130	131964130	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:131964130G>C	ENST00000286355.5	-	3	3317	c.1225C>G	c.(1225-1227)Cgc>Ggc	p.R409G	ADCY8_ENST00000377928.3_Missense_Mutation_p.R409G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	409					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.R409G(2)		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)			TTCTCATAGCGATGGATGTAG	0.517000										HNSCC(32;0.087)			32	84					0	0	0.750413	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261202	21261202	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:21261202T>A	ENST00000311620.5	+	2	388	c.315T>A	c.(313-315)gcT>gcA	p.A105A		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	105								p.A105A(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGGATGCTGCTGCCAGCAGGG	0.542000													26	71					0	0	0.706142	0	0
LOC440040	440040	broad.mit.edu	37	11	49597803	49597803	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:49597803C>A	ENST00000527477.1	+	0	407																											CTAAAACGGTCCTTCTGTTGA	0.493000													8	55					0.00307968	0.0031888	0.278610	1	0
ST3GAL6	10402	broad.mit.edu	37	3	98503797	98503797	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:98503797G>T	ENST00000394162.1	+	7	811	c.344G>T	c.(343-345)tGt>tTt	p.C115F	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.C115F|ST3GAL6_ENST00000265261.6_Intron	NM_006100.2	NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	115					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	p.C115F(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AGCATACCCTGTAAAAAGTGT	0.368000													30	83					9.78306e-22	1.68902e-21	0.740014	1	0
TRIML2	205860	broad.mit.edu	37	4	189020209	189020209	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:189020209C>A	ENST00000512729.1	-	4	825	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	TRIML2_ENST00000326754.3_Missense_Mutation_p.G151C|TRIML2_ENST00000536972.1_Missense_Mutation_p.G201C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	151							ligase activity	p.G151C(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCAAGGTGCCTTCCCCACAC	0.458000													27	94					7.92952e-12	1.07314e-11	0.667858	1	0
SNX13	23161	broad.mit.edu	37	7	17836453	17836453	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:17836453G>A	ENST00000409389.1	-	25	2828	c.2656C>T	c.(2656-2658)Cca>Tca	p.P886S	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.P875S			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	886					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CACTCACCTGGCATAATTGCA	0.353000													4	117					0	0	0.150653	0	0
ZAN	7455	broad.mit.edu	37	7	100373327	100373327	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:100373327C>A	ENST00000542585.1	+	0	6209				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.Q2021K(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGCCATCTCCCAGATCCCTGG	0.532000													8	76					7.48243e-07	8.44583e-07	0.335167	1	0
OR14I1	401994	broad.mit.edu	37	1	248845065	248845065	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:248845065G>A	ENST00000342623.3	-	1	564	c.541C>T	c.(541-543)Cat>Tat	p.H181Y		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H181Y(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GCCAACACATGAGGGATGTCA	0.502000													7	98					0	0	0.248553	0	0
ABCB9	23457	broad.mit.edu	37	12	123434340	123434340	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:123434340C>A	ENST00000542678.1	-	4	3680	c.842G>T	c.(841-843)cGc>cTc	p.R281L	ABCB9_ENST00000344275.7_Missense_Mutation_p.R281L|ABCB9_ENST00000280560.8_Missense_Mutation_p.R281L|ABCB9_ENST00000346530.5_Missense_Mutation_p.R281L|ABCB9_ENST00000540285.1_Missense_Mutation_p.R281L|ABCB9_ENST00000392439.3_Missense_Mutation_p.R281L|ABCB9_ENST00000442833.2_Missense_Mutation_p.R281L|ABCB9_ENST00000442028.2_Missense_Mutation_p.R281L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	281	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	p.R281L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCAACCTGTGCGGTTCTCATC	0.567000													53	78					2.13883e-14	3.16018e-14	0.870114	1	0
ADC	113451	broad.mit.edu	37	1	33562427	33562427	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:33562427C>T	ENST00000294517.6	+	9	1460	c.873C>T	c.(871-873)atC>atT	p.I291I	ADC_ENST00000398167.1_Silent_p.I291I|ADC_ENST00000358680.3_Silent_p.I133I|ADC_ENST00000373441.1_Silent_p.I291I|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373440.1_Silent_p.I133I|ADC_ENST00000373443.3_Silent_p.I291I	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	291					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	p.I291I(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CAGTCAGCATCATTGCCAAGA	0.592000													36	136					0	0	0.804634	0	0
SLC44A5	204962	broad.mit.edu	37	1	75672394	75672394	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:75672394C>A	ENST00000370855.5	-	24	2171	c.2058G>T	c.(2056-2058)ctG>ctT	p.L686L	SLC44A5_ENST00000535611.1_Silent_p.L556L|SLC44A5_ENST00000370859.3_Intron	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	686						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.L686L(2)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CATTTCTTTCCAGATCTTCAC	0.413000													47	154					1.47857e-17	2.3808e-17	0.870114	1	0
LTBP2	4053	broad.mit.edu	37	14	74969481	74969481	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:74969481G>T	ENST00000261978.4	-	34	5431	c.5045C>A	c.(5044-5046)cCc>cAc	p.P1682H	LTBP2_ENST00000556690.1_Missense_Mutation_p.P1638H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1682					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P1682H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGTGTCCTCGGGGCCCAGGTA	0.632000													35	140					1.45844e-13	2.11527e-13	0.769981	1	0
AP3B2	8120	broad.mit.edu	37	15	83349376	83349376	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:83349376G>T	ENST00000261722.3	-	8	1110	c.903C>A	c.(901-903)gaC>gaA	p.D301E	AP3B2_ENST00000535348.1_Missense_Mutation_p.D269E|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.D301E	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	301					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.D301E(1)		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)			GCAGCCGGTGGTCGGGGTCCA	0.706000													6	18					0.00198382	0.00206495	0.248553	1	0
FGFRL1	53834	broad.mit.edu	37	4	1018108	1018108	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:1018108G>T	ENST00000398484.2	+	7	1308	c.728G>T	c.(727-729)cGt>cTt	p.R243L	FGFRL1_ENST00000264748.6_Missense_Mutation_p.R243L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R243L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R243L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	243					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.R213L(2)|p.R243L(2)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAGCGGACCCGTTCCAAGCCC	0.711000													19	71					2.94398e-08	3.46687e-08	0.557998	1	0
ASTN1	460	broad.mit.edu	37	1	176927497	176927497	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:176927497C>G	ENST00000367654.2	-	10	1757	c.1744G>C	c.(1744-1746)Gat>Cat	p.D582H	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D574H|ASTN1_ENST00000361833.2_Missense_Mutation_p.D574H|ASTN1_ENST00000367657.3_Missense_Mutation_p.D574H			O14525	ASTN1_HUMAN	astrotactin 1	582					cell migration|neuron cell-cell adhesion	integral to membrane		p.D574H(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCACAGCATCCTCCATCACA	0.532000													34	86					0	0	0.788014	0	0
OR8D4	338662	broad.mit.edu	37	11	123777159	123777159	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123777159C>T	ENST00000321355.2	+	1	51	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S7S(2)		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)		AAAACCATTCCACAGTGACTG	0.388000													27	94					0	0	0.681144	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141256	143141256	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:143141256C>G	ENST00000332690.1	+	1	711	c.711C>G	c.(709-711)ccC>ccG	p.P237P	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	237					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.P237P(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCCGAGAGCCCAGTGTGCAGG	0.483000													53	158					0	0	0.870114	0	0
OR14I1	401994	broad.mit.edu	37	1	248844970	248844970	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:248844970C>A	ENST00000342623.3	-	1	659	c.636G>T	c.(634-636)atG>atT	p.M212I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M212I(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGAGATCATCATGAGAATAA	0.493000													49	95					4.10826e-27	7.68109e-27	0.870114	1	0
UNC13A	23025	broad.mit.edu	37	19	17720837	17720837	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:17720837C>A	ENST00000428389.2	-	44	4986	c.4987G>T	c.(4987-4989)Ggg>Tgg	p.G1663W	UNC13A_ENST00000552293.1_Missense_Mutation_p.G1569W|UNC13A_ENST00000551649.1_Missense_Mutation_p.G1594W|UNC13A_ENST00000550896.1_Missense_Mutation_p.G1548W|UNC13A_ENST00000519716.2_Missense_Mutation_p.G1575W|UNC13A_ENST00000252773.7_Missense_Mutation_p.G1575W			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1575					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGCTGGGGCCCAATGATGTTG	0.522000													4	170					0.150653	0.151614	0.150653	1	0
FAM218A	152756	broad.mit.edu	37	4	165878351	165878351	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:165878351G>T	ENST00000513876.2	+	1	252	c.177G>T	c.(175-177)ttG>ttT	p.L59F	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN	family with sequence similarity 218, member A	59								p.L59F(2)									GTGTCTCTTTGCTCAGACATC	0.612000													5	24					5.4927e-09	6.6673e-09	0.307466	1	0
PLCG1	5335	broad.mit.edu	37	20	39801184	39801184	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:39801184G>T	ENST00000373272.2	+	26	3434	c.3029G>T	c.(3028-3030)cGc>cTc	p.R1010L	PLCG1_ENST00000244007.3_Missense_Mutation_p.R1010L|PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.R1010L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1010	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	p.R1010L(2)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAGCTCTCCCGCATCTACCCC	0.542000													6	47					0.00116845	0.0012292	0.217242	1	0
LRP1B	53353	broad.mit.edu	37	2	140995750	140995750	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:140995750C>A	ENST00000389484.3	-	89	14502	c.13531G>T	c.(13531-13533)Gat>Tat	p.D4511Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4511					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D4511Y(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCCAGGATCTAAAAGACCT	0.373000										TSP Lung(27;0.18)			30	95					6.38683e-12	8.71836e-12	0.729181	1	0
MUC16	94025	broad.mit.edu	37	19	9020128	9020128	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:9020128A>T	ENST00000397910.4	-	21	37570	c.37367T>A	c.(37366-37368)gTg>gAg	p.V12456E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12458	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V12456E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGCATCCACTCCAGTGGC	0.517000													48	92					0	0	0.870114	0	0
PTPN13	5783	broad.mit.edu	37	4	87701591	87701591	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:87701591T>G	ENST00000436978.1	+	36	6423	c.5943T>G	c.(5941-5943)tcT>tcG	p.S1981S	PTPN13_ENST00000427191.2_Silent_p.S1957S|PTPN13_ENST00000411767.2_Silent_p.S1976S|PTPN13_ENST00000511467.1_Silent_p.S1981S|PTPN13_ENST00000316707.6_Silent_p.S1785S	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1976						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.S1981S(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAAAGAGGTCTGCTGTTTCAG	0.423000													4	25					0	0	0.184627	0	0
SATB2	23314	broad.mit.edu	37	2	200298195	200298195	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:200298195C>A	ENST00000417098.1	-	3	1028	c.212G>T	c.(211-213)gGc>gTc	p.G71V	SATB2_ENST00000457245.1_Missense_Mutation_p.G71V|SATB2_ENST00000428695.1_Missense_Mutation_p.G71V|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000260926.5_Missense_Mutation_p.G71V	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	71						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.G71V(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCAAGAGAGCCGTCCAACTG	0.473000													36	120					4.65686e-17	7.31925e-17	0.788014	1	0
OR5T3	390154	broad.mit.edu	37	11	56020456	56020456	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:56020456G>C	ENST00000303059.3	+	1	781	c.781G>C	c.(781-783)Gct>Cct	p.A261P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A261P(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GATGCATTCTGCTAAGGGAAG	0.408000													76	252					0	0	0.870114	0	0
CENPK	64105	broad.mit.edu	37	5	64824289	64824289	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:64824289T>C	ENST00000396679.1	-	9	801	c.587A>G	c.(586-588)aAa>aGa	p.K196R	CENPK_ENST00000514814.1_Missense_Mutation_p.K196R|CENPK_ENST00000510693.1_Missense_Mutation_p.K133R|CENPK_ENST00000508421.1_Missense_Mutation_p.K166R|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Missense_Mutation_p.K196R	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	196					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		p.K196R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		CTTTTTCTTTTTAACACTTCT	0.284000													12	33					0	0	0.457914	0	0
FHOD3	80206	broad.mit.edu	37	18	34349242	34349242	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:34349242T>A	ENST00000257209.4	+	24	4212	c.4090T>A	c.(4090-4092)Tgg>Agg	p.W1364R	FHOD3_ENST00000359247.4_Missense_Mutation_p.W1347R|FHOD3_ENST00000591635.1_Missense_Mutation_p.W560R|FHOD3_ENST00000592128.1_Missense_Mutation_p.W343R|FHOD3_ENST00000445677.1_Missense_Mutation_p.W1326R|FHOD3_ENST00000590592.1_Missense_Mutation_p.W1547R	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1347	DAD.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.W1364R(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTAGTTCCTGGACTATGGG	0.473000													36	59					0	0	0.819951	0	0
ITGAM	3684	broad.mit.edu	37	16	31309152	31309152	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:31309152G>T	ENST00000544665.3	+	14	1658	c.1587G>T	c.(1585-1587)ggG>ggT	p.G529G	ITGAM_ENST00000287497.8_Silent_p.G528G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	528					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.G528G(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAGTGCTGGGGGACGTAAATG	0.607000													32	118					1.61788e-16	2.50295e-16	0.760397	1	0
HHIPL1	84439	broad.mit.edu	37	14	100118631	100118631	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:100118631G>T	ENST00000330710.5	+	2	424	c.326G>T	c.(325-327)gGg>gTg	p.G109V	HHIPL1_ENST00000357223.2_Missense_Mutation_p.G109V	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	109					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	p.G109V(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACGGTGCCCGGGCTCTGCCAG	0.612000													31	81					3.80469e-20	6.40065e-20	0.740014	1	0
DGKG	1608	broad.mit.edu	37	3	185986600	185986600	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:185986600C>G	ENST00000265022.3	-	12	1645	c.1106G>C	c.(1105-1107)tGc>tCc	p.C369S	DGKG_ENST00000344484.4_Missense_Mutation_p.C369S|DGKG_ENST00000382164.4_Intron|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	369					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.C369S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGTCATCCGGCACCACACGCA	0.607000													14	44					0	0	0.479597	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329238	88329238	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:88329238G>T	ENST00000325089.6	+	2	1814	c.1595G>T	c.(1594-1596)aGg>aTg	p.R532M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R291M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	532						integral to membrane		p.R532M(2)		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)					ACCCTCCTCAGGCTAAACCTG	0.527000													48	74					6.21074e-16	9.49666e-16	0.859065	1	0
SLC16A7	9194	broad.mit.edu	37	12	60098636	60098636	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:60098636G>C	ENST00000261187.4	+	2	218	c.54G>C	c.(52-54)tgG>tgC	p.W18C	SLC16A7_ENST00000552024.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000547379.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000549465.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000552432.1_Missense_Mutation_p.W18C	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	18						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.W18C(2)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATGGAGGATGGGGTTGGATTG	0.433000													27	43					0	0	0.681144	0	0
SYNE2	23224	broad.mit.edu	37	14	64483301	64483301	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:64483301G>T	ENST00000358025.3	+	33	5069	c.4839G>T	c.(4837-4839)gaG>gaT	p.E1613D	SYNE2_ENST00000554584.1_Missense_Mutation_p.E1613D|SYNE2_ENST00000344113.4_Missense_Mutation_p.E1613D|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1613					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E1613D(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTTTGAAGAGCCCCCTTTTG	0.284000													8	25					5.18039e-06	5.77306e-06	0.278610	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768509	31768509	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:31768509C>T	ENST00000355459.2	+	1	118	c.105C>T	c.(103-105)gtC>gtT	p.V35V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	35						intermediate filament		p.V35V(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAACCAGGTCTACAGCACTG	0.602000													42	133					0	0	0.847076	0	0
LPPR4	9890	broad.mit.edu	37	1	99772348	99772348	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:99772348A>T	ENST00000370185.3	+	7	2571	c.2074A>T	c.(2074-2076)Agc>Tgc	p.S692C	LPPR4_ENST00000457765.1_Missense_Mutation_p.S634C|LPPR4_ENST00000370184.1_Missense_Mutation_p.S534C	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		692							phosphatidate phosphatase activity	p.S692C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAACATTGATAGCAATGAGCA	0.507000													13	51					0	0	0.457914	0	0
CD1D	912	broad.mit.edu	37	1	158151904	158151904	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:158151904A>T	ENST00000368171.3	+	4	910	c.411A>T	c.(409-411)caA>caT	p.Q137H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	137					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.Q137H(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TAGCATTTCAAGGAAAAGATA	0.512000													160	504					0	0	0.870114	0	0
CDH8	1006	broad.mit.edu	37	16	61851501	61851501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:61851501C>A	ENST00000577390.1	-	7	2113	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*	CDH8_ENST00000577730.1_Nonsense_Mutation_p.E387*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.E387*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.E387*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	387	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E387Q(2)|p.E387*(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACCGGAGGCTCATCAGCATCT	0.498000													47	102					5.7616e-29	1.0954e-28	0.870114	1	0
INSL4	3641	broad.mit.edu	37	9	5231684	5231684	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:5231684C>T	ENST00000239316.4	+	1	266	c.161C>T	c.(160-162)cCa>cTa	p.P54L		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	54					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	p.P54L(2)		endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		ACCACCACCCCAGGAGGGTGG	0.527000													39	44					0	0	0.834066	0	0
TTN	7273	broad.mit.edu	37	2	179427841	179427841	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:179427841G>A	ENST00000589042.1	-	326	83242	c.83018C>T	c.(83017-83019)cCa>cTa	p.P27673L	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18733L|TTN_ENST00000342992.6_Missense_Mutation_p.P25105L|TTN_ENST00000342175.6_Missense_Mutation_p.P18800L|TTN_ENST00000460472.2_Missense_Mutation_p.P18608L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P26032L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26032	Fibronectin type-III 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P18800L(2)|p.P25105L(2)|p.P18733L(2)|p.P25103L(2)|p.P18608L(2)		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)			TTCTATTTCTGGTGGCTCTAT	0.463000													72	224					0	0	0.870114	0	0
CAMTA1	23261	broad.mit.edu	37	1	7805036	7805036	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:7805036A>G	ENST00000303635.7	+	17	4531	c.4324A>G	c.(4324-4326)Agt>Ggt	p.S1442G	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1442G|CAMTA1_ENST00000476864.1_Missense_Mutation_p.S6G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S1442G(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGGCTGGCCAGTTATCTAGC	0.517000			T	WWTR1	epitheliod hemangioendothelioma								24	103					0	0	0.681144	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631817	122631817	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:122631817G>T	ENST00000195173.4	-	18	2898	c.2595C>A	c.(2593-2595)tcC>tcA	p.S865S	SEMA5B_ENST00000451055.2_Silent_p.S920S|SEMA5B_ENST00000357599.3_Silent_p.S866S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	866	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.S920S(3)|p.S866S(3)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGCAGTCCCGGGAGCAGGACG	0.741000													7	33					0.00307968	0.0031888	0.278610	1	0
OBSCN	84033	broad.mit.edu	37	1	228509335	228509335	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:228509335G>C	ENST00000570156.2	+	66	17738	c.17664G>C	c.(17662-17664)tgG>tgC	p.W5888C	OBSCN_ENST00000366707.4_Missense_Mutation_p.W2565C|OBSCN_ENST00000284548.11_Missense_Mutation_p.W4931C|OBSCN_ENST00000366709.4_Missense_Mutation_p.W2050C|OBSCN_ENST00000422127.1_Missense_Mutation_p.W4931C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4931					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.W5513C(2)|p.W4931C(2)|p.W5643C(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCCCGCTGGCTGAAGGATG	0.637000													19	56					0	0	0.539581	0	0
PASD1	139135	broad.mit.edu	37	X	150840994	150840994	+	Missense_Mutation	SNP	G	G	T	rs147522572	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:150840994G>T	ENST00000370357.4	+	14	2022	c.1777G>T	c.(1777-1779)Gta>Tta	p.V593L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	593						nucleus	signal transducer activity	p.V593L(4)		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)					CCCACGTGACGTATCTGTGCC	0.527000													58	83					1.61742e-36	3.26379e-36	0.870114	1	0
FGB	2244	broad.mit.edu	37	4	155487128	155487128	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:155487128T>A	ENST00000302068.4	+	2	346	c.283T>A	c.(283-285)Tgt>Agt	p.C95S	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	95			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.C95S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGCTGGAGGCTGTCTTCACGC	0.552000													21	49					0	0	0.624587	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513999	1513999	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:1513999G>T	ENST00000421627.2	+	3	1275	c.1141G>T	c.(1141-1143)Gca>Tca	p.A381S	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	460					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.A425S(1)|p.A403S(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCAAAGTCGGCAATCCTACC	0.557000													9	13					1.76689e-08	2.09952e-08	0.335167	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745991	77745991	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:77745991C>A	ENST00000409088.3	-	3	1418	c.1004G>T	c.(1003-1005)aGc>aTc	p.S335I	LRRTM4_ENST00000409093.1_Missense_Mutation_p.S335I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S336I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S336I|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S335I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	335	LRRCT.					integral to membrane		p.S335I(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TATCATGGTGCTTTCCTTATT	0.393000													5	26					1.23904e-05	1.36156e-05	0.184627	1	0
GPC4	2239	broad.mit.edu	37	X	132439938	132439938	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:132439938C>A	ENST00000370828.3	-	6	1541	c.1017G>T	c.(1015-1017)caG>caT	p.Q339H	GPC4_ENST00000535467.1_Missense_Mutation_p.Q269H	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	339					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Q339H(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTCCACATCCCTGGAAAACCT	0.582000													154	262					1.27947e-65	2.71372e-65	0.870114	1	0
ZFAND2B	130617	broad.mit.edu	37	2	220073185	220073185	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:220073185G>A	ENST00000409097.1	+	7	622	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V189M|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V189M|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V189M|ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.V189M			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	189						endoplasmic reticulum	protein binding|zinc ion binding	p.V189M(2)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCCTCCAGTGATTGCTTT	0.542000													21	151					0	0	0.624587	0	0
MFAP4	4239	broad.mit.edu	37	17	19288711	19288711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:19288711G>T	ENST00000395592.2	-	4	440	c.369C>A	c.(367-369)taC>taA	p.Y123*	MFAP4_ENST00000497081.2_Nonsense_Mutation_p.Y124*|MFAP4_ENST00000299610.4_Nonsense_Mutation_p.Y99*	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	99	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding	p.Y123*(2)|p.Y99*(2)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCCCAGCTTGTAGTCATTCC	0.572000													19	38					1.96292e-10	2.50606e-10	0.592651	1	0
SALL4	57167	broad.mit.edu	37	20	50407691	50407691	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:50407691T>A	ENST00000217086.4	-	2	1442	c.1331A>T	c.(1330-1332)gAg>gTg	p.E444V	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	444					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E444V(2)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCTGGAACTCGGCAAACAG	0.552000													47	77					0	0	0.870114	0	0
ASTN1	460	broad.mit.edu	37	1	176998824	176998824	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:176998824C>G	ENST00000367654.2	-	5	1079	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D356H|ASTN1_ENST00000361833.2_Missense_Mutation_p.D356H|ASTN1_ENST00000367657.3_Missense_Mutation_p.D356H			O14525	ASTN1_HUMAN	astrotactin 1	356					cell migration|neuron cell-cell adhesion	integral to membrane		p.D356H(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCTGGGGGTCGTTTTCTGCC	0.507000													21	70					0	0	0.608945	0	0
C9orf64	84267	broad.mit.edu	37	9	86559805	86559805	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:86559805T>A	ENST00000376344.3	-	3	913	c.697A>T	c.(697-699)Agt>Tgt	p.S233C	C9orf64_ENST00000314700.1_Missense_Mutation_p.S92C	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	233								p.S233C(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATGGTGATACTGGAGATGTCC	0.428000													9	86					0	0	0.307466	0	0
OR51B2	79345	broad.mit.edu	37	11	5345155	5345155	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:5345155G>T	ENST00000328813.2	-	1	427	c.373C>A	c.(373-375)Cgc>Agc	p.R125S	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R125S(2)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGATTGCGGATGGCAATG	0.453000													34	55					8.4185e-14	1.2255e-13	0.760397	1	0
OR13H1	347468	broad.mit.edu	37	X	130678094	130678094	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:130678094G>T	ENST00000338616.3	+	1	145	c.47G>T	c.(46-48)gGc>gTc	p.G16V		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(2)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CTCCTTATTGGCATTTCTAAC	0.383000													27	122					1.77063e-15	2.6763e-15	0.693898	1	0
FSTL1	11167	broad.mit.edu	37	3	120129820	120129820	+	Missense_Mutation	SNP	C	C	T	rs149509930		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:120129820C>T	ENST00000295633.3	-	5	666	c.310G>A	c.(310-312)Gta>Ata	p.V104I	FSTL1_ENST00000424703.2_Missense_Mutation_p.V69I	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	104					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	p.V104I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GATGGACTTACGGATTTCTTC	0.393000													5	122					0	0	0.184627	0	0
MARCH1	55016	broad.mit.edu	37	4	164466875	164466875	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:164466875G>T	ENST00000503008.1	-	7	1420	c.444C>A	c.(442-444)acC>acA	p.T148T	MARCH1_ENST00000274056.7_Silent_p.T148T|MARCH1_ENST00000514618.1_Silent_p.T404T|MARCH1_ENST00000339875.5_Silent_p.T131T	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	148					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T148T(2)|p.T131T(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTCACTTGTGGTCATCTGTA	0.423000													33	89					3.99451e-17	6.30333e-17	0.740014	1	0
OLFML1	283298	broad.mit.edu	37	11	7531356	7531356	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:7531356C>A	ENST00000329293.3	+	3	1540	c.1146C>A	c.(1144-1146)gcC>gcA	p.A382A	OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Silent_p.A382A|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	382	Olfactomedin-like.					extracellular region		p.A382A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGCTCTATGCCTGGAATGAAG	0.463000													23	46					7.41877e-09	8.95099e-09	0.608945	1	0
GJA1	2697	broad.mit.edu	37	6	121768935	121768935	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:121768935T>G	ENST00000282561.3	+	2	1099	c.942T>G	c.(940-942)agT>agG	p.S314R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	314					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.S314R(2)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTAATTACAGTGCAGAACAAA	0.458000													38	105					0	0	0.840704	0	0
HCFC1	3054	broad.mit.edu	37	X	153227748	153227748	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:153227748G>A	ENST00000310441.7	-	5	1688	c.722C>T	c.(721-723)aCg>aTg	p.T241M	HCFC1_ENST00000354233.3_Missense_Mutation_p.T241M|HCFC1_ENST00000369984.4_Missense_Mutation_p.T241M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	241					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.T142M(2)|p.T241M(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTATTCCACGTCAGGGTGTC	0.567000													14	27					0	0	0.457914	0	0
DOK2	9046	broad.mit.edu	37	8	21768283	21768283	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:21768283C>G	ENST00000276420.4	-	4	777	c.519G>C	c.(517-519)cgG>cgC	p.R173R	DOK2_ENST00000544659.1_Silent_p.R19R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	173	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.R173R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCTCCCCAGCCCGGAGGGTAT	0.642000													9	22					0	0	0.307466	0	0
NAA11	84779	broad.mit.edu	37	4	80246771	80246771	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:80246771G>T	ENST00000286794.4	-	1	433	c.261C>A	c.(259-261)gcC>gcA	p.A87A		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	87	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.A87A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCAGCTTCTGGGCCAGGCCGA	0.577000													30	102					7.26314e-15	1.08534e-14	0.717897	1	0
CYP11B2	1585	broad.mit.edu	37	8	143994002	143994002	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:143994002G>T	ENST00000323110.2	-	8	1344	c.1342C>A	c.(1342-1344)Cgc>Agc	p.R448S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	448					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.R448S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGGCACTGGCGCATGCCAAAG	0.682000									Familial Hyperaldosteronism type I				27	166					9.78306e-22	1.68902e-21	0.740014	1	0
SEMA5A	9037	broad.mit.edu	37	5	9063152	9063152	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:9063152C>A	ENST00000382496.5	-	18	3030	c.2365G>T	c.(2365-2367)Gcc>Tcc	p.A789S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	789	TSP type-1 5.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.A789S(2)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GACGTCCAGGCTGACCAAGCC	0.582000													17	60					3.45872e-05	3.77968e-05	0.500413	1	0
PRDM14	63978	broad.mit.edu	37	8	70981552	70981552	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:70981552G>T	ENST00000276594.2	-	2	745	c.544C>A	c.(544-546)Ccc>Acc	p.P182T		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P182T(2)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GAGGGTTTGGGACCATCCTCT	0.577000													33	68					1.30897e-18	2.14715e-18	0.740014	1	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217055	53217055	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:53217055G>T	ENST00000342657.3	+	7	1501	c.428G>T	c.(427-429)gGc>gTc	p.G143V	HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.G143V|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.G143V	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	143	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	p.G143V(2)		cervix(1)|large_intestine(1)|lung(5)	7						CGAGGCAGTGGCAAGAAAAGG	0.408000													17	57					1.99824e-07	2.30836e-07	0.520397	1	0
SERPINB2	5055	broad.mit.edu	37	18	61570386	61570386	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:61570386G>T	ENST00000457692.1	+	9	1428	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	SERPINB2_ENST00000299502.4_Missense_Mutation_p.E365D	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	365					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.E365D(2)		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)	TGAATGAGGAGGGCACTGAAG	0.502000													18	65					7.45023e-12	1.01174e-11	0.592651	1	0
SALL1	6299	broad.mit.edu	37	16	51173730	51173730	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:51173730G>T	ENST00000440970.1	-	2	2543	c.2112C>A	c.(2110-2112)agC>agA	p.S704R	SALL1_ENST00000251020.4_Missense_Mutation_p.S801R|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	801					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S801R(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACTCAGAGTAGCTGTCGGGGA	0.512000													88	99					2.98122e-55	5.42982e-55	1	1	0
PIK3R3	8503	broad.mit.edu	37	1	46521524	46521524	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:46521524A>G	ENST00000262741.5	-	7	1573	c.884T>C	c.(883-885)aTg>aCg	p.M295T	PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000372006.1_Missense_Mutation_p.M295T|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000420542.1_Missense_Mutation_p.M295T|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M341T|PIK3R3_ENST00000488808.1_5'UTR	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	295					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	p.M295T(2)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GATGCTATTCATTTTTTTATC	0.428000													29	210					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44067349	44067349	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:44067349G>T	ENST00000344290.5	+	8	1610	c.1288G>T	c.(1288-1290)Gct>Tct	p.A430S	MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A430S|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.A430S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.A430S|MAPT_ENST00000347967.5_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	430					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	p.A430S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTCCAGCCCTGCTGTGTGCCC	0.522000													52	160					8.44121e-28	1.27225e-27	1	1	0
MFSD4	148808	broad.mit.edu	37	1	205538353	205538353	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:205538353G>C	ENST00000367147.4	+	1	249	c.156G>C	c.(154-156)caG>caC	p.Q52H	MFSD4_ENST00000539267.1_Missense_Mutation_p.Q52H|MFSD4_ENST00000536357.1_Missense_Mutation_p.Q52H	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	52					transmembrane transport	integral to membrane		p.Q52H(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CGCTGCCCCAGATCTCCTGGG	0.672000													2	1					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67190582	67190582	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:67190582C>A	ENST00000269081.4	-	13	2198	c.1289G>T	c.(1288-1290)gGa>gTa	p.G430V	ABCA10_ENST00000416101.2_Missense_Mutation_p.G430V	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	430	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.G430V(2)		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)					TTTACCAGCTCCATTATGCCC	0.333000													23	135					1.62565e-12	1.9854e-12	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75899098	75899098	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:75899098C>A	ENST00000322507.8	-	7	968		c.e7-1		COL12A1_ENST00000483888.2_Splice_Site|COL12A1_ENST00000416123.2_Splice_Site|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.?(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGGCATCCCCTAAAGGGAAA	0.328000													11	54					0.000151284	0.000161399	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38758175	38758175	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:38758175A>G	ENST00000359357.3	+	18	2378	c.2124A>G	c.(2122-2124)ttA>ttG	p.L708L	DNAH8_ENST00000441566.1_Silent_p.L708L|DNAH8_ENST00000449981.2_Silent_p.L925L					dynein, axonemal, heavy chain 8									p.L708L(4)		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						ATCAACTTTTAAAGAAGGTAT	0.313000													54	58					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81388081	81388081	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:81388081C>A	ENST00000222390.5	-	3	520	c.294G>T	c.(292-294)tgG>tgT	p.W98C	HGF_ENST00000453411.1_Missense_Mutation_p.W98C|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000354224.6_Missense_Mutation_p.W98C|HGF_ENST00000444829.2_Missense_Mutation_p.W98C|HGF_ENST00000423064.2_Missense_Mutation_p.W98C|HGF_ENST00000457544.2_Missense_Mutation_p.W98C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	98	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.W98C(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGAAGGGGAACCAGAGGCATT	0.323000													32	110					3.76114e-14	4.75159e-14	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55433526	55433526	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:55433526C>A	ENST00000314259.3	+	1	913	c.884C>A	c.(883-885)gCc>gAc	p.A295D		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A295D(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTGAAAAGTGCCATGAAGAAA	0.433000													97	234					2.19568e-55	4.00902e-55	1	1	0
BCL11A	53335	broad.mit.edu	37	2	60773198	60773198	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:60773198G>T	ENST00000335712.6	-	2	520	c.293C>A	c.(292-294)cCc>cAc	p.P98H	BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.P98H|BCL11A_ENST00000356842.4_Missense_Mutation_p.P98H|BCL11A_ENST00000359629.5_Missense_Mutation_p.P98H|BCL11A_ENST00000358510.4_Missense_Mutation_p.P98H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	98	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.P98H(6)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AACCTCCACGGGATTGGATGC	0.473000			T	IGH@	B-CLL								27	60					9.80776e-20	1.34559e-19	1	1	0
IGHV4-61	28391	broad.mit.edu	37	14	107095455	107095455	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:107095455G>T	ENST00000390630.2	-	0	147																											GAGACCCACAGTGAGCCCTGG	0.622000													20	39					1.87028e-06	2.06434e-06	1	1	0
PSMD11	5717	broad.mit.edu	37	17	30800864	30800864	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:30800864C>T	ENST00000261712.3	+	7	952	c.689C>T	c.(688-690)tCa>tTa	p.S230L	PSMD11_ENST00000457654.2_Missense_Mutation_p.S230L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	230	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	p.S230L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			ACTGCGTACTCATACTTCTAT	0.413000													41	118					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934426	4934426	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:4934426C>T	ENST00000345988.2	-	22	4319	c.4230G>A	c.(4228-4230)cgG>cgA	p.R1410R	PPL_ENST00000590782.2_Silent_p.R1408R	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1410					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.R1410R(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCGGGCCTGCCGCTCGCGCT	0.692000													2	3					0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25669751	25669751	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:25669751T>A	ENST00000377961.2	+	5	517	c.349T>A	c.(349-351)Tat>Aat	p.Y117N	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	117	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding	p.Y117N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTGGCGCAAATATGACGCTGA	0.398000													61	100					0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87017643	87017643	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:87017643G>C	ENST00000409511.2	-	5	1241	c.211C>G	c.(211-213)Cta>Gta	p.L71V	CD8A_ENST00000538832.1_Missense_Mutation_p.L112V|CD8A_ENST00000456996.2_Missense_Mutation_p.L71V|CD8A_ENST00000409781.1_Missense_Mutation_p.L71V|CD8A_ENST00000352580.3_Missense_Mutation_p.L71V|CD8A_ENST00000283635.3_Missense_Mutation_p.L71V	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	71	Ig-like V-type.				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	p.L71V(2)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GAGAGGTATAGGAGGAAGGTG	0.667000													11	23					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81978919	81978919	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:81978919C>A	ENST00000356860.3	-	2	480	c.142G>T	c.(142-144)Gca>Tca	p.A48S	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A48S|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A48S	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	48						voltage-gated calcium channel complex	metal ion binding	p.A48S(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCTGTTTTTGCCAGTGTGACA	0.358000													95	274					1.37143e-49	2.4552e-49	1	1	0
FRMPD1	22844	broad.mit.edu	37	9	37744666	37744666	+	Silent	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:37744666A>C	ENST00000539465.1	+	16	3230	c.2637A>C	c.(2635-2637)gcA>gcC	p.A879A	FRMPD1_ENST00000377765.3_Silent_p.A879A|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	879						cytoskeleton|cytosol|plasma membrane		p.A879A(1)		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)		CCCTTGGTGCACCCTCCCCAA	0.607000													6	46					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95412526	95412526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:95412526C>T	ENST00000336148.5	-	7	1234	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*		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	p.W370*(2)		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)			ATTCTTTCTTCCAATTATTCA	0.378000								Direct reversal of damage;Homologous recombination					154	285					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88658607	88658607	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:88658607C>A	ENST00000340700.5	-	5	1265	c.814G>T	c.(814-816)Gtc>Ttc	p.V272F	KCNK10_ENST00000312350.5_Missense_Mutation_p.V277F|KCNK10_ENST00000319231.5_Missense_Mutation_p.V277F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	272					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.V277F(4)|p.V272F(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GTCAGAGTGACCACCACAAAG	0.542000													21	69					4.4004e-07	4.88638e-07	1	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72027129	72027129	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:72027129T>C	ENST00000378743.3	-	13	2958	c.2600A>G	c.(2599-2601)aAg>aGg	p.K867R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	867					RNA processing	intracellular	metal ion binding	p.K867R(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTAATCTTTGCTTCAGC	0.289000													18	17					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459809	141459809	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:141459809T>C	ENST00000389484.3	-	39	7174	c.6203A>G	c.(6202-6204)gAc>gGc	p.D2068G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2068					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2068G(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCTCAAGGTCGATTCTCTC	0.413000										TSP Lung(27;0.18)			132	306					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118969862	118969862	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:118969862G>A	ENST00000328252.3	+	3	1975	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	536	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.E536K(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATGGGACAAGGAGGCCCTGAT	0.433000													119	216					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966145	2966145	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:2966145C>A	ENST00000575751.1	-	1	756	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(4)		kidney(1)|lung(10)	11						GCAAGCGTCCCATAAAAGAGG	0.498000													46	201					1.05386e-31	1.65284e-31	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113102898	113102898	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:113102898C>A	ENST00000316851.7	+	10	1217	c.1217C>A	c.(1216-1218)cCa>cAa	p.P406Q	NCAM1_ENST00000401611.2_Missense_Mutation_p.P415Q|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.P288Q	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	416	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.P415Q(4)|p.P406Q(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCAGATGCCCCAAAGCTACAG	0.522000													15	62					4.7546e-09	5.39394e-09	1	1	0
KCNH3	23416	broad.mit.edu	37	12	49949578	49949578	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:49949578G>A	ENST00000257981.6	+	12	2572	c.2312G>A	c.(2311-2313)cGt>cAt	p.R771H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	771					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.R771H(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTATCCCCACGTCGAACAGCA	0.697000													8	6					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235237	137235237	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:137235237C>T	ENST00000508638.1	+	5	612	c.557C>T	c.(556-558)cCt>cTt	p.P186L	PKD2L2_ENST00000350250.4_Missense_Mutation_p.P152L|PKD2L2_ENST00000502810.1_Missense_Mutation_p.P186L|PKD2L2_ENST00000290431.5_Missense_Mutation_p.P186L|PKD2L2_ENST00000508883.1_Missense_Mutation_p.P186L	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	186						integral to membrane	calcium ion binding|ion channel activity	p.P186L(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCAACTCCCCTTGGCACTGG	0.353000													21	36					0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27093631	27093631	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:27093631T>A	ENST00000341217.5	-	2	270	c.55A>T	c.(55-57)Acg>Tcg	p.T19S	FAM222B_ENST00000577682.1_Missense_Mutation_p.T19S|FAM222B_ENST00000452648.3_Missense_Mutation_p.T19S|FAM222B_ENST00000583953.1_Missense_Mutation_p.T19S|FAM222B_ENST00000582266.1_Missense_Mutation_p.T19S|FAM222B_ENST00000582059.1_Missense_Mutation_p.T19S|FAM222B_ENST00000583522.1_Missense_Mutation_p.T19S|FAM222B_ENST00000581381.1_Missense_Mutation_p.T19S|FAM222B_ENST00000581407.1_Missense_Mutation_p.T19S	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	19								p.T19S(4)|p.T19A(1)									TTCATCTGCGTGTGAGAAAGA	0.478000													31	74					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22902056	22902056	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:22902056C>A	ENST00000361524.3	-	3	284	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L	ZNF521_ENST00000538137.2_Missense_Mutation_p.V46L|ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	46					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.V46L(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGCTGTGCACAGCTTCGTCT	0.463000			T	PAX5	ALL								120	222					3.1838e-27	4.7595e-27	1	1	0
FERD3L	222894	broad.mit.edu	37	7	19184711	19184711	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:19184711G>T	ENST00000275461.3	-	1	333	c.275C>A	c.(274-276)cCc>cAc	p.P92H	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P92H(3)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTTCCTCTTGGGGCGGCCTAA	0.617000													24	47					4.87955e-14	6.15394e-14	1	1	0
FLG	2312	broad.mit.edu	37	1	152277375	152277375	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:152277375G>C	ENST00000368799.1	-	3	10022	c.9987C>G	c.(9985-9987)gaC>gaG	p.D3329E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3329	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D3329E(2)		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)			AGTGTCTACTGTCTCTGACTG	0.572000									Ichthyosis				464	1370					0	0	1	0	0
CTRB2	440387	broad.mit.edu	37	16	75238132	75238132	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:75238132G>T	ENST00000303037.8	-	7	762	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	240	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	p.T240N(2)		endometrium(1)|large_intestine(1)|lung(2)	4						GGGCGTGGTGGTAGAGCAGGT	0.667000													20	55					2.44723e-14	3.10236e-14	1	1	0
RYR1	6261	broad.mit.edu	37	19	38976573	38976573	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:38976573C>A	ENST00000355481.4	+	34	5409	c.5278C>A	c.(5278-5280)Cat>Aat	p.H1760N	RYR1_ENST00000359596.3_Missense_Mutation_p.H1760N|RYR1_ENST00000360985.3_Missense_Mutation_p.H1760N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1760	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.H1760N(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACCCCCGGCATGGCCTGCC	0.642000													9	17					6.42651e-13	7.92783e-13	1	1	0
ZMAT1	84460	broad.mit.edu	37	X	101153123	101153123	+	Translation_Start_Site	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:101153123T>A	ENST00000458570.1	-	0	492				ZMAT1_ENST00000540921.1_Missense_Mutation_p.K100M|ZMAT1_ENST00000372782.3_Missense_Mutation_p.K100M			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1							nucleus	zinc ion binding	p.K100M(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTTCATTTTCTTACCAGGCAC	0.318000													109	164					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101095256	101095256	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:101095256C>A	ENST00000369162.2	-	21	3668	c.3324G>T	c.(3322-3324)agG>agT	p.R1108S		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1108	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R1108S(2)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GATTCAGGAGCCTGTAGGTCA	0.428000													54	59					2.32582e-20	3.22713e-20	1	1	0
LOC647264	647264	broad.mit.edu	37	13	64321150	64321150	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:64321150G>T	ENST00000453638.2	+	1	217	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C															p.G73C(2)		endometrium(2)|lung(1)|urinary_tract(1)	4						ctgtggctatggctctggcta	0.567000													16	23					3.6726e-16	4.80515e-16	1	1	0
BTBD11	121551	broad.mit.edu	37	12	108042981	108042981	+	Splice_Site	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:108042981A>T	ENST00000280758.5	+	15	3450		c.e15-1		BTBD11_ENST00000490090.2_Splice_Site|BTBD11_ENST00000494235.2_Splice_Site|BTBD11_ENST00000420571.2_Splice_Site|BTBD11_ENST00000357167.4_Splice_Site	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11							integral to membrane	DNA binding	p.?(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GTTTTCTTCCAGCTGGTTATG	0.468000													132	169					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24817548	24817548	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:24817548A>G	ENST00000395799.3	+	16	4402	c.4273A>G	c.(4273-4275)Agg>Ggg	p.R1425G	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1376G	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1425					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.R1425G(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCAGCAGCAAAGGGCGCAGAG	0.512000													64	188					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41422935	41422935	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:41422935C>G	ENST00000551295.2	+	23	3011	c.2894C>G	c.(2893-2895)cCa>cGa	p.P965R	CNTN1_ENST00000347616.1_Missense_Mutation_p.P965R|CNTN1_ENST00000348761.2_Missense_Mutation_p.P954R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	965	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.P965R(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATAGAAGTCCCAATCCCCAGA	0.448000													307	390					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2808659	2808659	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:2808659G>T	ENST00000520002.1	-	67	10736	c.10181C>A	c.(10180-10182)tCg>tAg	p.S3394*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S3216*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S3393*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S3217*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S3394*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S3217*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3394						integral to membrane		p.S3122*(2)|p.S3393*(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCACTGGCGAGGCTTCGCT	0.458000													47	97					2.69953e-25	3.96292e-25	1	1	0
OR2K2	26248	broad.mit.edu	37	9	114090287	114090287	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:114090287G>T	ENST00000374428.1	-	1	513	c.514C>A	c.(514-516)Cgg>Agg	p.R172R	OR2K2_ENST00000302681.1_Silent_p.R143R			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172R(2)|p.R143R(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTAGCCATCCGTGCACAGACG	0.547000													323	287					7.06172e-221	1.45191e-220	1	1	0
ARHGAP5	394	broad.mit.edu	37	14	32560198	32560198	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:32560198G>C	ENST00000345122.3	+	2	638	c.323G>C	c.(322-324)cGg>cCg	p.R108P	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R108P|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R108P|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R108P|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	108					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.R108S(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGCCTCATCGGAGTACGAAT	0.378000													45	145					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47759675	47759675	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:47759675G>T	ENST00000489301.2	+	3	473	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.D130Y|OPN5_ENST00000393699.2_Missense_Mutation_p.D130Y			Q6U736	OPN5_HUMAN	opsin 5	130					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.D130Y(2)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTCAGCCTGGATCGATATTT	0.463000													52	159					1.95512e-22	2.77574e-22	1	1	0
AHDC1	27245	broad.mit.edu	37	1	27876408	27876408	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:27876408C>G	ENST00000374011.2	-	6	3187	c.2219G>C	c.(2218-2220)cGc>cCc	p.R740P	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.R740P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	740	Gly-rich.						DNA binding	p.R740P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCGTCTCTTGCGCTTTGGCTT	0.677000													4	15					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489566	124489566	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:124489566A>G	ENST00000284288.2	+	4	981	c.914A>G	c.(913-915)tAt>tGt	p.Y305C		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	305					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.Y305C(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTATCTGTCTATGAGATGCTC	0.443000													34	82					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172163026	172163026	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:172163026G>T	ENST00000241256.2	-	2	1068	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	342					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.P342P(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCTGGGAGAAGGGTTCGAATC	0.478000													29	82					9.78306e-22	1.37827e-21	1	1	0
SEC23A	10484	broad.mit.edu	37	14	39556195	39556195	+	Silent	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:39556195A>C	ENST00000537403.1	-	2	1217	c.15T>G	c.(13-15)tcT>tcG	p.S5S	SEC23A_ENST00000307712.6_Silent_p.S207S|SEC23A_ENST00000545328.2_Silent_p.S178S|SEC23A_ENST00000536508.1_Silent_p.S81S			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	207					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	p.S207S(2)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTGGTACTTTAGAGAGCCCCA	0.363000													26	68					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12044543	12044543	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:12044543C>T	ENST00000415385.3	+	12	1252	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L	MAP2K4_ENST00000353533.5_Missense_Mutation_p.P389L			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	389					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(2)|p.P389L(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATCAAATGCCAGCTACTCCC	0.408000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								128	253					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356498	149356498	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:149356498C>A	ENST00000355292.3	-	2	1877	c.1515G>T	c.(1513-1515)gaG>gaT	p.E505D	NR3C2_ENST00000358102.3_Missense_Mutation_p.E505D|NR3C2_ENST00000511528.1_Missense_Mutation_p.E505D|NR3C2_ENST00000344721.4_Missense_Mutation_p.E505D|NR3C2_ENST00000342437.4_Missense_Mutation_p.E505D|NR3C2_ENST00000512865.1_Missense_Mutation_p.E505D			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	505	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.E505D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGATGCTGGCCTCTGGGTAAT	0.493000													36	107					2.24893e-16	2.95298e-16	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72968044	72968044	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:72968044C>G	ENST00000262209.4	-	11	1448	c.1241G>C	c.(1240-1242)tGt>tCt	p.C414S	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	414						integral to plasma membrane		p.C414S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TAGAGGAGTACACCCATCGTT	0.363000													26	119					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380866	78380866	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:78380866C>A	ENST00000278550.7	-	32	6986	c.6524G>T	c.(6523-6525)cGa>cTa	p.R2175L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.R2175L(4)|p.R2175Q(1)									CTTCACTACTCGCCCCATGTT	0.498000													40	59					1.38162e-09	1.58455e-09	1	1	0
ZBBX	79740	broad.mit.edu	37	3	167031857	167031857	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:167031857C>A	ENST00000392766.2	-	16	1662	c.1322G>T	c.(1321-1323)gGc>gTc	p.G441V	ZBBX_ENST00000392767.2_Missense_Mutation_p.G441V|ZBBX_ENST00000455345.2_Missense_Mutation_p.G441V|ZBBX_ENST00000392764.1_Missense_Mutation_p.G412V|ZBBX_ENST00000307529.5_Missense_Mutation_p.G441V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	441						intracellular	zinc ion binding	p.G441V(4)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGATGGATGCCATTTTCATA	0.299000													56	155					2.17656e-39	3.63089e-39	1	1	0
LDLRAD4	753	broad.mit.edu	37	18	13645329	13645329	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:13645329G>T	ENST00000361205.4	+	7	1262	c.594G>T	c.(592-594)atG>atT	p.M198I	RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.M198I|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.M161I|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.M143I|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.M121I|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.M100I|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.M180I	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4									p.M161I(2)|p.M198I(2)									AACAGCAGATGGAACTCAACC	0.567000													15	45					2.48551e-13	3.0869e-13	1	1	0
SYT12	91683	broad.mit.edu	37	11	66812117	66812117	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:66812117C>A	ENST00000393946.2	+	9	2053	c.891C>A	c.(889-891)gcC>gcA	p.A297A	SYT12_ENST00000527043.1_Silent_p.A297A|SYT12_ENST00000525457.1_Silent_p.A297A			Q8IV01	SYT12_HUMAN	synaptotagmin XII	297	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane		p.A297A(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TCCCCACAGCCGAGCGCCTCA	0.662000													14	24					1.15088e-07	1.28772e-07	1	1	0
MAP2K1	5604	broad.mit.edu	37	15	66729153	66729153	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:66729153T>A	ENST00000307102.5	+	3	892	c.361T>A	c.(361-363)Tgc>Agc	p.C121S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	121	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C121S(4)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TCTGCATGAGTGCAACTCTCC	0.502000													60	132					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395930	47395930	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:47395930G>T	ENST00000310638.4	-	12	1448	c.1417C>A	c.(1417-1419)Ctg>Atg	p.L473M	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L474M	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	473					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.L473M(2)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGCAGGGTCAGGGCCGTGGCC	0.542000													179	445					2.05324e-106	4.07319e-106	1	1	0
HHIPL2	79802	broad.mit.edu	37	1	222713410	222713410	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:222713410C>A	ENST00000343410.6	-	4	1450	c.1392G>T	c.(1390-1392)tgG>tgT	p.W464C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	464					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.W464C(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCTTTGCTCTCCAGCCATAGT	0.488000													98	238					1.81242e-41	3.10097e-41	1	1	0
SLC27A6	28965	broad.mit.edu	37	5	128324424	128324424	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:128324424C>A	ENST00000262462.4	+	3	1827	c.817C>A	c.(817-819)Ctg>Atg	p.L273M	SLC27A6_ENST00000506176.1_Missense_Mutation_p.L273M|SLC27A6_ENST00000395266.1_Missense_Mutation_p.L273M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	273					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.L273M(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCAGCTATCCTGGGAATTTC	0.358000													96	170					1.90054e-66	3.56777e-66	1	1	0
ACTN3	89	broad.mit.edu	37	11	66322052	66322052	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:66322052C>A	ENST00000513398.1	+	0	612				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	p.T171K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CAGAGGAAGACAGCACCGTAC	0.582000													12	24					1.05317e-09	1.21929e-09	1	1	0
GIMAP8	155038	broad.mit.edu	37	7	150174417	150174417	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:150174417G>T	ENST00000307271.3	+	5	2121	c.1547G>T	c.(1546-1548)cGc>cTc	p.R516L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	516						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R516L(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAGGTCAAGCGCTGTTTGTCC	0.522000													52	127					9.22156e-22	1.30166e-21	1	1	0
TEX13A	56157	broad.mit.edu	37	X	104465059	104465059	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:104465059G>C	ENST00000372578.3	-	2	134	c.23C>G	c.(22-24)cCc>cGc	p.P8R	IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.P8R|TEX13A_ENST00000413579.1_Missense_Mutation_p.P8R	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	8						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCGCTACTGGGGTCCTCAGG	0.537000													42	17					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248432	3248432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:3248432G>T	ENST00000217939.6	-	4	490	c.336C>A	c.(334-336)taC>taA	p.Y112*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	112						extracellular region		p.Y112*(4)		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)				TCAGCTTGTTGTAGCTGAACT	0.428000													4	16					0.00909568	0.00924685	1	1	0
MAPK4	5596	broad.mit.edu	37	18	48248367	48248367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:48248367G>T	ENST00000400384.2	+	4	1787	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Nonsense_Mutation_p.E40*	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	251	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.E251*(2)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AATCCGGGAGGAAGACAAGGA	0.577000													9	12					0.00621372	0.00639673	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99520213	99520213	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:99520213T>C	ENST00000376460.1	-	29	3223	c.3143A>G	c.(3142-3144)tAc>tGc	p.Y1048C	DOCK9_ENST00000339416.2_Missense_Mutation_p.Y1049C|DOCK9_ENST00000448493.2_Missense_Mutation_p.Y1060C|DOCK9_ENST00000442173.1_Missense_Mutation_p.Y1048C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1049					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.Y1049C(2)|p.Y1060C(2)|p.Y1048C(2)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACAGCTAATGTAGTTGTTGAT	0.428000													60	114					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136164	55136164	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:55136164G>T	ENST00000314706.3	+	1	805	c.805G>T	c.(805-807)Gca>Tca	p.A269S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A269S(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTACACCTGTGCATCCCACGT	0.423000													145	410					3.62976e-74	6.95624e-74	1	1	0
CYLD	1540	broad.mit.edu	37	16	50788335	50788335	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:50788335G>T	ENST00000540145.1	+	6	1328	c.913_splice	c.e6+1	p.A305_splice	CYLD_ENST00000566206.1_Splice_Site_p.E305_splice|CYLD_ENST00000569418.1_Splice_Site_p.E305_splice|CYLD_ENST00000568704.2_Splice_Site_p.E305_splice|CYLD_ENST00000427738.3_Splice_Site_p.A305_splice|CYLD_ENST00000398568.2_Splice_Site_p.E305_splice|CYLD_ENST00000311559.9_Splice_Site_p.A305_splice|CYLD_ENST00000564326.1_Splice_Site_p.E305_splice			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	305	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.A305S(2)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TATCATCCCAGGTATGTTTTC	0.328000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				36	36					1.23537e-32	1.95845e-32	1	1	0
FARP2	9855	broad.mit.edu	37	2	242402803	242402803	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:242402803G>T	ENST00000264042.3	+	16	1901	c.1731G>T	c.(1729-1731)acG>acT	p.T577T	FARP2_ENST00000545004.1_Silent_p.T577T|FARP2_ENST00000373287.4_Silent_p.T577T	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	577	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.T577T(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CTCTGATGACGCTGCTCTTCT	0.597000													17	45					8.60227e-14	1.08118e-13	1	1	0
SLC9C1	285335	broad.mit.edu	37	3	111870801	111870801	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:111870801G>T	ENST00000305815.5	-	28	3679	c.3427C>A	c.(3427-3429)Cac>Aac	p.H1143N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.H1095N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1143					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.H1143N(2)									GCGGCACTGTGTGCTCCATCC	0.522000													49	161					1.19451e-25	1.76059e-25	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20269349	20269349	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:20269349A>G	ENST00000245957.5	+	23	2969	c.2893A>G	c.(2893-2895)Acc>Gcc	p.T965A	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	965								p.T965A(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGTGATTGATACCAACTTCCA	0.433000													195	497					0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114611088	114611088	+	Missense_Mutation	SNP	C	C	A	rs141845700		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:114611088C>A	ENST00000379611.5	-	6	1030	c.743G>T	c.(742-744)gGt>gTt	p.G248V	CCDC112_ENST00000395557.4_Missense_Mutation_p.G165V|CCDC112_ENST00000512261.1_Missense_Mutation_p.G165V|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000506442.1_Missense_Mutation_p.G165V	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	165								p.G248V(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ATCCCAGGCACCTTGTCGCCC	0.408000													35	67					1.69901e-12	2.07155e-12	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125281944	125281944	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:125281944G>T	ENST00000431078.1	+	9	1753	c.1389G>T	c.(1387-1389)acG>acT	p.T463T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	463	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T463T(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCGCATCACGCTCACTCTGG	0.493000													123	204					5.9345e-76	1.14932e-75	1	1	0
FAT3	120114	broad.mit.edu	37	11	92620173	92620173	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:92620173G>A	ENST00000298047.6	+	24	12962	c.12945G>A	c.(12943-12945)ggG>ggA	p.G4315G	FAT3_ENST00000409404.2_Silent_p.G4315G|FAT3_ENST00000525166.1_Silent_p.G4165G|FAT3_ENST00000533797.1_Silent_p.G650G|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4315					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.G4315G(4)|p.G890G(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGACAAAGGGGTTGATGACC	0.493000										TCGA Ovarian(4;0.039)			5	21					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77245130	77245130	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:77245130G>T	ENST00000341514.6	+	4	1167	c.1012G>T	c.(1012-1014)Gta>Tta	p.V338L	ATP7A_ENST00000343533.5_Missense_Mutation_p.V338L|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	338	HMA 3.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.V338L(4)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AATAGAGGCTGTATCACCGGG	0.418000													110	80					1.21829e-65	2.27539e-65	1	1	0
KCNC4	3749	broad.mit.edu	37	1	110754218	110754218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:110754218G>T	ENST00000369787.3	+	1	124	c.97G>T	c.(97-99)Gag>Tag	p.E33*	KCNC4_ENST00000413138.3_Nonsense_Mutation_p.E33*|KCNC4_ENST00000438661.2_Nonsense_Mutation_p.E33*	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	33					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E33*(4)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCAAGGGCGAGGCGTCGGA	0.627000													3	22					0.150653	0.151479	1	1	0
WDR49	151790	broad.mit.edu	37	3	167322244	167322244	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:167322244G>T	ENST00000453925.2	-	2	141	c.107C>A	c.(106-108)gCa>gAa	p.A36E	WDR49_ENST00000308378.3_5'UTR|WDR49_ENST00000479765.1_Missense_Mutation_p.A324E			Q8IV35	WDR49_HUMAN	WD repeat domain 49	158										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTCTAAAGATGCATTGTAAGT	0.313000													9	44					3.86212e-05	4.15051e-05	1	1	0
SLFN13	146857	broad.mit.edu	37	17	33768287	33768287	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:33768287C>G	ENST00000285013.6	-	6	2296	c.2021G>C	c.(2020-2022)cGt>cCt	p.R674P	SLFN13_ENST00000534689.1_Missense_Mutation_p.R356P|SLFN13_ENST00000360502.2_Missense_Mutation_p.R356P|SLFN13_ENST00000542635.1_Missense_Mutation_p.R674P|SLFN13_ENST00000533791.1_Missense_Mutation_p.R674P|SLFN13_ENST00000526861.1_Missense_Mutation_p.R674P	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	674						intracellular	ATP binding	p.R674P(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCTTCAGTACGGAAATTCTG	0.433000													50	207					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118982315	118982315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:118982315C>A	ENST00000328252.3	+	5	2387	c.2018C>A	c.(2017-2019)gCg>gAg	p.A673E	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	673					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.A673E(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGGAAACCAGCGCCTGTTGCC	0.572000													175	273					5.09711e-64	9.47159e-64	1	1	0
SLC2A3	6515	broad.mit.edu	37	12	8075422	8075422	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:8075422C>A	ENST00000075120.7	-	9	1507	c.1267G>T	c.(1267-1269)Gct>Tct	p.A423S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	423					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.A423S(2)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CTTACAGCAGCGGAGGGGAAG	0.547000													32	55					5.43694e-19	7.41766e-19	1	1	0
SULF2	55959	broad.mit.edu	37	20	46313275	46313275	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:46313275C>A	ENST00000359930.4	-	6	1639	c.788G>T	c.(787-789)cGc>cTc	p.R263L	SULF2_ENST00000467815.1_Missense_Mutation_p.R263L|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.R263L|SULF2_ENST00000484875.1_Missense_Mutation_p.R263L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	263					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.R263L(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCCCGTGTAGCGCATGATCCA	0.597000													10	11					1.61879e-10	1.89807e-10	1	1	0
A2M	2	broad.mit.edu	37	12	9225296	9225296	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:9225296C>A	ENST00000318602.7	-	30	4235	c.3928G>T	c.(3928-3930)Ggg>Tgg	p.G1310W		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1310					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.G1310W(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTGTATTCCCCAGGCAGCTCT	0.517000													77	116					1.69331e-39	2.83119e-39	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55432926	55432926	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:55432926G>C	ENST00000314259.3	+	1	313	c.284G>C	c.(283-285)tGc>tCc	p.C95S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95S(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAAAGGCTGCCTCACCCAG	0.527000													117	284					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62044883	62044883	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:62044883G>C	ENST00000354587.3	-	13	1775	c.1599C>G	c.(1597-1599)ccC>ccG	p.P533P	KCNQ2_ENST00000359689.1_Silent_p.P561P|KCNQ2_ENST00000344462.3_Silent_p.P521P|KCNQ2_ENST00000430658.1_Silent_p.P530P|KCNQ2_ENST00000370226.1_Silent_p.P531P|KCNQ2_ENST00000370222.3_Silent_p.P533P|KCNQ2_ENST00000359125.2_Silent_p.P561P|KCNQ2_ENST00000360480.3_Silent_p.P533P|KCNQ2_ENST00000370224.1_Silent_p.P533P|KCNQ2_ENST00000357249.2_Silent_p.P543P			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	561					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P561P(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TCACGTCGTAGGGCCGCAGGC	0.652000													9	28					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103553402	103553402	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:103553402C>T	ENST00000226578.4	-	17	2551	c.2452G>A	c.(2452-2454)Gac>Aac	p.D818N	MANBA_ENST00000505239.1_Missense_Mutation_p.D761N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	818					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.D818N(2)|p.D818H(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTCTCCAGGTCAAAAACAAAT	0.418000													34	142					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30955326	30955326	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:30955326C>A	ENST00000295055.8	-	20	2081	c.1905G>T	c.(1903-1905)ctG>ctT	p.L635L	CAPN13_ENST00000534090.2_Silent_p.L635L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	635					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.L635L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CAAGCCGCATCAGGAAGCAGA	0.607000													24	41					1.2476e-16	1.64701e-16	1	1	0
PCBP3	54039	broad.mit.edu	37	21	47360037	47360037	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:47360037G>A	ENST00000400314.1	+	15	1341	c.1003G>A	c.(1003-1005)Ggg>Agg	p.G335R	PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400309.1_Missense_Mutation_p.G334R|PCBP3_ENST00000400308.1_Missense_Mutation_p.G309R|PCBP3_ENST00000449640.1_Missense_Mutation_p.G335R|PCBP3_ENST00000400304.1_Missense_Mutation_p.G325R|PCBP3_ENST00000400310.1_Missense_Mutation_p.G315R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	335	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.G303R(2)|p.G335R(2)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CGCCACGGAAGGGTCCTCAGA	0.527000													4	13					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237713847	237713847	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:237713847G>T	ENST00000366574.2	+	27	3387	c.3070G>T	c.(3070-3072)Gta>Tta	p.V1024L	RYR2_ENST00000360064.6_Missense_Mutation_p.V1022L|RYR2_ENST00000542537.1_Missense_Mutation_p.V1008L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1024	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V1022L(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTGCAGGACGTAAAGAACAG	0.463000													15	49					1.96292e-10	2.2906e-10	1	1	0
SDE2	163859	broad.mit.edu	37	1	226176062	226176062	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:226176062T>G	ENST00000272091.7	-	6	687	c.669A>C	c.(667-669)gcA>gcC	p.A223A	SDE2_ENST00000366817.1_Silent_p.A128A	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)									p.A223A(2)|p.A211A(2)									TGGACCCTTCTGCAGTCTCTA	0.473000													57	125					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223158469	223158469	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:223158469G>C	ENST00000258387.5	-	5	843	c.594C>G	c.(592-594)gcC>gcG	p.A198A	PAX3_ENST00000350526.4_Intron|PAX3_ENST00000392070.2_Intron|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000409828.3_3'UTR|PAX3_ENST00000392069.2_Intron|PAX3_ENST00000409551.3_Intron|PAX3_ENST00000336840.6_Intron	NM_013942.4	NP_039230.1	P23760	PAX3_HUMAN	paired box 3	198					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A198A(2)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGAGACCAGGGCCTTTCCTG	0.488000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						34	96					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113304689	113304689	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:113304689G>C	ENST00000263331.5	+	2	858	c.278G>C	c.(277-279)tGc>tCc	p.C93S	POLR1B_ENST00000409894.3_Missense_Mutation_p.C93S|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000417433.2_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.C131S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	93					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.C93S(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGGACCATCTGCAAAGAGGCC	0.458000													42	136					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106960961	106960961	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:106960961A>G	ENST00000369701.3	+	16	2438	c.2211A>G	c.(2209-2211)tcA>tcG	p.S737S	SORCS3_ENST00000369699.4_Silent_p.S23S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	737						integral to membrane	neuropeptide receptor activity	p.S737S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGACCACTCAGGATCAGTGG	0.493000													83	155					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112303791	112303791	+	Translation_Start_Site	SNP	A	A	T	rs17569368	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:112303791A>T	ENST00000475700.1	+	0	656				DDX20_ENST00000369702.4_Intron|DDX20_ENST00000536167.1_Intron			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20						assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGAAATAAAAGGATAGTCAT	0.338000													4	56					0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134040330	134040330	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:134040330C>A	ENST00000368622.1	-	4	643	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	STK32C_ENST00000368625.4_Missense_Mutation_p.D218Y			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	205							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.D205Y(2)|p.D218Y(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CGCAGGTAGTCCAGAGCCAGT	0.642000													4	14					0.00909568	0.00924685	1	1	0
ALB	213	broad.mit.edu	37	4	74283925	74283925	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:74283925G>C	ENST00000295897.4	+	12	1638	c.1549G>C	c.(1549-1551)Gtc>Ctc	p.V517L	ALB_ENST00000509063.1_Missense_Mutation_p.V517L|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.V402L|ALB_ENST00000415165.2_Missense_Mutation_p.V325L|ALB_ENST00000503124.1_Missense_Mutation_p.V367L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	517	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.V517L(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGCTCTGGAAGTCGATGAAAC	0.428000													85	297					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15809791	15809791	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:15809791C>A	ENST00000375910.3	+	5	414	c.389C>A	c.(388-390)cCc>cAc	p.P130H	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	130	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P130H(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CTGGCTAACCCCGTCTCCCTC	0.612000													27	50					3.61848e-18	4.84665e-18	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128956400	128956400	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:128956400G>T	ENST00000274487.4	+	9	1695	c.1550G>T	c.(1549-1551)gGt>gTt	p.G517V	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	517	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G517V(2)		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)		CAGAATCTTGGTGACGTTTCA	0.418000													237	376					3.11003e-157	6.32345e-157	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166198918	166198918	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:166198918G>T	ENST00000375437.2	+	15	2791	c.2501G>T	c.(2500-2502)aGt>aTt	p.S834I	SCN2A_ENST00000357398.3_Missense_Mutation_p.S834I|SCN2A_ENST00000375427.2_Missense_Mutation_p.S834I|SCN2A_ENST00000283256.6_Missense_Mutation_p.S834I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	834					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S834I(4)		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)	GTGAGCCTTAGTTTAATGGAA	0.358000													67	129					1.24833e-42	2.15594e-42	1	1	0
CRISP1	167	broad.mit.edu	37	6	49806202	49806202	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:49806202C>G	ENST00000335847.4	-	7	671	c.570G>C	c.(568-570)aaG>aaC	p.K190N	CRISP1_ENST00000536021.1_Intron|CRISP1_ENST00000507853.1_Intron|CRISP1_ENST00000505118.1_Missense_Mutation_p.K190N|CRISP1_ENST00000355791.2_Missense_Mutation_p.K190N|CRISP1_ENST00000329411.5_Intron	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	190					fusion of sperm to egg plasma membrane	extracellular space		p.K190N(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGACGCCTGTCTTATAAGGTT	0.358000													48	273					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42537628	42537628	+	RNA	SNP	T	T	C	rs150786922	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr22:42537628T>C	ENST00000435101.1	-	0	108				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						AGGAACAGGTTACCCACCACT	0.612000													4	38					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125301253	125301253	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:125301253G>T	ENST00000298282.9	+	13	1655	c.1384G>T	c.(1384-1386)Gac>Tac	p.D462Y	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.D398Y	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	462						nucleus	sequence-specific DNA binding transcription factor activity	p.D462Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AAATGTCAGCGACCTGGGCTT	0.587000													24	81					7.92952e-12	9.54142e-12	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922547	24922547	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:24922547C>A	ENST00000329468.2	+	1	2007	c.1533C>A	c.(1531-1533)gtC>gtA	p.V511V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.V511V(2)									AGCCTCCCGTCACAAGGGAGT	0.537000													93	130					2.179e-33	3.4845e-33	1	1	0
RUNDC3A	10900	broad.mit.edu	37	17	42394865	42394865	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:42394865C>G	ENST00000225441.7	+	11	1448	c.1211C>G	c.(1210-1212)cCa>cGa	p.P404R	RUNDC3A_ENST00000426726.3_Intron|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.P399R	NM_001144826.1|NM_006695.4	NP_001138298.1|NP_006686.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	0					small GTPase mediated signal transduction		small GTPase regulator activity	p.P404R(2)		large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		agctcagagccaaattagtgg	0.493000													6	31					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60064675	60064675	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:60064675G>T	ENST00000355131.3	+	4	373	c.150G>T	c.(148-150)gtG>gtT	p.V50V	MS4A4A_ENST00000395016.3_Silent_p.V50V|MS4A4A_ENST00000337908.4_Silent_p.V69V|MS4A4A_ENST00000532114.1_Silent_p.V69V	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	69						integral to membrane	receptor activity	p.V50V(2)|p.V69V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TTTAGGTTGTGCAGATTCTGA	0.423000													93	342					4.49162e-49	8.00207e-49	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130425910	130425910	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:130425910G>A	ENST00000356763.3	-	11	3160	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	868					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.P868L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CATGTTTGGTGGGTCCAGTGA	0.443000													59	166					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102509514	102509514	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:102509514G>A	ENST00000370296.2	+	2	605	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Missense_Mutation_p.G19S|PAX2_ENST00000428433.1_Missense_Mutation_p.G19S|PAX2_ENST00000355243.3_Missense_Mutation_p.G19S|PAX2_ENST00000556085.1_Missense_Mutation_p.G18S			Q02962	PAX2_HUMAN	paired box 2	19	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.G19S(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGGGCACGGGGGTGTGAACCA	0.672000													7	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452755	179452755	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:179452755G>C	ENST00000589042.1	-	305	63603	c.63379C>G	c.(63379-63381)Cgc>Ggc	p.R21127G	TTN_ENST00000359218.5_Missense_Mutation_p.R12187G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12254G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12062G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18559G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19486G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19486	Fibronectin type-III 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R18559G(2)|p.R12187G(2)|p.R18557G(2)|p.R12062G(2)|p.R12254G(2)		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)			AATTCCTTGCGTACAAGCTGT	0.473000													13	74					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32962070	32962070	+	Silent	SNP	G	G	T	rs146893987	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:32962070G>T	ENST00000321639.5	+	8	1999	c.1671G>T	c.(1669-1671)acG>acT	p.T557T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	557						integral to membrane		p.T557T(3)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		ACAGCAGCACGCTGGCAGGAC	0.617000													9	24					3.03607e-14	3.8422e-14	1	1	0
EPB41L3	23136	broad.mit.edu	37	18	5416157	5416157	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:5416157C>A	ENST00000341928.2	-	13	2067	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R576I|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	576	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.R576I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGTTTGCTGTCTGTAGCTAAA	0.577000													66	173					1.356e-25	1.9946e-25	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124364246	124364246	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:124364246G>A	ENST00000409039.3	+	49	8203	c.8178G>A	c.(8176-8178)agG>agA	p.R2726R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2726					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1318R(2)|p.R2726R(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGTGATGAGGGATCCCATAT	0.493000													514	579					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93004039	93004039	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:93004039G>T	ENST00000523629.1	-	7	1273	c.819C>A	c.(817-819)ggC>ggA	p.G273G	RUNX1T1_ENST00000518844.1_Silent_p.G246G|RUNX1T1_ENST00000422361.2_Silent_p.G236G|RUNX1T1_ENST00000396218.1_Silent_p.G246G|RUNX1T1_ENST00000436581.2_Silent_p.G284G|RUNX1T1_ENST00000265814.3_Silent_p.G273G|RUNX1T1_ENST00000520724.1_Silent_p.G236G|RUNX1T1_ENST00000360348.2_Silent_p.G236G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	273					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G273G(2)|p.G284G(2)|p.G236G(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTACCGCTGGCCTGGGCTAA	0.507000													57	112					5.82218e-30	8.94033e-30	1	1	0
MDC1	9656	broad.mit.edu	37	6	30680116	30680116	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:30680116T>C	ENST00000376406.3	-	5	2250	c.1603A>G	c.(1603-1605)Att>Gtt	p.I535V	MDC1_ENST00000376405.2_Missense_Mutation_p.I535V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	535	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.I535V(2)		breast(2)|kidney(1)|ovary(1)	4						ATATGTATAATGGCTGACCCT	0.502000								Other conserved DNA damage response genes					19	92					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835510	247835510	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:247835510C>A	ENST00000359688.2	-	1	855	c.834G>T	c.(832-834)gtG>gtT	p.V278V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V278V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGTGGGAGTCACAAGAGTAT	0.438000													105	209					5.09347e-41	8.67427e-41	1	1	0
ATOH8	84913	broad.mit.edu	37	2	85991289	85991289	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:85991289G>C	ENST00000306279.3	+	2	1240	c.944G>C	c.(943-945)cGt>cCt	p.R315P	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	315					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R315P(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCGAGGGACGTGCCAAGAAG	0.657000													10	83					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115346543	115346543	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:115346543G>T	ENST00000357872.4	+	14	2323	c.2199G>T	c.(2197-2199)agG>agT	p.R733S		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		733					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.R733S(2)									TGGTAACCAGGGATCTTGTTT	0.308000													33	90					5.71845e-15	7.32521e-15	1	1	0
PER2	8864	broad.mit.edu	37	2	239164502	239164502	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:239164502C>A	ENST00000254657.3	-	18	2395	c.2116G>T	c.(2116-2118)Ggc>Tgc	p.G706C	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	706	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.G706C(2)		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)		AGGGCAGGGCCCGCCAGGCAG	0.587000													13	51					0.00316338	0.0032935	1	1	0
MRPL39	54148	broad.mit.edu	37	21	26969716	26969716	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:26969716C>A	ENST00000307301.7	-	6	640	c.599G>T	c.(598-600)cGt>cTt	p.R200L	MRPL39_ENST00000352957.4_Missense_Mutation_p.R200L	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	200						mitochondrial ribosome	nucleotide binding	p.R200L(4)		endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TGTGAAGGAACGTAAGTTCTC	0.328000													14	38					0.00498961	0.00515827	1	1	0
ADH1B	125	broad.mit.edu	37	4	100235229	100235229	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:100235229C>A	ENST00000305046.8	-	6	644	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	ADH1B_ENST00000394887.3_Missense_Mutation_p.G153C			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	193					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.G193C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGGTAGAGCCTGGGGTGACC	0.468000													155	326					5.03958e-58	9.24764e-58	1	1	0
TEX2	55852	broad.mit.edu	37	17	62230430	62230430	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:62230430C>G	ENST00000258991.3	-	10	3120	c.3036G>C	c.(3034-3036)gaG>gaC	p.E1012D	TEX2_ENST00000584379.1_Missense_Mutation_p.E1005D|TEX2_ENST00000581812.1_5'UTR|TEX2_ENST00000583097.1_Missense_Mutation_p.E1005D			Q8IWB9	TEX2_HUMAN	testis expressed 2	1005					signal transduction|sphingolipid metabolic process	integral to membrane		p.E1012D(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAAACTCTGTCTCTGTTGCTT	0.388000													7	33					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86702201	86702201	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:86702201G>T	ENST00000441037.2	+	4	389	c.294G>T	c.(292-294)atG>atT	p.M98I	AGBL1_ENST00000421325.2_Missense_Mutation_p.M98I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	98					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.M98I(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGGAGCCATGGAACTGCTTT	0.443000													100	194					2.2287e-75	4.29362e-75	1	1	0
SLC39A6	25800	broad.mit.edu	37	18	33706321	33706321	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:33706321T>A	ENST00000269187.5	-	2	863	c.650A>T	c.(649-651)gAt>gTt	p.D217V	SLC39A6_ENST00000590986.1_Missense_Mutation_p.D217V|SLC39A6_ENST00000440549.2_Intron	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	217						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.D217V(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GCTGCTTACATCTTTGGGGAA	0.498000													18	38					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939673	47939673	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:47939673G>C	ENST00000402813.3	-	10	1187	c.1045C>G	c.(1045-1047)Cgt>Ggt	p.R349G	CNGA1_ENST00000358519.4_Missense_Mutation_p.R280G|CNGA1_ENST00000544810.1_Missense_Mutation_p.R280G|CNGA1_ENST00000514170.1_Missense_Mutation_p.R280G|CNGA1_ENST00000420489.2_Missense_Mutation_p.R280G			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	280					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	p.R280G(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCAAACATACGAGAGAACCGT	0.363000													43	141					0	0	1	0	0
PAG1	55824	broad.mit.edu	37	8	81905543	81905543	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:81905543C>A	ENST00000220597.4	-	4	631		c.e4-1			NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1						epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGCTGTGTCCTGCAAAGAGA	0.572000													10	24					0.361761	0.362749	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226822507	226822507	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:226822507C>A	ENST00000429204.1	-	8	3033	c.2706G>T	c.(2704-2706)acG>acT	p.T902T	ITPKB_ENST00000272117.3_Silent_p.T902T	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	902							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.T902T(2)|p.T428T(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGGCAGGGGCGTGGTTTTCC	0.597000													7	28					7.48243e-07	8.29623e-07	1	1	0
DPT	1805	broad.mit.edu	37	1	168670292	168670292	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:168670292T>A	ENST00000367817.3	-	3	591	c.502A>T	c.(502-504)Atc>Ttc	p.I168F		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	168	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix		p.I168F(2)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GCTCCTCGGATATAGTAATCA	0.443000													377	879					0	0	1	0	0
ACP5	54	broad.mit.edu	37	19	11687570	11687570	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:11687570A>T	ENST00000592828.1	-	5	752	c.350T>A	c.(349-351)gTc>gAc	p.V117D	ACP5_ENST00000218758.5_Missense_Mutation_p.V117D|ACP5_ENST00000433365.2_Missense_Mutation_p.V117D|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.V117D	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	117					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.V117D(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CTGGGCAGAGACATTGCCAAG	0.562000													11	60					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563130	129563130	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:129563130C>A	ENST00000422113.2	-	8	2390	c.2064G>T	c.(2062-2064)agG>agT	p.R688S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R226S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	688						integral to membrane		p.R688S(2)		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)		CAAAGATGGCCCTGTTGCTTC	0.582000													116	129					1.40678e-64	2.62074e-64	1	1	0
NAPB	63908	broad.mit.edu	37	20	23370621	23370621	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:23370621G>C	ENST00000377026.4	-	7	608	c.523C>G	c.(523-525)Ctt>Gtt	p.L175V	NAPB_ENST00000398425.3_Missense_Mutation_p.L81V|NAPB_ENST00000432543.2_Missense_Mutation_p.L136V|NAPB_ENST00000472855.1_5'UTR	NM_022080.2	NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	175					intracellular protein transport|vesicle-mediated transport	membrane		p.L175V(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					TACTGCTCAAGCTGGGCAGCA	0.398000													52	256					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033148	82033148	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:82033148C>A	ENST00000328945.5	-	3	877	c.750G>T	c.(748-750)caG>caT	p.Q250H		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	250					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	p.Q250H(2)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						TGAAGTAGGGCTGCCCAGAGG	0.567000													76	318					1.71158e-18	2.30091e-18	1	1	0
FBXL7	23194	broad.mit.edu	37	5	15936573	15936573	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:15936573A>C	ENST00000504595.1	+	4	1235	c.754A>C	c.(754-756)Acc>Ccc	p.T252P	FBXL7_ENST00000329673.7_Missense_Mutation_p.T240P|FBXL7_ENST00000510662.1_Missense_Mutation_p.T205P	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	252					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.T252P(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTCCAAAGTGACCTGCATCAG	0.577000													26	59					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248028078	248028078	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:248028078G>A	ENST00000366481.3	+	3	636	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	196						intracellular	zinc ion binding	p.E196E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGCCCAGGAGGAGCAACGGC	0.612000													5	16					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187077232	187077232	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:187077232G>T	ENST00000356371.5	+	7	1335	c.1335G>T	c.(1333-1335)ccG>ccT	p.P445P	FAM149A_ENST00000503432.1_Silent_p.P154P|FAM149A_ENST00000502970.1_Silent_p.P154P|FAM149A_ENST00000227065.4_Silent_p.P154P|FAM149A_ENST00000389354.5_Silent_p.P154P|FAM149A_ENST00000514153.1_Silent_p.P154P|FAM149A_ENST00000514829.1_3'UTR			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	445								p.P154P(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTGTTTCCCCGCGTGACTGTG	0.458000													29	91					3.73988e-18	5.00013e-18	1	1	0
ZMAT1	84460	broad.mit.edu	37	X	101152935	101152935	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:101152935C>A	ENST00000372782.3	-	5	458	c.411G>T	c.(409-411)caG>caT	p.Q137H	ZMAT1_ENST00000540921.1_Missense_Mutation_p.Q137H|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding	p.Q137H(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CATAGTGAGACTGAGCAATAA	0.413000													499	229					5.86252e-199	1.19863e-198	1	1	0
MARCO	8685	broad.mit.edu	37	2	119749443	119749443	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:119749443G>T	ENST00000541757.1	+	15	1345	c.965G>T	c.(964-966)gGa>gTa	p.G322V	MARCO_ENST00000327097.4_Missense_Mutation_p.G400V			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	400	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G400V(2)		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						GGAGACCAGGGAGTGAAAGGT	0.547000													9	9					1.41608e-15	1.82993e-15	1	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64606195	64606195	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:64606195A>G	ENST00000342711.5	-	8	1055	c.1056T>C	c.(1054-1056)taT>taC	p.Y352Y		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	352	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Y352Y(2)		central_nervous_system(1)|lung(3)	4						GCTCAGGAATATAGGGGGCCG	0.617000													3	12					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20948973	20948973	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:20948973G>C	ENST00000298925.5	+	9	1116	c.963G>C	c.(961-963)agG>agC	p.R321S	NELL1_ENST00000325319.5_Missense_Mutation_p.R236S|NELL1_ENST00000532434.1_Missense_Mutation_p.R293S|NELL1_ENST00000357134.5_Missense_Mutation_p.R293S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	293	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.R293S(2)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACCATTGCAGGAACTGCACTT	0.383000													34	74					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265001	198265001	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:198265001G>A	ENST00000335508.5	-	19	2967	c.2876C>T	c.(2875-2877)gCt>gTt	p.A959V		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	959					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.A959V(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATGACAACAGCAGTTCGAGA	0.348000			Mis		myelodysplastic syndrome								38	91					0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11795897	11795897	+	RNA	SNP	C	C	G	rs286298	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:11795897C>G	ENST00000344893.3	+	0	1896					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TGAGTGTCAGCAACATAGAAG	0.423000													3	28					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44254167	44254167	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:44254167C>A	ENST00000371505.4	-	3	502	c.380G>T	c.(379-381)aGt>aTt	p.S127I	TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	127								p.S127I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTAGTTCTCACTGTCTATCAG	0.607000													4	56					0.00024832	0.000263773	1	1	0
LY75	4065	broad.mit.edu	37	2	160741774	160741774	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:160741774G>A	ENST00000263636.4	-	6	971	c.944C>T	c.(943-945)tCc>tTc	p.S315F	LY75_ENST00000554112.1_Missense_Mutation_p.S315F|LY75_ENST00000553424.1_Missense_Mutation_p.S315F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S315F|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S315F	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.S315F(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGCACAGCTGGAGCCACCTAT	0.448000													46	126					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744734	50744734	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:50744734C>A	ENST00000300589.2	+	4	1017	c.912C>A	c.(910-912)ggC>ggA	p.G304G	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	304	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.G304G(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGGGCAGTGGCAAGAGCACGC	0.627000													9	24					1.76689e-08	1.9983e-08	1	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69100244	69100244	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:69100244G>T	ENST00000332644.5	-	5	567	c.406C>A	c.(406-408)Cat>Aat	p.H136N		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	136	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.H136N(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AACATCTGATGTAATTTAGCC	0.378000													66	232					1.00194e-58	1.84779e-58	1	1	0
CNTN5	53942	broad.mit.edu	37	11	99941253	99941253	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:99941253G>T	ENST00000524871.1	+	11	1550	c.1260G>T	c.(1258-1260)acG>acT	p.T420T	CNTN5_ENST00000279463.3_Silent_p.T420T|CNTN5_ENST00000527185.1_Silent_p.T420T|CNTN5_ENST00000418526.2_Silent_p.T346T|CNTN5_ENST00000528682.1_Silent_p.T420T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	420	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.T420T(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCAGACCCACGTATCGTTGGC	0.478000													28	92					6.07407e-21	8.52461e-21	1	1	0
CDH2	1000	broad.mit.edu	37	18	25727729	25727729	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:25727729C>A	ENST00000269141.3	-	2	503	c.80G>T	c.(79-81)gGt>gTt	p.G27V		NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	27					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G27V(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGCGATTTCACCAGAAGCCTC	0.413000													17	27					4.35082e-09	4.9435e-09	1	1	0
FBXO47	494188	broad.mit.edu	37	17	37119170	37119170	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:37119170G>A	ENST00000378079.2	-	2	308	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	37								p.P37S(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GTTGATATGGGTTGAAAGCCT	0.353000													22	79					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432892	111432892	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:111432892T>G	ENST00000393934.3	+	3	1353	c.783T>G	c.(781-783)caT>caG	p.H261Q	PLCXD2_ENST00000477665.1_Missense_Mutation_p.H261Q|PLCXD2_ENST00000472215.1_3'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	261					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.H261Q(2)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GCTCCTTCCATGTCTCCCAAG	0.562000													32	105					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121882033	121882033	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:121882033C>A	ENST00000377069.4	-	16	2546	c.2140G>T	c.(2140-2142)Ggc>Tgc	p.G714C	KDM2B_ENST00000542973.1_Missense_Mutation_p.G113C|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.G745C	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	745					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.G384C(2)|p.G745C(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCAGGGAGCCGGGCAGGTTG	0.572000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	15					7.93312e-07	8.78267e-07	1	1	0
ANO5	203859	broad.mit.edu	37	11	22248963	22248963	+	Missense_Mutation	SNP	G	G	A	rs150652958		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:22248963G>A	ENST00000324559.8	+	7	796	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	160						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.R160H(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATATTCCCCGCCCTAAGCAC	0.433000													117	190					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186114898	186114898	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:186114898G>T	ENST00000271588.4	+	93	14680	c.14451G>T	c.(14449-14451)tgG>tgT	p.W4817C	HMCN1_ENST00000367492.2_Missense_Mutation_p.W4817C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4817	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.W4817C(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGAAGTTGGGGAAGCTGGC	0.502000													40	143					1.86277e-20	2.59445e-20	1	1	0
WDR17	116966	broad.mit.edu	37	4	177069477	177069477	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:177069477G>T	ENST00000393643.2	+	13	2140	c.1888G>T	c.(1888-1890)Gat>Tat	p.D630Y	WDR17_ENST00000280190.4_Missense_Mutation_p.D654Y|WDR17_ENST00000507824.2_Missense_Mutation_p.D637Y|WDR17_ENST00000508596.1_Missense_Mutation_p.D630Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	654								p.D654Y(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCACGGTGCAGATGTATATGG	0.363000													45	141					3.10996e-30	4.78556e-30	1	1	0
GABRG2	2566	broad.mit.edu	37	5	161495054	161495054	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:161495054C>A	ENST00000356592.3	+	1	509	c.49C>A	c.(49-51)Cct>Act	p.P17T	GABRG2_ENST00000361925.4_Missense_Mutation_p.P17T|GABRG2_ENST00000414552.2_Missense_Mutation_p.P17T|GABRG2_ENST00000393933.4_De_novo_Start_InFrame	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	17					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.P17T(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTACTCGACTCCTGTATTTTC	0.463000													34	58					3.33635e-10	3.88095e-10	1	1	0
GBP1	2633	broad.mit.edu	37	1	89523826	89523826	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:89523826G>A	ENST00000370473.4	-	6	942	c.723C>T	c.(721-723)ccC>ccT	p.P241P		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	241					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.P241P(2)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGCGGTGAACGGGCCGATCAA	0.438000													71	200					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236192920	236192920	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:236192920C>A	ENST00000264187.6	-	7	1750	c.1668G>T	c.(1666-1668)gtG>gtT	p.V556V	NID1_ENST00000366595.3_Silent_p.V556V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	556	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.V556V(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAATCTGCGGCACGCGGCCCT	0.642000													6	7					0.0293803	0.0297041	1	1	0
CXADRP3	440224	broad.mit.edu	37	18	14478229	14478229	+	RNA	SNP	T	T	C	rs9956181	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:14478229T>C	ENST00000581457.1	-	0	1679					NR_024076.1																						CCCATTCGACTTAGATTAGGG	0.478000													5	54					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189929366	189929366	+	Silent	SNP	G	G	T	rs145258293		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:189929366G>T	ENST00000374866.3	-	25	1907	c.1633C>A	c.(1633-1635)Cgg>Agg	p.R545R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	545					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.R545R(2)		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)			ACAGGACCCCGTTCTCCTTGA	0.478000													10	76					2.80697e-09	3.19925e-09	1	1	0
IL27	246778	broad.mit.edu	37	16	28515060	28515060	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:28515060G>T	ENST00000356897.1	-	3	281	c.259C>A	c.(259-261)Ctc>Atc	p.L87I		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	87					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	p.L87I(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ACATCAGGGAGCTGCTCTCCC	0.647000													12	42					1.52009e-12	1.85958e-12	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113529424	113529424	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:113529424C>A	ENST00000297405.5	-	28	4839	c.4595G>T	c.(4594-4596)gGg>gTg	p.G1532V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1492V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1428V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1532V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1532	Sushi 8.					integral to membrane|plasma membrane		p.G1532V(2)|p.G1492V(2)		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						CATGGGGACCCCTGGGTCACG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			62	89					1.93348e-29	2.96278e-29	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130313158	130313158	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:130313158C>A	ENST00000358511.6	+	17	4535	c.4504C>A	c.(4504-4506)Cgt>Agt	p.R1502S	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1502S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1502	Triple-helical region.				axon guidance|cell adhesion	collagen		p.R1502S(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCTGGTGACCGTGGAGCAAA	0.463000													65	211					3.30373e-36	5.38876e-36	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112202	248112202	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:248112202G>T	ENST00000357191.3	+	1	43	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G15W(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATCTTATTGGGGCTGTTTCC	0.368000													179	364					7.74384e-107	1.54037e-106	1	1	0
ACAN	176	broad.mit.edu	37	15	89400186	89400186	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:89400186T>C	ENST00000439576.2	+	12	4744	c.4370T>C	c.(4369-4371)cTa>cCa	p.L1457P	ACAN_ENST00000561243.1_Missense_Mutation_p.L1457P|ACAN_ENST00000352105.7_Missense_Mutation_p.L1457P|ACAN_ENST00000559004.1_Missense_Mutation_p.L1457P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1457					cell adhesion		hyaluronic acid binding|sugar binding	p.L1343P(4)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGAAGTTCTAGAGACTTCT	0.517000													13	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047436	9047436	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:9047436C>A	ENST00000397910.4	-	5	34398	c.34195G>T	c.(34195-34197)Gat>Tat	p.D11399Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11401	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D7032Y(2)|p.D11399Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGGTACATCAGGTGAGACA	0.463000													328	528					7.11254e-134	1.43818e-133	1	1	0
ARAF	369	broad.mit.edu	37	X	47426307	47426307	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:47426307G>T	ENST00000377045.4	+	8	918	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	242					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.D242Y(2)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TTTCAGCACTGATGGTGAGTC	0.587000													8	18					0.000274275	0.000290502	1	1	0
SLC25A13	10165	broad.mit.edu	37	7	95818951	95818951	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:95818951C>A	ENST00000416240.2	-	8	980	c.790G>T	c.(790-792)Gtt>Ttt	p.V264F	SLC25A13_ENST00000542654.1_Missense_Mutation_p.V156F|SLC25A13_ENST00000265631.5_Missense_Mutation_p.V264F	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	264					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	p.V264F(2)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATGGGTGTAACCTGACCAAAT	0.353000													89	223					1.03625e-30	1.60465e-30	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75828759	75828759	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:75828759C>A	ENST00000322507.8	-	46	7663	c.7354_splice	c.e46+1	p.G2452_splice	COL12A1_ENST00000483888.2_Splice_Site_p.G2452_splice|COL12A1_ENST00000416123.2_Splice_Site_p.G2452_splice|COL12A1_ENST00000345356.6_Splice_Site_p.G1288_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2452	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.G2452W(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGTGCTTGCCTGACTGCTGG	0.423000													62	221					8.3131e-28	1.25552e-27	1	1	0
SLC22A6	9356	broad.mit.edu	37	11	62751943	62751943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:62751943G>A	ENST00000377871.3	-	1	486	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	SLC22A6_ENST00000360421.4_Nonsense_Mutation_p.Q74*|SLC22A6_ENST00000458333.2_Nonsense_Mutation_p.Q74*|SLC22A6_ENST00000421062.2_Nonsense_Mutation_p.Q74*	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	74					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.Q74*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GACTCAGGCTGCCCCTGCCTG	0.677000													32	44					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380871	56380871	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:56380871T>A	ENST00000526538.1	-	1	107	c.108A>T	c.(106-108)ctA>ctT	p.L36L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L36L(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CCAGTGTGATTAGGTAGATCG	0.498000													146	409					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43411214	43411214	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:43411214G>T	ENST00000039989.4	+	3	276	c.262G>T	c.(262-264)Gct>Tct	p.A88S	TTC17_ENST00000299240.6_Missense_Mutation_p.A88S	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	88							binding	p.A88S(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ACAATTAGTTGCTCAAAAAAT	0.383000													37	71					2.75727e-19	3.77582e-19	1	1	0
OARD1	221443	broad.mit.edu	37	6	41036604	41036604	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:41036604C>A	ENST00000479950.1	-	5	645	c.332G>T	c.(331-333)gGa>gTa	p.G111V	OARD1_ENST00000486443.1_Missense_Mutation_p.G72V|OARD1_ENST00000463088.1_Missense_Mutation_p.G111V|OARD1_ENST00000482515.1_Intron|OARD1_ENST00000373154.2_Intron|OARD1_ENST00000464633.1_Intron|OARD1_ENST00000468811.1_Missense_Mutation_p.G111V|OARD1_ENST00000244558.9_Intron|OARD1_ENST00000424266.2_Missense_Mutation_p.G111V|OARD1_ENST00000480585.1_Intron					O-acyl-ADP-ribose deacylase 1									p.G111V(2)|p.G111E(1)									GTCAGTGACTCCATTCTTCAG	0.408000													14	19					5.01169e-05	5.3702e-05	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113988231	113988231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:113988231C>A	ENST00000297405.5	-	7	1421	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E353*|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E393*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	393						integral to membrane|plasma membrane		p.E393*(2)|p.E353*(2)		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						ACTCGCTGTTCCTCGGAAAGT	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	175					1.22674e-20	1.7151e-20	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173525608	173525608	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:173525608G>T	ENST00000457714.1	+	4	1061	c.632G>T	c.(631-633)cGa>cTa	p.R211L	NLGN1_ENST00000545397.1_Missense_Mutation_p.R211L|NLGN1_ENST00000361589.4_Missense_Mutation_p.R211L|NLGN1_ENST00000401917.3_Missense_Mutation_p.R251L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	228					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.R211L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTCAACTATCGACTTGGAGTA	0.383000													48	137					6.3237e-29	9.66999e-29	1	1	0
GLYATL2	219970	broad.mit.edu	37	11	58604550	58604550	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:58604550T>C	ENST00000287275.1	-	5	804	c.414A>G	c.(412-414)ccA>ccG	p.P138P	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.P138P	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	138						mitochondrion	glycine N-acyltransferase activity	p.P138P(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGTGTTTCTTTGGTAATTCCG	0.378000													87	229					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104632	184104632	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:184104632G>T	ENST00000204604.1	+	17	2442		c.e17-1		CHRD_ENST00000348986.3_Splice_Site|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Splice_Site|CHRD_ENST00000545352.1_Splice_Site	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.?(4)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCTCTGCAGAGACGAACGG	0.652000													16	33					8.60227e-14	1.08118e-13	1	1	0
AMER2	219287	broad.mit.edu	37	13	25744474	25744474	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:25744474C>A	ENST00000357816.2	-	3	1402	c.927G>T	c.(925-927)ccG>ccT	p.P309P	AMER2_ENST00000381853.3_Silent_p.P309P|AMER2_ENST00000515384.1_Silent_p.P428P					APC membrane recruitment protein 2									p.P428P(2)|p.P309P(2)									CCACCTCGTCCGGGCTGGCCA	0.652000													7	10					0.00198382	0.0020713	1	1	0
INTS5	80789	broad.mit.edu	37	11	62415695	62415695	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:62415695C>A	ENST00000330574.2	-	2	1909	c.1857G>T	c.(1855-1857)gaG>gaT	p.E619D		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	619					snRNA processing	integral to membrane|integrator complex	protein binding	p.E619D(2)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CAGCTACTTCCTCCTCAGGAT	0.617000													13	27					9.31168e-06	1.01256e-05	1	1	0
EPAS1	2034	broad.mit.edu	37	2	46611777	46611777	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:46611777G>T	ENST00000263734.3	+	16	3101	c.2591G>T	c.(2590-2592)aGa>aTa	p.R864I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	864	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R864I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACCTCCTCAGAGCCCTGGAC	0.607000													8	25					5.68852e-11	6.76722e-11	1	1	0
SLC47A1	55244	broad.mit.edu	37	17	19445753	19445753	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:19445753G>T	ENST00000270570.4	+	2	269	c.183G>T	c.(181-183)gtG>gtT	p.V61V	SLC47A1_ENST00000575023.1_Silent_p.V61V|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000457293.1_Silent_p.V61V|SLC47A1_ENST00000542886.1_Silent_p.V61V|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000436810.2_Silent_p.V61V|SLC47A1_ENST00000395585.1_Silent_p.V61V	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	61						integral to membrane|plasma membrane	drug:hydrogen antiporter activity	p.V61V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TAAGCTCCGTGTTCTGTGGCC	0.557000													16	35					5.03518e-11	5.99972e-11	1	1	0
CHRNG	1146	broad.mit.edu	37	2	233406159	233406159	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:233406159G>A	ENST00000389494.3	+	5	447	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	142					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	p.P142P(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		ACTGGCTGCCGCCTGCCATCT	0.577000													26	109					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100672318	100672318	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:100672318G>T	ENST00000268070.4	-	12	1720	c.1615C>A	c.(1615-1617)Ccg>Acg	p.P539T		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	539	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P539T(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACATGCTCCGGGATGGGCGTC	0.672000											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	15					2.27111e-07	2.53343e-07	1	1	0
PCOLCE2	26577	broad.mit.edu	37	3	142537297	142537297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:142537297G>T	ENST00000295992.3	-	9	1434	c.1128C>A	c.(1126-1128)taC>taA	p.Y376*	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.H297N	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	376	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.Y376*(2)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCATAATAATGTAATTTAGAC	0.363000													56	221					1.15062e-32	1.82804e-32	1	1	0
CELF4	56853	broad.mit.edu	37	18	34854816	34854816	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:34854816G>C	ENST00000420428.2	-	5	1004	c.609C>G	c.(607-609)gcC>gcG	p.A203A	CELF4_ENST00000591282.1_Silent_p.A203A|CELF4_ENST00000601019.1_Silent_p.A202A|CELF4_ENST00000361795.5_Silent_p.A202A|CELF4_ENST00000603232.1_Silent_p.A203A|CELF4_ENST00000412753.1_Silent_p.A203A|CELF4_ENST00000334919.5_Silent_p.A193A|RP11-797E24.3_ENST00000588766.1_RNA|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000591287.1_Silent_p.A202A|CELF4_ENST00000588597.1_Silent_p.A192A	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	203	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.A203A(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCTGCGCCTCGGCGTGGGAGG	0.736000													3	7					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3428348	3428348	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:3428348C>T	ENST00000324266.5	+	5	1526	c.1331C>T	c.(1330-1332)gCt>gTt	p.A444V	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A444V	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	444							binding	p.A444V(2)									TTCCAGAATGCTGAGATGGAA	0.448000													22	40					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646630	57646630	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:57646630C>T	ENST00000269834.1	-	5	1460	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G359R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTCTCTTCCCAGTGTGAATT	0.393000													75	118					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596702	142596702	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:142596702T>C	ENST00000370503.2	-	2	451	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	123								p.Q123R(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCATCCTCCTGTGAGGATCC	0.453000													1206	1888					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63987027	63987027	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:63987027G>C	ENST00000443617.2	-	28	5275	c.5188C>G	c.(5188-5190)Caa>Gaa	p.Q1730E	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1730					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.Q1730E(4)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACAACTGTTGATAAATTTTA	0.378000													86	108					0	0	1	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14248435	14248435	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:14248435G>T	ENST00000360954.2	+	2	1081	c.645G>T	c.(643-645)tcG>tcT	p.S215S		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	215					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	p.S215S(2)		large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGCGCATCTCGGCCATGTCCA	0.642000													28	34					1.07637e-12	1.32559e-12	1	1	0
KLK15	55554	broad.mit.edu	37	19	51330233	51330233	+	Missense_Mutation	SNP	G	G	T	rs7247190		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:51330233G>T	ENST00000326856.4	-	4	508	c.379C>A	c.(379-381)Ccc>Acc	p.P127T	KLK15_ENST00000596931.1_Missense_Mutation_p.P127T|KLK15_ENST00000598239.1_Missense_Mutation_p.P128T|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.P128T	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	128	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P128T(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAACGCGTGGGTAGCACCGCG	0.711000													19	41					6.33239e-15	8.09751e-15	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89480412	89480412	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:89480412G>T	ENST00000336596.2	+	13	2474	c.2249G>T	c.(2248-2250)cGg>cTg	p.R750L	EPHA3_ENST00000494014.1_Missense_Mutation_p.R750L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	750	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding	p.R750L(2)|p.R750Q(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTCGCTGCTCGGAACATCTTG	0.488000										TSP Lung(6;0.00050)			38	61					2.52449e-32	3.98489e-32	1	1	0
TINAG	27283	broad.mit.edu	37	6	54214562	54214562	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:54214562C>A	ENST00000259782.4	+	7	1044	c.948C>A	c.(946-948)acC>acA	p.T316T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	316					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.T316T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AAAATGCTACCAACAATGGAT	0.443000													167	414					2.57245e-67	4.85392e-67	1	1	0
CDH7	1005	broad.mit.edu	37	18	63511299	63511299	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:63511299G>C	ENST00000536984.2	+	7	1927	c.1233G>C	c.(1231-1233)gtG>gtC	p.V411V	CDH7_ENST00000397968.2_Silent_p.V411V|CDH7_ENST00000323011.3_Silent_p.V411V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	411	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V411V(4)		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)				ATAGCCCTGTGAGGTAAAAAC	0.418000													79	142					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113504881	113504881	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:113504881G>T	ENST00000297405.5	-	31	5359	c.5115C>A	c.(5113-5115)ggC>ggA	p.G1705G	CSMD3_ENST00000343508.3_Silent_p.G1665G|CSMD3_ENST00000455883.2_Silent_p.G1601G|CSMD3_ENST00000352409.3_Silent_p.G1705G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1705	Sushi 9.					integral to membrane|plasma membrane		p.G1705G(3)|p.G1665G(2)		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						TCATTATATTGCCTGGATCAA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			157	252					3.59702e-68	6.80468e-68	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22154978	22154978	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:22154978G>T	ENST00000397126.4	-	4	3006	c.2858C>A	c.(2857-2859)gCc>gAc	p.A953D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.A853D(4)|p.A953D(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGACTTATAGGCTTTGCCACA	0.368000													11	21					9.70103e-10	1.12489e-09	1	1	0
KLHL6	89857	broad.mit.edu	37	3	183225911	183225911	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:183225911C>A	ENST00000341319.3	-	3	880	c.845G>T	c.(844-846)aGg>aTg	p.R282M		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	282								p.R282M(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGGGCACTGCCTGATGAGAGG	0.537000													79	212					2.61628e-32	4.12091e-32	1	1	0
NOD2	64127	broad.mit.edu	37	16	50745614	50745614	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:50745614C>A	ENST00000300589.2	+	4	1897	c.1792C>A	c.(1792-1794)Ccc>Acc	p.P598T		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	598	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.P598T(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAGTACGGCGCCCCTGGAATT	0.567000													8	30					0.00307968	0.00321092	1	1	0
PTGFR	5737	broad.mit.edu	37	1	78958693	78958693	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:78958693G>T	ENST00000370756.3	+	2	502	c.265G>T	c.(265-267)Gta>Tta	p.V89L	PTGFR_ENST00000370757.3_Missense_Mutation_p.V89L|PTGFR_ENST00000370758.1_Missense_Mutation_p.V89L	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	89					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.V89L(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGCCATAGCAGTATTTGTATA	0.428000													10	282					0.000673444	0.000710213	1	1	0
GRM8	2918	broad.mit.edu	37	7	126173167	126173167	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:126173167T>C	ENST00000339582.2	-	9	3077	c.2269A>G	c.(2269-2271)Atc>Gtc	p.I757V	GRM8_ENST00000358373.3_Missense_Mutation_p.I757V|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.I757V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	757					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.I757V(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)	ATCAAGAGGATACTGTATCCA	0.443000										HNSCC(24;0.065)			37	105					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42199282	42199282	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:42199282G>A	ENST00000373100.1	+	8	846	c.386G>A	c.(385-387)cGc>cAc	p.R129H	SGK2_ENST00000341458.4_Missense_Mutation_p.R189H|SGK2_ENST00000373092.3_Missense_Mutation_p.R129H|SGK2_ENST00000373077.1_Missense_Mutation_p.R128H|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000426287.1_Missense_Mutation_p.R155H|SGK2_ENST00000423407.3_Missense_Mutation_p.R129H			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	189	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	p.R189H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCGGGAGCGCCGGTTCCTG	0.637000													11	39					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81585042	81585042	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:81585042G>T	ENST00000394660.2	+	12	1926	c.1566G>T	c.(1564-1566)ggG>ggT	p.G522G	IL16_ENST00000302987.4_Silent_p.G522G	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	522					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.G522G(4)		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						GGTCCCCAGGGGGAAGTCCTG	0.607000													40	56					4.10826e-27	6.11656e-27	1	1	0
ANKRD32	84250	broad.mit.edu	37	5	94014519	94014519	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:94014519A>T	ENST00000265140.5	+	15	2253	c.1834A>T	c.(1834-1836)Aaa>Taa	p.K612*		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	612								p.K612*(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TTAGGTCTTCAAACATGAACT	0.299000													12	53					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107834586	107834586	+	Missense_Mutation	SNP	A	A	T	rs146218985	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:107834586A>T	ENST00000379028.3	-	17	2130	c.1660T>A	c.(1660-1662)Tat>Aat	p.Y554N	NRCAM_ENST00000379022.4_Missense_Mutation_p.Y554N|NRCAM_ENST00000351718.4_Missense_Mutation_p.Y548N|NRCAM_ENST00000379024.4_Missense_Mutation_p.Y535N|NRCAM_ENST00000413765.2_Missense_Mutation_p.Y535N|NRCAM_ENST00000425651.2_Missense_Mutation_p.Y554N			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	554	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.Y548N(2)|p.Y554N(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAACTGCATATTCGGGCTGT	0.413000													49	310					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864655	131864655	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:131864655G>T	ENST00000359827.3	-	20	4627	c.3665C>A	c.(3664-3666)tCc>tAc	p.S1222Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1222Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1222	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane		p.S1222Y(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCCCCGGGGAGTACTCCAT	0.647000													7	11					0.000157383	0.000167419	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7559189	7559189	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:7559189T>C	ENST00000313599.3	-	5	1083	c.1026A>G	c.(1024-1026)agA>agG	p.R342R	CD163L1_ENST00000396630.1_Silent_p.R342R|CD163L1_ENST00000416109.2_Silent_p.R352R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	342	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R342R(2)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCCGGAATGTCTGCAGTCCC	0.433000													46	126					0	0	1	0	0
LRWD1	222229	broad.mit.edu	37	7	102106703	102106703	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:102106703G>A	ENST00000292616.5	+	3	570	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	140					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	p.E140K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCTGAATCGGGAGCTGACCAG	0.512000													6	38					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531202	43531202	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:43531202A>T	ENST00000430334.3	-	7	2149	c.2016T>A	c.(2014-2016)ttT>ttA	p.F672L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.F583L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	672					intracellular signal transduction	cytoplasm	metal ion binding	p.F672L(2)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ACGACCAGTCAAACTGTGTGC	0.612000													36	83					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101253240	101253240	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:101253240A>G	ENST00000388798.2	+	19	2962	c.2771A>G	c.(2770-2772)tAt>tGt	p.Y924C	SPAG1_ENST00000251809.3_Missense_Mutation_p.Y924C	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	924					single fertilization	cytoplasm	GTP binding|hydrolase activity	p.Y924C(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAAAGGCAGTATGAGCTTTAA	0.368000													181	220					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48584628	48584628	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:48584628A>T	ENST00000537810.1	-	20	2476	c.1872T>A	c.(1870-1872)cgT>cgA	p.R624R	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Silent_p.R330R|FRYL_ENST00000507711.1_Silent_p.R624R|FRYL_ENST00000358350.4_Silent_p.R624R|FRYL_ENST00000503238.1_Silent_p.R624R			O94915	FRYL_HUMAN	FRY-like	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R624R(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGTCACTTCACGAACAATAA	0.393000													25	109					0	0	1	0	0
RNF26	79102	broad.mit.edu	37	11	119207086	119207086	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:119207086C>T	ENST00000311413.4	+	1	1850	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	418							zinc ion binding	p.C418C(2)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		ACCGCAATTGCCCGCTCTGCC	0.642000													7	20					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75893229	75893229	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:75893229C>A	ENST00000322507.8	-	10	1737	c.1428G>T	c.(1426-1428)agG>agT	p.R476S	COL12A1_ENST00000483888.2_Missense_Mutation_p.R476S|COL12A1_ENST00000416123.2_Missense_Mutation_p.R476S|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	476	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.R476S(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAATCTGGACCCTATTTGGTG	0.353000													41	93					5.71845e-15	7.32521e-15	1	1	0
ROBO4	54538	broad.mit.edu	37	11	124754957	124754957	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:124754957C>T	ENST00000306534.3	-	17	3466	c.2981G>A	c.(2980-2982)tGt>tAt	p.C994Y	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.C849Y	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	994					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.C994Y(2)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGCATACGACAGTGGAGCTG	0.587000													28	63					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24385442	24385442	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:24385442G>A	ENST00000330966.7	-	36	4193	c.4031C>T	c.(4030-4032)cCg>cTg	p.P1344L	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.P1341L|MYOM3_ENST00000338909.5_Missense_Mutation_p.P234L			Q5VTT5	MYOM3_HUMAN	myomesin 3	1341	Ig-like C2-type 4.			A -> T (in Ref. 5; CAH10376).				p.P1341L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCACATCCGGCAGACCTCT	0.537000													3	16					0	0	1	0	0
GPR135	64582	broad.mit.edu	37	14	59930621	59930621	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:59930621T>A	ENST00000395116.1	-	1	1439	c.1324A>T	c.(1324-1326)Aac>Tac	p.N442Y		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	442						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N442Y(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GACATCCTGTTGCAGGCCCCC	0.632000													2	5					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53342725	53342725	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:53342725A>G	ENST00000566029.1	+	34	7342	c.7133A>G	c.(7132-7134)gAg>gGg	p.E2378G	CHD9_ENST00000447540.1_Missense_Mutation_p.E2379G|CHD9_ENST00000398510.3_Missense_Mutation_p.E2394G|CHD9_ENST00000564845.1_Missense_Mutation_p.E2378G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2394	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.E2395G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGTGCATCAGAGACCAGCCTC	0.438000													22	102					0	0	1	0	0
TRGC1	6966	broad.mit.edu	37	7	38305252	38305252	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:38305252G>T	ENST00000443402.2	-	0	27					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					AGTGGGCTTGGGGGAAACATC	0.378000													64	328					6.11987e-43	1.06194e-42	1	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204237428	204237428	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:204237428C>T	ENST00000272203.3	-	4	431	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A39T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	39								p.A39T(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCTTTGCGGGCTGTGCGAGTT	0.602000													41	178					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140972591	140972591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:140972591G>T	ENST00000277549.5	+	36	5126	c.2557G>T	c.(2557-2559)Gag>Tag	p.E853*	CACNA1B_ENST00000371372.1_Nonsense_Mutation_p.E1659*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1659*|CACNA1B_ENST00000371365.2_Nonsense_Mutation_p.E23*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1660*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1658*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1657*			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1659					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.E1659*(2)|p.E23*(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCCTGGCACGAGATCATGCT	0.607000													10	35					6.42651e-13	7.92783e-13	1	1	0
OR5D16	390144	broad.mit.edu	37	11	55607101	55607101	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:55607101T>A	ENST00000378396.1	+	1	874	c.874T>A	c.(874-876)Tac>Aac	p.Y292N		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y292N(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCCCCTGATCTACAGTCTGAG	0.378000													55	181					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158583631	158583631	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:158583631C>A	ENST00000368148.3	-	50	7049	c.6869G>T	c.(6868-6870)cGc>cTc	p.R2290L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2287L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2290	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R2290L(2)		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)					GTGAGTCAGGCGCCCTGTCAA	0.408000													9	152					1.33987e-11	1.60697e-11	1	1	0
BTRC	8945	broad.mit.edu	37	10	103291028	103291028	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:103291028G>T	ENST00000370187.3	+	7	896	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	BTRC_ENST00000408038.2_Missense_Mutation_p.G224W|BTRC_ENST00000393441.4_Missense_Mutation_p.G219W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	260					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		p.G260W(3)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ACCTCCTGACGGGAATGCTCC	0.313000													47	62					3.40343e-31	5.30385e-31	1	1	0
AGO1	26523	broad.mit.edu	37	1	36381063	36381063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:36381063C>T	ENST00000373204.4	+	15	2161	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	AGO1_ENST00000373206.1_Nonsense_Mutation_p.Q575*	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1									p.Q650*(2)									GCTCCTCATCCAATTCTACAA	0.572000													30	100					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112235926	112235926	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:112235926G>T	ENST00000261733.2	+	10	1189	c.1128G>T	c.(1126-1128)acG>acT	p.T376T	ALDH2_ENST00000416293.3_Silent_p.T329T	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	376					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.T376T(4)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACATCAACACGGGGAAGCAAG	0.542000			T	HMGA2	leiomyoma								14	25					6.72482e-11	7.97419e-11	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53104085	53104085	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:53104085G>T	ENST00000408890.4	+	1	737	c.721G>T	c.(721-723)Ggc>Tgc	p.G241C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	241								p.G241C(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCGAGCCTCGGCCCCTGGAG	0.647000													4	22					2.0095e-06	2.21135e-06	1	1	0
FRMPD4	9758	broad.mit.edu	37	X	12734443	12734443	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:12734443A>G	ENST00000380682.1	+	15	2371	c.1865A>G	c.(1864-1866)tAc>tGc	p.Y622C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	622					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.Y612C(2)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGGCAGACTACAGAAGTCTA	0.512000													44	52					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13912364	13912364	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:13912364T>A	ENST00000284951.5	-	3	242	c.168A>T	c.(166-168)acA>acT	p.T56T	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.T56T			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	56						integral to membrane	binding	p.T56T(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CATTACTAGATGTTCTTTGTT	0.279000													33	78					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167327216	167327216	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:167327216C>A	ENST00000409855.1	-	6	699	c.572_splice	c.e6-1	p.E191_splice		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	191					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E191D(4)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTATAATAACCCTGTGGAATT	0.279000													9	27					2.68362e-12	3.26122e-12	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158644393	158644393	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:158644393A>T	ENST00000368148.3	-	9	1365	c.1185T>A	c.(1183-1185)gcT>gcA	p.A395A	SPTA1_ENST00000368147.3_Silent_p.A395A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	395				A -> G (in Ref. 3; AAA60575).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A395A(2)		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)					GCAGCTCATCAGCATTGATCG	0.507000													306	509					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604708	71604708	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:71604708T>A	ENST00000355962.4	-	8	919	c.786A>T	c.(784-786)ccA>ccT	p.P262P	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	262					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.P262P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GGGTGGCCAGTGGTTCATATT	0.552000													22	102					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51879644	51879644	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:51879644G>C	ENST00000453097.2	+	17	2463	c.2246G>C	c.(2245-2247)gGa>gCa	p.G749A	SLC4A8_ENST00000358657.3_Missense_Mutation_p.G776A	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	749					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.G749A(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTTTTGATTGGAGTCCCATCA	0.418000													129	169					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253520	65253520	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:65253520C>A	ENST00000389722.3	-	15	3216	c.3163G>T	c.(3163-3165)Gac>Tac	p.D1055Y	SPTB_ENST00000542895.1_Missense_Mutation_p.D1055Y|SPTB_ENST00000389720.3_Missense_Mutation_p.D1055Y|SPTB_ENST00000389721.5_Missense_Mutation_p.D1055Y|SPTB_ENST00000556626.1_Missense_Mutation_p.D1055Y	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1055					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.D1055Y(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCAGCAAGTCCTCCTGGCCC	0.607000													7	31					0.00448238	0.00465356	1	1	0
OR10S1	219873	broad.mit.edu	37	11	123848164	123848164	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:123848164G>A	ENST00000531945.1	-	1	324	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L79F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGAAGGAGAGGTGCCCCAGG	0.557000													71	208					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134278166	134278166	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:134278166T>C	ENST00000337090.3	+	14	2021	c.1848T>C	c.(1846-1848)tcT>tcC	p.S616S	CEP63_ENST00000606977.1_Silent_p.S616S|CEP63_ENST00000513612.2_Silent_p.S616S|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000354446.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	616					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.S616S(2)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTCCTACTCTCTATGTAAAA	0.438000													162	384					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127730885	127730885	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:127730885C>A	ENST00000508053.1	-	15	2135	c.1161G>T	c.(1159-1161)caG>caT	p.Q387H	FBN2_ENST00000508989.1_Missense_Mutation_p.Q354H|FBN2_ENST00000262464.4_Missense_Mutation_p.Q387H			P35556	FBN2_HUMAN	fibrillin 2	387	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.Q387H(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGCAGCACTGCATTTTCG	0.552000													39	73					6.2361e-21	8.73531e-21	1	1	0
FAM13A	10144	broad.mit.edu	37	4	89772323	89772323	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:89772323G>A	ENST00000264344.5	-	7	1062	c.855C>T	c.(853-855)tcC>tcT	p.S285S	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	285					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S285S(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCTCACTCCTGGATTTTGGGA	0.408000													62	196					0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229568343	229568343	+	Silent	SNP	G	G	T	rs121909526		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:229568343G>T	ENST00000366684.3	-	3	516	c.414C>A	c.(412-414)atC>atA	p.I138I	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	138			I -> M (in NEM3; autosomal recessive).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	p.I138I(3)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GCACGGCCTGGATGGCCACGT	0.706000													33	70					1.00001e-27	1.50411e-27	1	1	0
MANSC1	54682	broad.mit.edu	37	12	12491436	12491436	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:12491436G>A	ENST00000535902.1	-	3	845	c.282C>T	c.(280-282)aaC>aaT	p.N94N	MANSC1_ENST00000545735.1_Silent_p.N13N|MANSC1_ENST00000396349.3_Silent_p.N60N			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	94	MANSC.					integral to membrane		p.N94N(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATAGGTAGCAGTTGGGTTGTC	0.393000													48	101					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101704717	101704717	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:101704717C>A	ENST00000305352.6	+	2	552	c.177C>A	c.(175-177)atC>atA	p.I59I	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	59					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.I59I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTGCTTTATCATCCTGGAGA	0.458000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	262					1.52378e-38	2.52472e-38	1	1	0
DGKI	9162	broad.mit.edu	37	7	137151659	137151659	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:137151659C>T	ENST00000453654.1	-	26	2166	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	DGKI_ENST00000288490.5_Splice_Site|DGKI_ENST00000424189.2_Missense_Mutation_p.D846N|DGKI_ENST00000446122.1_Splice_Site			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	833					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	p.?(2)		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						TGAGATCTGTCTATTCGATAA	0.358000													33	105					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763833	77763833	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:77763833A>T	ENST00000521891.2	+	10	5124	c.4676A>T	c.(4675-4677)cAc>cTc	p.H1559L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1514L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1514L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1533L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1514						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H1559L(2)		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)			CTCTTGGTCCACTATAATTCA	0.408000										HNSCC(33;0.089)			71	178					0	0	1	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67243129	67243129	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:67243129C>A	ENST00000282670.2	+	5	660	c.532C>A	c.(532-534)Ctt>Att	p.L178I		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	178								p.L178I(2)|p.L178F(1)		large_intestine(2)|lung(10)|skin(1)	13						TGCAGTTTACCTTGAGTGATT	0.363000													61	158					1.7104e-27	2.56735e-27	1	1	0
DOCK7	85440	broad.mit.edu	37	1	63084481	63084481	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:63084481C>G	ENST00000251157.5	-	14	1611	c.1578G>C	c.(1576-1578)ccG>ccC	p.P526P	DOCK7_ENST00000340370.5_Silent_p.P526P|DOCK7_ENST00000404627.2_Silent_p.P526P	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	526					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.P526P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAAGCAGCTCCGGAGTTAGGC	0.388000													88	279					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964605	119964605	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:119964605G>C	ENST00000543831.1	+	4	730	c.481G>C	c.(481-483)Gct>Cct	p.A161P	HSD3B2_ENST00000369416.3_Missense_Mutation_p.A161P	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	161					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.A161P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CAAAAAGCTTGCTGAGAAGGC	0.502000													28	101					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94134234	94134234	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:94134234G>C	ENST00000243673.2	-	1	351	c.180C>G	c.(178-180)cgC>cgG	p.R60R	GPR83_ENST00000539203.2_Silent_p.R60R	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	60						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R60R(2)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGCGCCGTAGCGCCTCCTGC	0.582000													31	98					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33872331	33872331	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:33872331C>G	ENST00000389232.4	+	13	1493	c.1423C>G	c.(1423-1425)Ctt>Gtt	p.L475V	RYR3_ENST00000415757.3_Missense_Mutation_p.L475V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	475					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L475V(3)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGACAAAATCTTTTCAAGGA	0.443000													17	26					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428122	135428122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:135428122G>T	ENST00000394143.1	+	6	2548	c.2257G>T	c.(2257-2259)Gaa>Taa	p.E753*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.E690*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E753*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E548*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E548*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	753					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E753*(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAATATGCCTGAATTTAAACT	0.373000													429	190					5.78545e-233	1.19284e-232	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228886442	228886442	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:228886442C>A	ENST00000392056.3	-	6	728	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D228Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	228						cytoplasm	protein binding	p.D228Y(4)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTAGATTCATCCACCTCGCTT	0.443000													27	79					1.08312e-15	1.40461e-15	1	1	0
TENM2	57451	broad.mit.edu	37	5	167645208	167645208	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:167645208C>T	ENST00000519204.1	+	22	4067	c.3949C>T	c.(3949-3951)Ctt>Ttt	p.L1317F	TENM2_ENST00000520394.1_Missense_Mutation_p.L1199F|TENM2_ENST00000545108.1_Missense_Mutation_p.L1437F|TENM2_ENST00000518659.1_Missense_Mutation_p.L1438F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1262F					teneurin transmembrane protein 2									p.L1317F(2)|p.L1438F(2)|p.L1271F(2)									CAATGTCATCCTTCGAATCAC	0.498000													364	540					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62073809	62073809	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:62073809C>A	ENST00000354587.3	-	5	942	c.766G>T	c.(766-768)Ggg>Tgg	p.G256W	KCNQ2_ENST00000344425.5_Missense_Mutation_p.G256W|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G256W|KCNQ2_ENST00000344462.3_Missense_Mutation_p.G256W|KCNQ2_ENST00000370221.1_Missense_Mutation_p.G256W|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G256W|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G256W|KCNQ2_ENST00000370222.3_Missense_Mutation_p.G256W|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G256W|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G256W|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G256W|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G256W			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	256					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G256W(4)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TCGTTCTCCCCCTTCTCTGCC	0.572000													44	143					9.57592e-29	1.46127e-28	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33205041	33205041	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:33205041G>T	ENST00000280979.4	+	11	3495	c.3325G>T	c.(3325-3327)Gaa>Taa	p.E1109*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.E1109*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1109					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.E1109*(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTGAGACAAGAAAAGGAAGG	0.373000													75	228					5.78178e-49	1.02756e-48	1	1	0
DDX53	168400	broad.mit.edu	37	X	23018528	23018528	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:23018528C>T	ENST00000327968.5	+	1	442	c.354C>T	c.(352-354)agC>agT	p.S118S	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	118						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.S118S(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AACAAGAAAGCTACAACTCAG	0.403000													43	52					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38471793	38471793	+	Missense_Mutation	SNP	C	C	A	rs145380938		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:38471793C>A	ENST00000356264.2	-	13	1369	c.1154G>T	c.(1153-1155)tGg>tTg	p.W385L	AMPH_ENST00000428293.2_Missense_Mutation_p.W385L|AMPH_ENST00000325590.5_Missense_Mutation_p.W385L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	385					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.W385L(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCTTACCGTCCATAGGTCCCA	0.323000													58	154					5.71386e-39	9.51015e-39	1	1	0
TMEM150C	441027	broad.mit.edu	37	4	83417293	83417293	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:83417293C>T	ENST00000449862.2	-	6	609	c.291G>A	c.(289-291)ccG>ccA	p.P97P	RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000515780.1_Silent_p.P97P|TMEM150C_ENST00000508701.1_Silent_p.P97P	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	97						integral to membrane		p.P97P(2)		ovary(1)	1						TATTCAGCCACGGGTTTAAAA	0.423000													40	109					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82645123	82645123	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:82645123G>T	ENST00000533655.1	+	6	2955	c.2743G>T	c.(2743-2745)Ggt>Tgt	p.G915C	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.G915C|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.G614C	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	915					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.G915C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AACCAATAAAGGTTTAATTAA	0.343000													13	64					6.72482e-11	7.97419e-11	1	1	0
OR10G8	219869	broad.mit.edu	37	11	123900722	123900722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:123900722C>A	ENST00000431524.1	+	1	426	c.393C>A	c.(391-393)taC>taA	p.Y131*		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y131*(2)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CGCTCAGGTACACCAGCATGA	0.542000													214	705					4.32429e-90	8.55533e-90	1	1	0
OR13C8	138802	broad.mit.edu	37	9	107332060	107332060	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:107332060G>T	ENST00000335040.1	+	1	612	c.612G>T	c.(610-612)ctG>ctT	p.L204L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L204L(3)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGTCGAATCTGATTGTTCTGG	0.353000													69	242					1.52223e-32	2.40801e-32	1	1	0
SLC30A8	169026	broad.mit.edu	37	8	118174010	118174010	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:118174010C>A	ENST00000427715.2	+	8	893	c.459C>A	c.(457-459)ggC>ggA	p.G153G	SLC30A8_ENST00000521243.1_Silent_p.G153G|SLC30A8_ENST00000519688.1_Silent_p.G153G|SLC30A8_ENST00000456015.2_Silent_p.G202G	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	202					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.G202G(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GATGCCTTGGCCACAATCACA	0.448000													51	223					5.22555e-25	7.6558e-25	1	1	0
DDI2	84301	broad.mit.edu	37	1	15983175	15983175	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:15983175G>T	ENST00000480945.1	+	9	1417		c.e9+1			NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)						proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CCCAGACCAGGTATTTATAGA	0.468000													63	197					3.09758e-43	5.40054e-43	1	1	0
THOC2	57187	broad.mit.edu	37	X	122755273	122755273	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:122755273G>A	ENST00000245838.8	-	31	3982	c.3951C>T	c.(3949-3951)acC>acT	p.T1317T	THOC2_ENST00000355725.4_Silent_p.T1317T|THOC2_ENST00000491737.1_Silent_p.T1202T	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1317	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.T1317T(2)|p.T1238T(2)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTCTTTCCTTGGTCTCTCTTG	0.413000													259	187					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511222	56511222	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:56511222G>T	ENST00000302957.3	-	1	65	c.66C>A	c.(64-66)acC>acA	p.T22T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T22T(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGTCAGGATGGTGCAATTTC	0.423000													128	334					1.79159e-75	3.4606e-75	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129470172	129470172	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:129470172C>A	ENST00000421865.2	+	7	1007	c.958C>A	c.(958-960)Cag>Aag	p.Q320K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	320	Laminin EGF-like 1.				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	p.Q320K(2)		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)		TAGCTGTGATCAGTGCTGTCC	0.408000													60	211					1.12612e-26	1.66984e-26	1	1	0
STT3A	3703	broad.mit.edu	37	11	125482978	125482978	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:125482978C>G	ENST00000392708.4	+	13	1619	c.1460C>G	c.(1459-1461)tCc>tGc	p.S487C	STT3A_ENST00000531491.1_Missense_Mutation_p.S395C|STT3A_ENST00000529196.1_Missense_Mutation_p.S487C	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	487					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	p.S487C(2)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCTTCTCCGTCCATTGTACTA	0.473000													124	342					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90138748	90138748	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:90138748G>T	ENST00000268138.7	+	7	1911	c.1806G>T	c.(1804-1806)gtG>gtT	p.V602V	TICRR_ENST00000560985.1_Silent_p.V601V					TOPBP1-interacting checkpoint and replication regulator									p.V602V(2)									GTCCGGATGTGGCTGGGGAGA	0.443000													69	127					2.96794e-49	5.30041e-49	1	1	0
SEMA6D	80031	broad.mit.edu	37	15	48057248	48057248	+	Missense_Mutation	SNP	T	T	G	rs147987261		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:48057248T>G	ENST00000316364.5	+	13	1861	c.1422T>G	c.(1420-1422)caT>caG	p.H474Q	SEMA6D_ENST00000354744.4_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389428.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000358066.4_Missense_Mutation_p.H474Q|SEMA6D_ENST00000558014.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000355997.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389433.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389425.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000558816.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000536845.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000537942.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389432.2_Missense_Mutation_p.H474Q	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	474	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.H474Q(4)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCTACAACCATGCAAAGTAGG	0.423000													61	107					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105271017	105271017	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:105271017G>C	ENST00000306107.5	+	13	2037	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	ALCAM_ENST00000486979.2_Missense_Mutation_p.E462Q|ALCAM_ENST00000389927.4_Missense_Mutation_p.E235Q|ALCAM_ENST00000472644.2_Intron	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	513					cell adhesion|signal transduction	integral to membrane	receptor binding	p.E513Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGAGGCAGACGAGATAAGTGG	0.338000													21	57					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886822	23886822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:23886822C>A	ENST00000355349.3	-	31	4405	c.4243G>T	c.(4243-4245)Gag>Tag	p.E1415*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1415					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1415*(2)|p.E1415Q(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGGTCTTCTCCAGCGAGGAG	0.607000													29	68					6.90743e-12	8.35264e-12	1	1	0
AHCY	191	broad.mit.edu	37	20	32878562	32878562	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:32878562G>A	ENST00000538132.1	-	6	1043	c.657C>T	c.(655-657)atC>atT	p.I219I	AHCY_ENST00000217426.2_Silent_p.I247I	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	247					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	p.I247I(2)		endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGTGCGTTGATGGGGTCAA	0.632000													56	119					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22849675	22849675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:22849675G>T	ENST00000400546.1	+	15	2209	c.1960G>T	c.(1960-1962)Gag>Tag	p.E654*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E512*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	654	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.E654*(3)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CATCATTTTGGAGCATCTCCA	0.388000													42	113					2.29192e-23	3.29856e-23	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49432243	49432243	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:49432243G>A	ENST00000301067.7	-	34	8895	c.8896C>T	c.(8896-8898)Cgg>Tgg	p.R2966W		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R2696W(2)|p.R2966W(2)									GACGGGGGCCGGTTGACCAGC	0.602000													16	20					0	0	1	0	0
TMEM143	55260	broad.mit.edu	37	19	48845927	48845927	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:48845927C>T	ENST00000293261.3	-	6	1151	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	TMEM143_ENST00000436660.2_Missense_Mutation_p.A214T|TMEM143_ENST00000435956.3_Missense_Mutation_p.A244T|TMEM143_ENST00000377431.2_Missense_Mutation_p.A179T|TMEM143_ENST00000541566.1_Missense_Mutation_p.A169T	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	279						integral to membrane|mitochondrion		p.A279T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTGAGCAGGGCGCGCTGCAGG	0.642000													61	128					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79784770	79784770	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:79784770C>A	ENST00000372371.3	-	4	586	c.449G>T	c.(448-450)tGc>tTc	p.C150F		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	150					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.C150F(2)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTTCTTCCGGCACTTGTCAGA	0.468000													62	141					3.6896e-23	5.27908e-23	1	1	0
GATA3	2625	broad.mit.edu	37	10	8105983	8105983	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:8105983C>A	ENST00000379328.3	+	4	1374	c.806C>A	c.(805-807)gCa>gAa	p.A269E	GATA3_ENST00000346208.3_Missense_Mutation_p.A268E|GATA3_ENST00000461472.1_Intron	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	268					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.A269E(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AACTGTGGGGCAACCTCGACC	0.552000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						10	52					6.40141e-05	6.84932e-05	1	1	0
MARCO	8685	broad.mit.edu	37	2	119727850	119727850	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:119727850C>A	ENST00000541757.1	+	4	506	c.126C>A	c.(124-126)ctC>ctA	p.L42L	MARCO_ENST00000327097.4_Silent_p.L120L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	120					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.L120L(2)		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						AGGCCCAACTCACCTGGGTCC	0.612000													36	185					1.48646e-12	1.82758e-12	1	1	0
RTP2	344892	broad.mit.edu	37	3	187416442	187416442	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:187416442C>T	ENST00000358241.1	-	2	950	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	174					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.E174E(2)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TGGTCACCTCCTCCTCCAGCA	0.647000													12	56					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101904899	101904899	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:101904899C>T	ENST00000374994.4	+	5	1004	c.887C>T	c.(886-888)aCa>aTa	p.T296I	TGFBR1_ENST00000552516.1_Missense_Mutation_p.T300I|TGFBR1_ENST00000374990.2_Missense_Mutation_p.T219I|TGFBR1_ENST00000550253.1_Missense_Mutation_p.T227I	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	296	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.T296I(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AACAGATACACAGTTACTGTG	0.418000													22	224					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965693	88965693	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:88965693G>T	ENST00000333190.4	+	4	4006	c.3397G>T	c.(3397-3399)Gaa>Taa	p.E1133*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1133						intracellular	zinc ion binding	p.E1133*(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGACGGATTAGAAATGTGTCA	0.363000										HNSCC(36;0.09)			59	150					4.94307e-48	8.72167e-48	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43925996	43925996	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:43925996C>A	ENST00000389420.3	-	3	455	c.456G>T	c.(454-456)acG>acT	p.T152T	ADAMTS20_ENST00000553158.1_Silent_p.T152T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	152				T -> V (in Ref. 2; CAD56159/CAD56160).		proteinaceous extracellular matrix	zinc ion binding	p.T152T(2)|p.V152V(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAAATGTTCCCGTCTGAAAAT	0.353000													157	222					1.75869e-58	3.23528e-58	1	1	0
CPQ	10404	broad.mit.edu	37	8	97797421	97797421	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:97797421G>T	ENST00000220763.5	+	2	506	c.296G>T	c.(295-297)gGg>gTg	p.G99V		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	99					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	p.G99V(2)									CAGCAAGATGGGCTGGAGAAA	0.488000													119	152					3.98262e-75	7.65246e-75	1	1	0
DAW1	164781	broad.mit.edu	37	2	228771916	228771916	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:228771916A>T	ENST00000373666.2	+	10	1557	c.921A>T	c.(919-921)ctA>ctT	p.L307L	DAW1_ENST00000545118.1_Silent_p.L292L|DAW1_ENST00000309931.2_Silent_p.L307L					dynein assembly factor with WDR repeat domains 1									p.L307L(2)									ATGAAATACTAGACAGCTGCT	0.353000													45	314					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55549736	55549736	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:55549736C>A	ENST00000436346.1	-	18	3931	c.3090G>T	c.(3088-3090)tgG>tgT	p.W1030C	CCDC88A_ENST00000263630.8_Missense_Mutation_p.W1030C|CCDC88A_ENST00000336838.6_Missense_Mutation_p.W1029C|CCDC88A_ENST00000413716.2_Missense_Mutation_p.W1029C|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1030					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.W1029C(2)|p.W1030C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTCTCGCTCCCATTTGTTGT	0.328000													240	183					1.84071e-119	3.71176e-119	1	1	0
GPR111	222611	broad.mit.edu	37	6	47646847	47646847	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:47646847C>A	ENST00000398742.2	+	3	293	c.244C>A	c.(244-246)Ctt>Att	p.L82I	GPR111_ENST00000507065.1_Missense_Mutation_p.L82I|GPR111_ENST00000296862.1_Missense_Mutation_p.L150I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L150I(2)|p.L82I(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGCCAGACTCTTAATGCCCT	0.458000													18	148					7.45023e-12	8.99419e-12	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62019252	62019252	+	Missense_Mutation	SNP	C	C	T	rs150423825	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:62019252C>T	ENST00000578147.1	-	24	4466	c.4390G>A	c.(4390-4392)Ggg>Agg	p.G1464R	SCN4A_ENST00000435607.1_Missense_Mutation_p.G1464R			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1464					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1464R(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCCTTGGCCCCGCGGATCAGC	0.617000													23	28					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44119289	44119289	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:44119289G>A	ENST00000242248.5	-	4	624	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	POLM_ENST00000395831.3_Missense_Mutation_p.R175C|POLM_ENST00000335195.6_Missense_Mutation_p.R175C	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	175					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.R175C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GTGAGGAGGCGGCCCTCACTG	0.647000								DNA polymerases (catalytic subunits)					3	40					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132693794	132693794	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:132693794G>T	ENST00000367963.3	-	4	734	c.616C>A	c.(616-618)Caa>Aaa	p.Q206K	MOXD1_ENST00000336749.3_Missense_Mutation_p.Q138K	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	206					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.Q206K(2)|p.Q138K(2)		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)		TTAAACATTTGGCACCAATAT	0.348000													55	176					8.27458e-37	1.3557e-36	1	1	0
TTN	7273	broad.mit.edu	37	2	179565924	179565924	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:179565924G>T	ENST00000589042.1	-	111	30829	c.30605C>A	c.(30604-30606)cCt>cAt	p.P10202H	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P8958H|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P9885H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9885	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P8958H(2)		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)			AACCACAGGAGGGATTTCTGA	0.368000													77	191					2.93434e-44	5.1281e-44	1	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24889599	24889599	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:24889599C>A	ENST00000396432.2	-	14	3594	c.3108G>T	c.(3106-3108)caG>caT	p.Q1036H	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.Q823H|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1035	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.Q1035H(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTGCTCTCCTGGATCGTCT	0.443000													25	183					1.04121e-07	1.17037e-07	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296585	28296585	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:28296585G>A	ENST00000284987.5	-	8	2701	c.2580C>T	c.(2578-2580)aaC>aaT	p.N860N	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	860	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.N860N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TAGTGACAGAGTTTACTTTTG	0.483000													58	160					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56078492	56078492	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:56078492C>A	ENST00000429804.2	-	9	2250	c.1690_splice	c.e9+1	p.E564_splice	CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Splice_Site_p.E614_splice|CTCFL_ENST00000243914.3_Splice_Site_p.E614_splice|CTCFL_ENST00000371196.2_Splice_Site_p.E614_splice|CTCFL_ENST00000433949.2_Splice_Site_p.G614_splice|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000502686.2_Splice_Site_p.G352_splice	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	614					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.E614*(2)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAATCAGTACCGTCTCCGTTC	0.512000													88	138					1.81242e-41	3.10097e-41	1	1	0
TM9SF1	10548	broad.mit.edu	37	14	24662175	24662175	+	Missense_Mutation	SNP	G	G	A	rs150301168	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:24662175G>A	ENST00000530611.1	-	7	1306	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	TM9SF1_ENST00000528669.1_Missense_Mutation_p.R216W|TM9SF1_ENST00000556387.1_Missense_Mutation_p.R425W|TM9SF1_ENST00000396854.4_Missense_Mutation_p.R216W|TM9SF1_ENST00000524835.1_Missense_Mutation_p.R129W|TM9SF1_ENST00000261789.4_Missense_Mutation_p.R216W			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	216					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.R216W(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CTGTCACTCCGACGCTCCACT	0.532000													3	27					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924008	188924008	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:188924008G>T	ENST00000326866.4	+	4	455	c.47G>T	c.(46-48)gGc>gTc	p.G16V	ZFP42_ENST00000509524.1_Missense_Mutation_p.G16V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	16					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G16V(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CACCAGAAAGGCCTGGGTGGA	0.547000													28	71					8.88839e-20	1.22403e-19	1	1	0
PCDH20	64881	broad.mit.edu	37	13	61987564	61987564	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:61987564G>T	ENST00000409186.1	-	5	2773	c.668C>A	c.(667-669)cCt>cAt	p.P223H	PCDH20_ENST00000409204.4_Missense_Mutation_p.P223H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	196	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P196H(2)|p.P223H(2)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTGTTTACAGGTGCATTTTC	0.517000													74	125					1.10345e-40	1.87052e-40	1	1	0
TLL1	7092	broad.mit.edu	37	4	166935713	166935713	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:166935713G>T	ENST00000061240.2	+	8	1689		c.e8+1		TLL1_ENST00000513213.1_Splice_Site|TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGATGTCCAGGTATTGCACTA	0.458000													174	463					1.72054e-115	3.44107e-115	1	1	0
TIE1	7075	broad.mit.edu	37	1	43779579	43779579	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:43779579G>T	ENST00000372476.3	+	14	2428	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.L428L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	783					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.L783L(3)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTTAACCCTGGTGTGCATCC	0.657000													22	83					6.12954e-19	8.31623e-19	1	1	0
RBM17	84991	broad.mit.edu	37	10	6157491	6157491	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:6157491G>C	ENST00000446108.1	+	12	1822	c.1178G>C	c.(1177-1179)aGg>aCg	p.R393T	RBM17_ENST00000476706.1_3'UTR|RBM17_ENST00000379888.4_Missense_Mutation_p.R393T	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	393					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.R393T(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GACAAATTCAGGGTCTTGGAT	0.408000													53	211					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148964289	148964289	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:148964289G>A	ENST00000434415.1	+	4	812	c.649G>A	c.(649-651)Gga>Aga	p.G217R		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	217					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.G217R(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AGTAGAGGTGGGACGTCCAAG	0.592000													20	45					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2936699	2936699	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:2936699G>T	ENST00000381130.2	+	5	889	c.889G>T	c.(889-891)Gat>Tat	p.D297Y		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	297						integral to membrane	arylsulfatase activity|metal ion binding	p.D297Y(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGAAGAAATGGATTGGATGGT	0.398000													10	12					2.17888e-05	2.35537e-05	1	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254905	30254905	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:30254905C>T	ENST00000361644.2	+	5	1601	c.864C>T	c.(862-864)gtC>gtT	p.V288V	MAGEB3_ENST00000378986.1_Silent_p.V288V	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	288	MAGE.							p.V288V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AGATGAAGGTCCTGGAGTTTT	0.493000													29	37					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17208408	17208408	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:17208408G>T	ENST00000253692.7	-	21	3609	c.1945C>A	c.(1945-1947)Cta>Ata	p.L649I	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.L671I|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L649I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	649						intracellular	protein binding|Rab GTPase activator activity	p.L649I(2)		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						GAACCTTTTAGAATGTCTTTG	0.423000													15	27					3.27435e-08	3.68616e-08	1	1	0
SLC1A3	6507	broad.mit.edu	37	5	36686351	36686351	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:36686351G>T	ENST00000265113.4	+	10	2085	c.1609G>T	c.(1609-1611)Gac>Tac	p.D537Y	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.D492Y	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	537					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.D537Y(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GAAACCCATCGACAGTGAAAC	0.363000													99	137					6.71872e-74	1.28426e-73	1	1	0
OR4K14	122740	broad.mit.edu	37	14	20483031	20483031	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:20483031T>C	ENST00000305045.2	-	1	321	c.322A>G	c.(322-324)Act>Gct	p.T108A		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T108A(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCCCACCAGTAAAGTGCAAG	0.463000													50	99					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15628598	15628598	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:15628598T>A	ENST00000378076.3	-	23	2710	c.2357A>T	c.(2356-2358)cAg>cTg	p.Q786L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	786					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.Q786L(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATTTCCACCTGCGCTACAGC	0.368000													38	215					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66053948	66053948	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:66053948G>T	ENST00000503581.1	-	10	2119	c.1582C>A	c.(1582-1584)Cat>Aat	p.H528N	EYS_ENST00000393380.2_Missense_Mutation_p.H528N|EYS_ENST00000370616.2_Missense_Mutation_p.H528N|EYS_ENST00000370618.3_Missense_Mutation_p.H528N|EYS_ENST00000370621.3_Missense_Mutation_p.H528N|EYS_ENST00000342421.5_Missense_Mutation_p.H528N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	528					response to stimulus|visual perception	extracellular region	calcium ion binding	p.H528N(4)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTGCCTTCATGTGGGAACCAA	0.353000													67	205					1.88935e-48	3.34972e-48	1	1	0
ING3	54556	broad.mit.edu	37	7	120608099	120608099	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:120608099G>C	ENST00000315870.5	+	8	816	c.668G>C	c.(667-669)gGg>gCg	p.G223A	ING3_ENST00000431467.1_Missense_Mutation_p.G208A	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	223					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	p.G223A(2)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACTGGTGCAGGGGCAATTACC	0.433000													24	66					0	0	1	0	0
MIR409	574413	broad.mit.edu	37	14	101531710	101531710	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:101531710G>A	ENST00000362237.1	+	0	74					NR_029975.1																						CCCCTTTTCGGTATCAAATTC	0.592000													19	49					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	382518	382518	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:382518G>T	ENST00000256509.2	+	6	1069	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	CHL1_ENST00000397491.2_Missense_Mutation_p.V143L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	143	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.V143L(2)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCCTCTTGAAGTGGAGGAGGG	0.368000													18	30					5.26018e-13	6.51091e-13	1	1	0
CLIP2	7461	broad.mit.edu	37	7	73768231	73768231	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:73768231G>T	ENST00000223398.6	+	4	1027	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	CLIP2_ENST00000395060.1_Missense_Mutation_p.V234L|CLIP2_ENST00000361545.5_Missense_Mutation_p.V234L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	234						microtubule associated complex		p.V234L(2)|p.V234M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAAGACTGGCGTGGTGCGGTA	0.652000													76	212					4.10057e-40	6.88746e-40	1	1	0
ITPR1	3708	broad.mit.edu	37	3	4718485	4718485	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:4718485G>T	ENST00000302640.8	+	23	3272	c.2922_splice	c.e23+1	p.Q974_splice	ITPR1_ENST00000357086.4_Splice_Site_p.Q980_splice|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Splice_Site_p.Q989_splice|ITPR1_ENST00000443694.2_Splice_Site_p.Q974_splice|ITPR1_ENST00000456211.2_Splice_Site_p.Q965_splice|ITPR1_ENST00000423119.2_Splice_Site_p.Q980_splice	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	989					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.Q965H(2)|p.Q974H(2)|p.Q980H(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGATACTCCAGGTATCCACTA	0.547000													36	47					6.97489e-18	9.3083e-18	1	1	0
ABCC11	85320	broad.mit.edu	37	16	48218375	48218375	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:48218375G>T	ENST00000394747.1	-	22	3583	c.3234C>A	c.(3232-3234)gtC>gtA	p.V1078V	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.V1078V|ABCC11_ENST00000394748.1_Silent_p.V1078V|ABCC11_ENST00000356608.2_Silent_p.V1078V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1078	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V1078V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGACAGCCATGACTTTAAAGG	0.562000													138	226					6.15512e-72	1.17043e-71	1	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961382	73961382	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:73961382T>C	ENST00000373468.1	-	3	3661	c.3010A>G	c.(3010-3012)Agt>Ggt	p.S1004G	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S1004G			Q5QGS0	K2022_HUMAN	KIAA2022	1004					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.S1004G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAATAATTACTTGAGCTGACA	0.473000													46	194					0	0	1	0	0
TBC1D23	55773	broad.mit.edu	37	3	100002603	100002603	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:100002603C>A	ENST00000394144.4	+	4	431	c.424C>A	c.(424-426)Cgc>Agc	p.R142S	TBC1D23_ENST00000344949.5_Missense_Mutation_p.R142S|TBC1D23_ENST00000475134.1_Intron|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	142	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.R142S(4)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCAACTGCCACGCAGCGATTT	0.338000													57	191					2.40655e-23	3.45677e-23	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54304586	54304586	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:54304586T>C	ENST00000324134.6	-	7	2819	c.2651A>G	c.(2650-2652)cAg>cGg	p.Q884R	NLRP12_ENST00000535162.1_Missense_Mutation_p.Q884R|NLRP12_ENST00000391775.3_Missense_Mutation_p.Q884R|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.Q885R|NLRP12_ENST00000391773.1_Missense_Mutation_p.Q885R|NLRP12_ENST00000351894.4_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	884					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.Q884R(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTCAGGCTCTGGTTCACACT	0.592000													7	16					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119996441	119996441	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:119996441C>A	ENST00000341846.5	-	4	1712	c.1291G>T	c.(1291-1293)Gac>Tac	p.D431Y	TRIM29_ENST00000541857.1_Missense_Mutation_p.D164Y|TRIM29_ENST00000529044.1_Missense_Mutation_p.D170Y	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	431					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D431Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGCTCAGGTCCGCCTTGCAC	0.562000													13	25					1.37285e-15	1.7772e-15	1	1	0
TXLNB	167838	broad.mit.edu	37	6	139583834	139583834	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:139583834G>T	ENST00000358430.3	-	5	996	c.764C>A	c.(763-765)aCg>aAg	p.T255K		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	255						cytoplasm		p.T255K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGGATGTCCGTGAGGGTACT	0.488000													56	131					9.04393e-38	1.4951e-37	1	1	0
OR1D5	8386	broad.mit.edu	37	17	2966144	2966144	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:2966144C>A	ENST00000575751.1	-	1	757	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(4)		kidney(1)|lung(10)	11						AGCAAGCGTCCCATAAAAGAG	0.498000													48	205					6.03219e-31	9.36074e-31	1	1	0
HMCN1	83872	broad.mit.edu	37	1	185959564	185959564	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:185959564G>A	ENST00000271588.4	+	22	3595	c.3366G>A	c.(3364-3366)ccG>ccA	p.P1122P	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.P1122P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1122	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.P1122P(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATCTCACCGTTCTCTCCAA	0.468000													52	105					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661084	162661084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:162661084G>T	ENST00000375514.5	+	4	576	c.289G>T	c.(289-291)Gga>Tga	p.G97*	SLC4A10_ENST00000446997.1_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000535165.1_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000493021.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	86					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.G86*(4)		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						ATTAGAGGATGGAAGGGAGTC	0.378000													20	87					4.63292e-17	6.12715e-17	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176738883	176738883	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:176738883C>T	ENST00000367662.3	+	16	5628	c.4464C>T	c.(4462-4464)cgC>cgT	p.R1488R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1488	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1488R(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTGAAACGCTGCTCAATCT	0.522000													68	631					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216293	55216293	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:55216293C>A	ENST00000340465.2	+	5	699	c.613C>A	c.(613-615)Ctt>Att	p.L205I		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	205						integral to membrane	receptor activity	p.L205I(2)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAAGAAGCTCTTCACAGCAA	0.428000													229	478					6.34537e-87	1.24866e-86	1	1	0
SUPT7L	9913	broad.mit.edu	37	2	27884203	27884203	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:27884203C>A	ENST00000337768.5	-	3	636	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000405491.1_Missense_Mutation_p.D21Y|SUPT7L_ENST00000464789.2_Missense_Mutation_p.D21Y|SUPT7L_ENST00000406540.1_Missense_Mutation_p.D21Y	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	23					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.D23Y(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GGGAGCAAATCGAAGGAACTT	0.507000													72	97					9.46827e-25	1.3844e-24	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3228247	3228247	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:3228247T>A	ENST00000217939.6	-	7	8151	c.7997A>T	c.(7996-7998)cAg>cTg	p.Q2666L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2666	Ig-like C2-type 11.					extracellular region		p.Q2666L(4)		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)				GAAACGTCCCTGCCCAGCCCC	0.592000													15	20					0	0	1	0	0
IGLV1-40	28825	broad.mit.edu	37	22	22764308	22764308	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr22:22764308C>A	ENST00000390299.2	+	0	101																											CTTCCAGGGTCCTGGGCCCAG	0.617000											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	78					2.12129e-23	3.07105e-23	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885855	88885855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:88885855G>T	ENST00000319675.3	-	1	441	c.345C>A	c.(343-345)taC>taA	p.Y115*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	115								p.Y115*(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTTGTGCGGGTATACCCGGA	0.552000													82	166					9.07295e-45	1.58939e-44	1	1	0
ZNF354A	6940	broad.mit.edu	37	5	178139390	178139390	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:178139390T>A	ENST00000335815.2	-	5	1686	c.1489A>T	c.(1489-1491)Aac>Tac	p.N497Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	497					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N497Y(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CCACACTCGTTACATTTATAG	0.388000													61	92					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156784833	156784833	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:156784833G>T	ENST00000392306.2	-	3	443	c.304C>A	c.(304-306)Cgg>Agg	p.R102R	SH2D2A_ENST00000495306.1_5'UTR|SH2D2A_ENST00000368198.3_Silent_p.R84R|SH2D2A_ENST00000368199.3_Silent_p.R102R	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	102	SH2.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.R102R(4)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTCACCTCCGGGTGATGAAG	0.637000													7	44					1.06961e-07	1.19862e-07	1	1	0
OR6S1	341799	broad.mit.edu	37	14	21108972	21108972	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:21108972A>G	ENST00000320704.3	-	1	878	c.879T>C	c.(877-879)taT>taC	p.Y293Y		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y293Y(2)		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)		TACGTAAGGCATAGATGAATG	0.438000													169	449					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188925302	188925302	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:188925302G>T	ENST00000345063.3	+	2	296	c.129G>T	c.(127-129)agG>agT	p.R43S	TPRG1_ENST00000433971.1_Missense_Mutation_p.R43S	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	43								p.R43S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AGATTTCAAGGCAGTCAAGTG	0.473000													98	289					1.92787e-56	3.52881e-56	1	1	0
TOX2	84969	broad.mit.edu	37	20	42635213	42635213	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:42635213C>A	ENST00000358131.5	+	3	427	c.219C>A	c.(217-219)aaC>aaA	p.N73K	TOX2_ENST00000423191.1_Missense_Mutation_p.N22K|TOX2_ENST00000372999.1_Missense_Mutation_p.N22K|TOX2_ENST00000341197.3_Missense_Mutation_p.N64K	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.N73K(2)|p.N22K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGAGAACAACGAAGACTATG	0.557000													36	256					9.84934e-19	1.3265e-18	1	1	0
SPATS1	221409	broad.mit.edu	37	6	44337843	44337843	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:44337843A>G	ENST00000288390.2	+	6	1098	c.751A>G	c.(751-753)Att>Gtt	p.I251V	SPATS1_ENST00000323108.8_Missense_Mutation_p.I251V			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	251								p.I251V(4)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTCCACAAATTCCCAAGTG	0.343000													44	55					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176556078	176556078	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:176556078T>A	ENST00000280187.7	-	8	860	c.815A>T	c.(814-816)gAg>gTg	p.E272V	GPM6A_ENST00000506894.1_Missense_Mutation_p.E261V|GPM6A_ENST00000393658.2_Missense_Mutation_p.E272V|GPM6A_ENST00000515090.1_Missense_Mutation_p.E265V|GPM6A_ENST00000506219.1_5'UTR	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	272						cell surface|integral to membrane		p.E272V(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATTGAGCCGCTCTTTGGAGCG	0.448000													90	211					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47869180	47869180	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:47869180C>T	ENST00000289672.2	-	44	6628	c.6578G>A	c.(6577-6579)gGt>gAt	p.G2193D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2193					cell-cell adhesion	integral to membrane		p.G2193D(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCAAGCAAAACCCAAGGCCAT	0.498000													32	241					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158531731	158531731	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:158531731C>G	ENST00000251527.5	-	18	2396	c.2331G>C	c.(2329-2331)gtG>gtC	p.V777V	ESYT2_ENST00000435514.2_Silent_p.V212V	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	805						integral to membrane|plasma membrane		p.V777V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CATGCACGACCACGATAAGCT	0.607000													33	130					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33643548	33643548	+	Missense_Mutation	SNP	C	C	A	rs138321976		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:33643548C>A	ENST00000504830.1	-	10	1842	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V503L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	503	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V503L(2)		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						AAGCCCTTCACGGAGCACCAC	0.468000										HNSCC(64;0.19)			128	329					6.4202e-37	1.05423e-36	1	1	0
CPQ	10404	broad.mit.edu	37	8	97892084	97892084	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:97892084A>T	ENST00000220763.5	+	4	910	c.700A>T	c.(700-702)Att>Ttt	p.I234F		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	234					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	p.I234F(2)									AACAGCCTGTATTACGGTGGA	0.453000													356	506					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261227	1261227	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:1261227G>T	ENST00000348261.5	+	22	4531	c.4283G>T	c.(4282-4284)aGg>aTg	p.R1428M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1428M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1428M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1428					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	p.R1428M(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCATCACTCAGGCCCATTGGG	0.597000													8	12					0.000274275	0.000290502	1	1	0
ABCA4	24	broad.mit.edu	37	1	94496568	94496568	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:94496568G>T	ENST00000370225.3	-	28	4323	c.4237C>A	c.(4237-4239)Cag>Aag	p.Q1413K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1413					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q1413K(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAGGTGTACTGCTGCCCATAT	0.552000													13	77					4.3838e-07	4.87532e-07	1	1	0
NDST3	9348	broad.mit.edu	37	4	119064823	119064823	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:119064823C>A	ENST00000296499.5	+	6	1926	c.1523C>A	c.(1522-1524)aCt>aAt	p.T508N	NDST3_ENST00000433996.2_Missense_Mutation_p.T427N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	508	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.T508N(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTTTCTTCACTGTCGTCCTC	0.428000													21	49					3.83957e-06	4.21262e-06	1	1	0
UROC1	131669	broad.mit.edu	37	3	126224636	126224636	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:126224636C>T	ENST00000290868.2	-	8	774	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	UROC1_ENST00000383579.3_Missense_Mutation_p.G241R	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	241					histidine catabolic process	cytosol	urocanate hydratase activity	p.G241R(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AAGACCTTCCCAGCCAAGTCC	0.637000													18	45					0	0	1	0	0
ATP6V0B	533	broad.mit.edu	37	1	44441771	44441771	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:44441771G>A	ENST00000532642.1	+	3	223	c.126G>A	c.(124-126)acG>acA	p.T42T	ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000498664.1_5'UTR|ATP6V0B_ENST00000471859.2_Silent_p.T89T|ATP6V0B_ENST00000472174.2_Silent_p.T42T|ATP6V0B_ENST00000236067.4_5'UTR			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	42					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	p.T42T(2)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGTTCCTGACGGAGACTTCGC	0.562000													12	100					0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135730460	135730460	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:135730460C>G	ENST00000370629.2	+	1	109	c.53C>G	c.(52-54)cCc>cGc	p.P18R	CD40LG_ENST00000370628.2_Missense_Mutation_p.P18R	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	18					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.P18R(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	ACTGGACTGCCCATCAGCATG	0.423000									Immune Deficiency with Hyper-IgM				298	121					0	0	1	0	0
ALG2	85365	broad.mit.edu	37	9	101980430	101980430	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:101980430G>A	ENST00000476832.1	-	2	1098	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ALG2_ENST00000319033.6_Missense_Mutation_p.S253L	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	346					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.S346L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGGTCCACCCGAATTAACAGC	0.507000													10	57					0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775240	231775240	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:231775240C>A	ENST00000392040.1	-	2	630	c.438G>T	c.(436-438)tgG>tgT	p.W146C	GPR55_ENST00000392039.2_Missense_Mutation_p.W146C	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	146					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.W146C(2)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ACACCAGGACCCAGATGGTGC	0.542000													33	54					2.42023e-17	3.21821e-17	1	1	0
WBSCR22	114049	broad.mit.edu	37	7	73101344	73101344	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:73101344G>T	ENST00000265758.2	+	5	339	c.281G>T	c.(280-282)cGa>cTa	p.R94L	WBSCR22_ENST00000423497.1_Missense_Mutation_p.R94L|WBSCR22_ENST00000423166.2_Intron	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	94						nucleus	methyltransferase activity	p.R94L(2)		autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCTGTGGACCGAGAGATAGAG	0.522000													18	55					1.33834e-09	1.53731e-09	1	1	0
VEGFC	7424	broad.mit.edu	37	4	177608608	177608608	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:177608608C>A	ENST00000280193.2	-	6	1293	c.878G>T	c.(877-879)tGt>tTt	p.C293F	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	293	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.C293F(2)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCTGCAGACACACTGACAGGT	0.483000													38	130					2.20474e-14	2.79979e-14	1	1	0
AP3D1	8943	broad.mit.edu	37	19	2127179	2127179	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:2127179G>A	ENST00000355272.6	-	9	1034	c.828C>T	c.(826-828)ctC>ctT	p.L276L	AP3D1_ENST00000356926.4_Silent_p.L185L|AP3D1_ENST00000345016.5_Silent_p.L276L|AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000590683.1_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	276					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	p.L276L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACATTCATAGAGGAGAGACA	0.602000													11	24					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560197	32560197	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:32560197C>T	ENST00000345122.3	+	2	637	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R108W|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R108W|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R108W|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	108					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.R108S(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTTGCCTCATCGGAGTACGAA	0.383000													47	148					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513259	106513259	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:106513259G>T	ENST00000359195.3	+	4	2473	c.2163G>T	c.(2161-2163)ctG>ctT	p.L721L	PIK3CG_ENST00000440650.2_Silent_p.L721L|PIK3CG_ENST00000496166.1_Silent_p.L721L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	721					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.L721L(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCCTATCTGAGGGGCTGTG	0.453000													39	94					3.61848e-18	4.84665e-18	1	1	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32122510	32122510	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:32122510G>T	ENST00000422437.1	+	2	330	c.139G>T	c.(139-141)Gac>Tac	p.D47Y	PPT2_ENST00000375143.2_Missense_Mutation_p.D47Y|PPT2_ENST00000445576.2_Missense_Mutation_p.D47Y|PPT2_ENST00000324816.6_Missense_Mutation_p.D47Y|PPT2_ENST00000375137.2_Missense_Mutation_p.D47Y|PPT2_ENST00000395523.1_Missense_Mutation_p.D47Y|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000493548.1_3'UTR|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000361568.2_Missense_Mutation_p.D53Y														p.D53Y(1)									TGGGCTCTTCGACAGCTCGTA	0.637000													4	49					3.59834e-05	3.8727e-05	1	1	0
AKNA	80709	broad.mit.edu	37	9	117139580	117139580	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:117139580C>A	ENST00000307564.4	-	3	668	c.507G>T	c.(505-507)agG>agT	p.R169S	AKNA_ENST00000374075.5_Missense_Mutation_p.R88S|AKNA_ENST00000312033.3_Missense_Mutation_p.R169S|AKNA_ENST00000374088.3_Missense_Mutation_p.R169S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R169S(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCACCCAGCCCCTGGCCTGAC	0.592000													24	60					1.51926e-22	2.16111e-22	1	1	0
SLC5A12	159963	broad.mit.edu	37	11	26700315	26700315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:26700315C>A	ENST00000396005.3	-	13	1832	c.1523G>T	c.(1522-1524)aGt>aTt	p.S508I		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	508					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.S508I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCCCACTGCACTGTAGTAAAG	0.463000													114	184					2.87069e-51	5.16442e-51	1	1	0
TUBB6	84617	broad.mit.edu	37	18	12325202	12325202	+	Missense_Mutation	SNP	G	G	C	rs148645230	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:12325202G>C	ENST00000591208.1	+	5	363	c.332G>C	c.(331-333)cGc>cCc	p.R111P	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000317702.5_Silent_p.S138S|TUBB6_ENST00000591909.1_Intron	NM_032525.1	NP_115914.1	Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	0					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.S138S(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		TCACGCACTCGCTGGGCGGCG	0.657000													10	24					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74902192	74902192	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:74902192C>T	ENST00000370891.2	+	21	2179	c.2163C>T	c.(2161-2163)aaC>aaT	p.N721N	FPGT-TNNI3K_ENST00000370899.3_Silent_p.N721N|TNNI3K_ENST00000326637.3_Silent_p.N620N|FPGT-TNNI3K_ENST00000557284.1_Silent_p.N721N	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase									p.N620N(2)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						ATGAAGACAACATGACAAAAC	0.358000													19	71					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721475	198721475	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:198721475G>T	ENST00000367376.2	+	30	3470	c.3299G>T	c.(3298-3300)cGt>cTt	p.R1100L	PTPRC_ENST00000442510.2_Missense_Mutation_p.R1102L|PTPRC_ENST00000348564.6_Missense_Mutation_p.R941L|PTPRC_ENST00000352140.3_Missense_Mutation_p.R1052L|PTPRC_ENST00000594404.1_Missense_Mutation_p.R939L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1100	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1100L(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TATACCCTTCGTGTCTTTGAA	0.358000													82	303					1.59803e-59	2.95454e-59	1	1	0
PZP	5858	broad.mit.edu	37	12	9302192	9302192	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:9302192G>T	ENST00000261336.2	-	35	4419	c.4391C>A	c.(4390-4392)tCt>tAt	p.S1464Y	PZP_ENST00000381997.2_Missense_Mutation_p.S1250Y	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.S1250Y(2)|p.S1464Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGCAACCACAGACTCATCTGA	0.463000													81	147					2.43056e-48	4.29887e-48	1	1	0
TRBV7-8	28590	broad.mit.edu	37	7	142099485	142099485	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:142099485G>T	ENST00000390359.3	-	0	355																											ATACACGGCGGAGTCCTCCTG	0.557000													75	274					5.86298e-51	1.05218e-50	1	1	0
MEGF10	84466	broad.mit.edu	37	5	126774191	126774191	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:126774191C>A	ENST00000274473.6	+	18	2432	c.2165C>A	c.(2164-2166)gCt>gAt	p.A722D	MEGF10_ENST00000503335.2_Missense_Mutation_p.A722D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	722	EGF-like 13.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.A722D(2)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CATAATGGAGCTTTCTGCAGC	0.532000													90	168					4.58075e-42	7.87416e-42	1	1	0
BAZ2B	29994	broad.mit.edu	37	2	160229615	160229615	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:160229615C>G	ENST00000392783.2	-	27	4649	c.4154G>C	c.(4153-4155)cGg>cCg	p.R1385P	BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1349P|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1351P|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1285P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R1385P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AATCCAGTACCGGCGTCTGTA	0.428000													48	218					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433781	179433781	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:179433781A>C	ENST00000589042.1	-	326	77302	c.77078T>G	c.(77077-77079)aTt>aGt	p.I25693S	TTN_ENST00000359218.5_Missense_Mutation_p.I16753S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I16820S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I16628S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I23125S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I24052S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24052	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I23123S(2)|p.I23125S(2)|p.I16628S(2)|p.I16753S(2)|p.I16820S(2)		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)			TGCAACCTTAATTGGATCAGC	0.443000													74	182					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36563472	36563472	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:36563472C>A	ENST00000397799.1	-	4	2034	c.1810G>T	c.(1810-1812)Ggc>Tgc	p.G604C	COL8A2_ENST00000303143.4_Missense_Mutation_p.G604C|COL8A2_ENST00000481785.1_Missense_Mutation_p.G539C			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	604	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	p.G604C(2)		NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGTTGTAGCCGCTGTGGCCA	0.622000													7	6					0.00621372	0.00639673	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110863998	110863998	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:110863998A>T	ENST00000375820.4	-	8	585	c.464T>A	c.(463-465)aTg>aAg	p.M155K	COL4A1_ENST00000543140.1_Missense_Mutation_p.M155K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	155					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.M155K(2)		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)			ATGTACCTTCATCCCTGGTAA	0.313000													26	53					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15829246	15829246	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:15829246G>T	ENST00000338282.6	-	26	3589	c.3483C>A	c.(3481-3483)agC>agA	p.S1161R	MYH11_ENST00000396324.3_Missense_Mutation_p.S1168R|MYH11_ENST00000300036.5_Missense_Mutation_p.S1161R|MYH11_ENST00000576790.1_Missense_Mutation_p.S1161R|MYH11_ENST00000452625.2_Missense_Mutation_p.S1168R	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1161					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.S1168R(2)|p.S1161R(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAGTGGCTGTGCTGTCCAGTG	0.602000			T	CBFB	AML								28	108					3.68427e-32	5.79069e-32	1	1	0
AKAP13	11214	broad.mit.edu	37	15	86266326	86266326	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:86266326C>A	ENST00000394518.2	+	26	6615	c.6520C>A	c.(6520-6522)Cta>Ata	p.L2174I	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.L2178I|AKAP13_ENST00000394510.2_Missense_Mutation_p.L419I	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2174	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.L2178I(2)|p.L254I(2)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCAGGAAGATCTAGCACAGTC	0.418000													56	99					1.33661e-31	2.09184e-31	1	1	0
DAB1	1600	broad.mit.edu	37	1	57611099	57611099	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:57611099T>A	ENST00000371236.2	-	3	334	c.71A>T	c.(70-72)cAg>cTg	p.Q24L	DAB1_ENST00000439789.2_Missense_Mutation_p.Q24L|DAB1_ENST00000371234.4_Missense_Mutation_p.Q24L|DAB1_ENST00000371230.1_Missense_Mutation_p.Q24L|DAB1_ENST00000371231.1_Missense_Mutation_p.Q24L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.Q24L|DAB1_ENST00000414851.2_Missense_Mutation_p.Q24L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	24					cell differentiation|nervous system development			p.Q24L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACTGCGATCCTGACCTAAAAA	0.458000													43	135					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67108500	67108500	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:67108500C>A	ENST00000371037.4	+	6	313	c.236C>A	c.(235-237)cCt>cAt	p.P79H	SGIP1_ENST00000371035.3_Missense_Mutation_p.P36H|SGIP1_ENST00000371036.3_Missense_Mutation_p.P54H|SGIP1_ENST00000371039.1_Missense_Mutation_p.P55H|SGIP1_ENST00000237247.6_Missense_Mutation_p.P83H|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	79					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.P79H(2)|p.P55H(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAGAACTCACCTGAGCTGGAT	0.328000													47	126					1.07363e-35	1.73961e-35	1	1	0
DPEP3	64180	broad.mit.edu	37	16	68010643	68010643	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:68010643C>T	ENST00000268793.4	-	8	1502	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	352					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.E377K(2)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCGATGAACTCAGATCCAATG	0.562000													5	11					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859297	189859297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:189859297G>T	ENST00000304636.3	+	19	1494	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.E442*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	442	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.E442*(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGCCAAAGGAGAGCCCGGACC	0.398000													32	97					2.13384e-23	3.08315e-23	1	1	0
HECW1	23072	broad.mit.edu	37	7	43436451	43436451	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:43436451A>G	ENST00000395891.1	+	7	1199	c.594A>G	c.(592-594)ggA>ggG	p.G198G	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Silent_p.G198G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	198	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.G177G(2)|p.G198G(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCGTCCAAGGACAAGGAAGTC	0.423000													29	215					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347339	91347339	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:91347339G>A	ENST00000358859.2	-	1	1614	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1									p.P394L(2)									GGATTCCTGTGGCACTTTGGG	0.408000													14	26					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128061	117128061	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:117128061G>C	ENST00000310357.3	-	3	828	c.807C>G	c.(805-807)gcC>gcG	p.A269A	GPRC6A_ENST00000530250.1_Silent_p.A269A|GPRC6A_ENST00000368549.3_Silent_p.A269A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	269					response to amino acid stimulus		G-protein coupled receptor activity	p.A269A(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CATTAACCTGGGCTTCTAAAA	0.363000													67	118					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750371	234750371	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:234750371C>A	ENST00000411486.2	-	8	1120	c.1055G>T	c.(1054-1056)gGt>gTt	p.G352V	HJURP_ENST00000441687.1_Missense_Mutation_p.G267V|HJURP_ENST00000432087.1_Missense_Mutation_p.G298V	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	352					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.G352F(2)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CAATTTTAAACCTGTCTTACG	0.433000													6	54					0.0215528	0.0218203	1	1	0
MYH2	4620	broad.mit.edu	37	17	10432233	10432233	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:10432233C>A	ENST00000245503.5	-	27	3902	c.3518G>T	c.(3517-3519)cGg>cTg	p.R1173L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1173L|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1173					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1173L(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCAGCCTCCCGCTTCTTGTT	0.597000													39	71					1.51943e-15	1.96003e-15	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5294629	5294629	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:5294629G>T	ENST00000546004.1	-	2	633	c.387C>A	c.(385-387)gcC>gcA	p.A129A	PROKR2_ENST00000217270.3_Silent_p.A129A			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	129						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A129A(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						AGTTGACGGAGGCACAGAGCA	0.607000										HNSCC(71;0.22)			16	33					1.99824e-07	2.23243e-07	1	1	0
DDX42	11325	broad.mit.edu	37	17	61864590	61864590	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:61864590A>C	ENST00000578681.1	+	3	782	c.181A>C	c.(181-183)Aaa>Caa	p.K61Q	DDX42_ENST00000457800.2_Missense_Mutation_p.K61Q|DDX42_ENST00000389924.2_Missense_Mutation_p.K61Q|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.K61Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	61					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.K61Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCTTTCTACAAAATTGGATC	0.448000													18	55					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160146346	160146346	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:160146346T>A	ENST00000368081.4	+	17	3015	c.2544T>A	c.(2542-2544)gaT>gaA	p.D848E	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	848					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.D848E(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAAGACGGATAATCTGGTGA	0.567000													59	130					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110584388	110584388	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:110584388A>T	ENST00000369795.3	+	8	812	c.790A>T	c.(790-792)Atc>Ttc	p.I264F	STRIP1_ENST00000369796.1_Missense_Mutation_p.I169F	NM_033088.2	NP_149079.2			striatin interacting protein 1									p.I264F(2)									GCCATTTGCCATCATGCTGTT	0.532000													36	146					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15470780	15470780	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:15470780T>A	ENST00000281513.5	-	36	4314	c.4289A>T	c.(4288-4290)cAg>cTg	p.Q1430L	NBAS_ENST00000441750.1_Missense_Mutation_p.Q1310L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1430								p.Q1430L(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGACGGCCTGCAGCACCGC	0.493000													115	183					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364128	43364128	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:43364128G>A	ENST00000344686.2	-	0	927							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.P274P(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAGGTTTCCAGGGCTGGAGAG	0.622000													5	14					0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101089990	101089990	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:101089990C>A	ENST00000376865.1	+	3	179	c.172C>A	c.(172-174)Cgc>Agc	p.R58S		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	58					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.R58S(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						ACCTCTTTCTCGCCAACCTAA	0.338000													16	31					8.00594e-06	8.73159e-06	1	1	0
DYTN	391475	broad.mit.edu	37	2	207528121	207528121	+	Splice_Site	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:207528121T>A	ENST00000452335.2	-	11	1257		c.e11-2			NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin							plasma membrane	zinc ion binding	p.?(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CAACCTTGCCTGGGGAAACAA	0.378000													23	46					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487640	131487640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:131487640G>T	ENST00000309926.4	+	1	998	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	306						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E306*(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGCTAACAGTGAGGTACTCAT	0.597000													17	99					1.33834e-09	1.53731e-09	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103128358	103128358	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:103128358C>T	ENST00000375735.2	+	69	10627	c.10483C>T	c.(10483-10485)Ctg>Ttg	p.L3495L	DYNC2H1_ENST00000398093.3_Silent_p.L3502L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3495					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	p.L935L(2)		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)		CTATCTCCCCCTGGCTGAGAG	0.423000													36	127					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267441	107267441	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:107267441G>T	ENST00000334726.2	+	1	987	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A300S(2)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGAAAGTGGCCTTGAAAAA	0.358000													4	43					0.150653	0.151479	1	1	0
DYSF	8291	broad.mit.edu	37	2	71827833	71827833	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:71827833G>T	ENST00000258104.3	+	34	3981	c.3702_splice	c.e34-1	p.G1235_splice	DYSF_ENST00000409582.3_Splice_Site_p.G1252_splice|DYSF_ENST00000413539.2_Splice_Site_p.G1266_splice|DYSF_ENST00000429174.2_Splice_Site_p.G1235_splice|DYSF_ENST00000410041.1_Splice_Site_p.G1253_splice|DYSF_ENST00000409366.1_Splice_Site_p.G1236_splice|DYSF_ENST00000394120.2_Splice_Site_p.G1236_splice|DYSF_ENST00000410020.3_Splice_Site_p.G1253_splice|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Splice_Site_p.G1252_splice|DYSF_ENST00000409651.1_Splice_Site_p.G1267_splice|DYSF_ENST00000409744.1_Splice_Site_p.G1222_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1235	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.G1235V(2)|p.G1253V(2)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTGGTCTAGGGTGCAGACGAG	0.577000													36	97					2.77807e-22	3.93649e-22	1	1	0
ACTN2	88	broad.mit.edu	37	1	236907995	236907995	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:236907995G>T	ENST00000366578.4	+	12	1491	c.1325G>T	c.(1324-1326)cGg>cTg	p.R442L	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R442L|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	442					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.R442L(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTCTGCTGCGGAAGCACGAG	0.592000													27	81					1.06801e-11	1.28301e-11	1	1	0
BBOX1	8424	broad.mit.edu	37	11	27147256	27147256	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:27147256A>T	ENST00000263182.3	+	8	1260	c.892A>T	c.(892-894)Aca>Tca	p.T298S	RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.T298S|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.T298S|BBOX1_ENST00000528583.1_Missense_Mutation_p.T298S|RP11-1L12.3_ENST00000525302.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	298					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.T298S(2)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	aactagggacacaatatttga	0.348000													8	19					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587961	247587961	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:247587961T>C	ENST00000366497.2	+	4	1996	c.1216T>C	c.(1216-1218)Ttc>Ctc	p.F406L	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.F406L|NLRP3_ENST00000348069.2_Missense_Mutation_p.F406L|NLRP3_ENST00000391828.3_Missense_Mutation_p.F406L|NLRP3_ENST00000366496.2_Missense_Mutation_p.F406L|NLRP3_ENST00000391827.2_Missense_Mutation_p.F406L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	406	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.F406L(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGAGGTCCTCTTCACCATGTG	0.532000													86	205					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4164474	4164474	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:4164474C>T	ENST00000294016.3	-	2	1508	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	324					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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.E324K(2)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTTCCACTTCCAGGTCCTTC	0.522000													12	25					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39314400	39314400	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:39314400C>A	ENST00000381897.1	-	11	1488	c.1355G>T	c.(1354-1356)cGt>cTt	p.R452L	RFC1_ENST00000349703.2_Missense_Mutation_p.R452L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	452	BRCT.				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.R452L(2)|p.R452H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCACTATCACGACCCATGAC	0.453000													637	1729					1.45522e-70	2.76003e-70	1	1	0
WDR70	55100	broad.mit.edu	37	5	37703180	37703180	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:37703180C>G	ENST00000265107.4	+	13	1563	c.1407C>G	c.(1405-1407)atC>atG	p.I469M		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	469								p.I469M(2)		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)			AAATAGACATCACAGATGCGG	0.393000													30	188					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20801733	20801733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:20801733G>T	ENST00000359062.3	+	13	2717	c.2677G>T	c.(2677-2679)Gaa>Taa	p.E893*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	893	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E893*(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGACCATGTGGAATTTAAGCA	0.403000													54	91					4.17328e-34	6.73229e-34	1	1	0
CPXM2	119587	broad.mit.edu	37	10	125528162	125528162	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:125528162C>A	ENST00000241305.3	-	9	1333	c.1179G>T	c.(1177-1179)gtG>gtT	p.V393V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	393					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.V393V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACACGAACTGCACCAGCAGCA	0.627000													149	241					4.45741e-77	8.6554e-77	1	1	0
IGHD	3495	broad.mit.edu	37	14	106311889	106311889	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:106311889G>A	ENST00000390556.2	-	0	121																											CCATGTACCAGGTGACAGTCA	0.562000													18	67					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42799619	42799619	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:42799619C>A	ENST00000310232.6	-	2	302	c.219G>T	c.(217-219)aaG>aaT	p.K73N	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	73								p.K73N(2)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCATTTACCTCTTCTCAAAGC	0.488000													32	39					1.45844e-13	1.82678e-13	1	1	0
HNF4G	3174	broad.mit.edu	37	8	76452274	76452274	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:76452274C>A	ENST00000396423.2	+	1	171	c.47C>A	c.(46-48)aCt>aAt	p.T16N	HNF4G_ENST00000354370.1_Intron	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	0					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.T16N(2)		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)			ACTTACACAACTTTGGAGTTT	0.343000													63	249					1.94393e-27	2.91193e-27	1	1	0
RELN	5649	broad.mit.edu	37	7	103275876	103275876	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:103275876G>T	ENST00000424685.2	-	19	2620	c.2461C>A	c.(2461-2463)Ccc>Acc	p.P821T	RELN_ENST00000343529.5_Missense_Mutation_p.P821T|RELN_ENST00000428762.1_Missense_Mutation_p.P821T			P78509	RELN_HUMAN	reelin	821					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	p.P821T(2)		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)		ACATACCTGGGCTCATGATAG	0.368000													29	89					9.04072e-19	1.22208e-18	1	1	0
SLC8A3	6547	broad.mit.edu	37	14	70515594	70515594	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:70515594C>G	ENST00000381269.2	-	7	3050	c.2297G>C	c.(2296-2298)gGc>gCc	p.G766A	SLC8A3_ENST00000357887.3_Missense_Mutation_p.G764A|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G764A|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G763A|SLC8A3_ENST00000533541.1_Missense_Mutation_p.G123A|SLC8A3_ENST00000394330.2_Missense_Mutation_p.G123A|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G760A|SLC8A3_ENST00000216568.7_Missense_Mutation_p.G137A	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	766					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G766A(2)|p.G764A(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTGAGCATGCCAATGATGAG	0.572000													23	50					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44449622	44449622	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:44449622C>A	ENST00000360029.3	-	1	1202	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	307						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D307Y(2)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATCTTGTCGTCGCGGTACTGG	0.632000										HNSCC(17;0.042)			2	6					0.004672	0.00484357	1	1	0
ZEB2	9839	broad.mit.edu	37	2	145274897	145274897	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:145274897C>A	ENST00000558170.2	-	2	1205	c.21G>T	c.(19-21)gcG>gcT	p.A7A	ZEB2_ENST00000465070.1_Silent_p.A7A|ZEB2_ENST00000493689.1_5'UTR|ZEB2_ENST00000303660.4_Silent_p.A7A|ZEB2_ENST00000409487.3_Silent_p.A7A|ZEB2_ENST00000462355.1_Silent_p.A7A|ZEB2_ENST00000470879.1_Silent_p.A7A|ZEB2_ENST00000539609.3_Silent_p.A7A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	7						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.A7A(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGGGCCATCCGCCATGATCG	0.587000													5	28					0.000602214	0.000636008	1	1	0
TRBV7-3	28595	broad.mit.edu	37	7	142247121	142247121	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:142247121G>T	ENST00000390361.3	-	0	384																											TAAGCTGCTGGCACAGAGATA	0.537000													53	180					5.73332e-34	9.20843e-34	1	1	0
CHI3L2	1117	broad.mit.edu	37	1	111778693	111778693	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:111778693G>T	ENST00000445067.2	+	9	1424	c.653G>T	c.(652-654)tGg>tTg	p.W218L	CHI3L2_ENST00000369744.2_Missense_Mutation_p.W208L|CHI3L2_ENST00000369748.4_Missense_Mutation_p.W218L|CHI3L2_ENST00000524472.1_Missense_Mutation_p.W139L|CHI3L2_ENST00000466741.1_Missense_Mutation_p.W139L			Q15782	CH3L2_HUMAN	chitinase 3-like 2	218					chitin catabolic process	extracellular space	cation binding|chitinase activity	p.W218L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CATGGGTCTTGGGAAAAGCCC	0.512000													41	140					4.18559e-23	5.97708e-23	1	1	0
CNGA2	1260	broad.mit.edu	37	X	150912077	150912077	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:150912077G>A	ENST00000329903.4	+	6	1135	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	368					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.V368M(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCACCATCGTGGGAAATGT	0.507000													209	90					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121220515	121220515	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:121220515G>A	ENST00000297848.3	+	11	1506	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L	COL14A1_ENST00000309791.4_Silent_p.L412L|COL14A1_ENST00000247781.3_Silent_p.L317L|COL14A1_ENST00000537875.1_Silent_p.L412L|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	412	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.L412L(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGAAAAACTTGATGTCTTTAA	0.388000													38	62					0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130941545	130941545	+	Missense_Mutation	SNP	C	C	G	rs111464781		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:130941545C>G	ENST00000538431.1	-	8	1188	c.941G>C	c.(940-942)cGg>cCg	p.R314P	CIZ1_ENST00000357558.5_Missense_Mutation_p.R314P|CIZ1_ENST00000372954.1_Missense_Mutation_p.R290P|CIZ1_ENST00000393608.1_Missense_Mutation_p.R314P|CIZ1_ENST00000325721.8_Missense_Mutation_p.R285P|CIZ1_ENST00000372948.3_Missense_Mutation_p.R314P|CIZ1_ENST00000372938.5_Missense_Mutation_p.R314P|CIZ1_ENST00000541172.1_Missense_Mutation_p.R213P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000277465.4_Missense_Mutation_p.R314P	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	314	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding	p.R314P(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCAGGACCCGTGGCTGGAA	0.632000													14	36					0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211085421	211085421	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:211085421C>G	ENST00000233710.3	-	2	410	c.183G>C	c.(181-183)cgG>cgC	p.R61R	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	61					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	p.R61R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TTACACTTTTCCGGAAAATGT	0.383000													4	21					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123170627	123170627	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:123170627C>A	ENST00000349780.4	-	31	4903	c.4724G>T	c.(4723-4725)aGa>aTa	p.R1575I	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1543I|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1575I|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1534I	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1575					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.R1575I(2)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAGTACCTCTCAGTCTCCT	0.562000													40	345					2.40228e-13	2.99367e-13	1	1	0
RNF32	140545	broad.mit.edu	37	7	156469174	156469174	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:156469174G>A	ENST00000405335.1	+	10	1323	c.914G>A	c.(913-915)gGt>gAt	p.G305D	RNF32_ENST00000432459.2_Missense_Mutation_p.G305D|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000317955.5_Missense_Mutation_p.G305D|RNF32_ENST00000311822.8_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.G305D|RNF32_ENST00000343665.4_Missense_Mutation_p.G281D			Q9H0A6	RNF32_HUMAN	ring finger protein 32	305						aggresome|endosome	protein binding|zinc ion binding	p.G305D(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCTGCTGGCGGTCAGCGCGTG	0.657000													8	54					0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152759841	152759841	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:152759841C>T	ENST00000368770.3	+	2	119	c.66C>T	c.(64-66)ccC>ccT	p.P22P	LCE1E_ENST00000368771.1_Silent_p.P22P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	22	Cys-rich.				keratinization			p.P22P(2)		lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgccctcccaagtgTCCCA	0.622000													60	161					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47032551	47032551	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:47032551G>T	ENST00000377604.3	+	5	1199	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	RBM10_ENST00000345781.6_Missense_Mutation_p.G76C|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Missense_Mutation_p.G76C	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	153	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.G153C(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCAGTCGCACGGCGTGCAAGC	0.607000													29	42					9.04072e-19	1.22208e-18	1	1	0
ZAN	7455	broad.mit.edu	37	7	100373326	100373326	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:100373326C>A	ENST00000542585.1	+	0	6208				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.Q2021K(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCGCCATCTCCCAGATCCCTG	0.537000													4	44					5.18039e-06	5.66678e-06	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54586108	54586108	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:54586108C>A	ENST00000545554.1	+	10	3834	c.3834C>A	c.(3832-3834)tcC>tcA	p.S1278S	UNC13C_ENST00000260323.11_Silent_p.S1278S|UNC13C_ENST00000537900.1_Silent_p.S1276S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1278	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S1278S(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCATAACTCCACAGATCGAA	0.323000													35	61					7.53189e-24	1.09257e-23	1	1	0
LOC643711	643711	broad.mit.edu	37	12	98126388	98126388	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:98126388G>T	ENST00000550548.1	-	0	382					NR_077240.1																						TTCTCTCCTTGGGTGTTCCTC	0.478000													46	49					8.99859e-20	1.23688e-19	1	1	0
HOXC6	3223	broad.mit.edu	37	12	54423739	54423739	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:54423739A>C	ENST00000394331.3	+	3	2165	c.455A>C	c.(454-456)aAa>aCa	p.K152T	HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.K234T|HOXC5_ENST00000512206.1_Intron	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	234					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.K234T(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAGAAGCAGAAAGAGTGACCA	0.582000													2	3					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274539	51274539	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:51274539C>T	ENST00000270590.4	+	1	819	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	228						integral to plasma membrane	N-formyl peptide receptor activity	p.P228S(2)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTTCCTGGGGCCCTTAGCAAT	0.597000													11	28					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28906166	28906166	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:28906166C>A	ENST00000395503.4	+	12	1495	c.1311C>A	c.(1309-1311)gtC>gtA	p.V437V	ATP2A1_ENST00000536376.1_Silent_p.V312V|ATP2A1_ENST00000357084.3_Silent_p.V437V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	437					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.V437V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATGAGAAGGTCGGCGAGGCCA	0.572000													8	40					0.000157383	0.000167419	1	1	0
SLC22A16	85413	broad.mit.edu	37	6	110757068	110757068	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:110757068G>T	ENST00000368919.3	-	6	1474	c.1408C>A	c.(1408-1410)Cca>Aca	p.P470T	SLC22A16_ENST00000439654.1_Missense_Mutation_p.P470T|SLC22A16_ENST00000330550.4_Missense_Mutation_p.P436T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	470					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.P470T(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACAATGGTTGGATACAGCTCA	0.373000													70	168					1.16018e-38	1.92664e-38	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140985421	140985421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:140985421C>A	ENST00000544766.1	+	5	1510	c.983C>A	c.(982-984)tCa>tAa	p.S328*	MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.S328*|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.S328*|MAGEC3_ENST00000443323.2_Nonsense_Mutation_p.S248*|MAGEC3_ENST00000298296.1_Missense_Mutation_p.Q579K	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	44	MAGE 1.		A -> T (in dbSNP:rs176026).					p.Q579K(2)|p.S328*(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCCATTCAGAGGCCAGC	0.473000													108	59					1.62317e-47	2.85709e-47	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91131866	91131866	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:91131866G>T	ENST00000373094.1	+	2	1472	c.627G>T	c.(625-627)agG>agT	p.R209S	PCDH11X_ENST00000373097.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R209S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R209S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R209S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R209S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	209	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.R209S(6)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTTAGATAGGGAAGAGAAGG	0.403000													312	135					3.57644e-174	7.29197e-174	1	1	0
TMC1	117531	broad.mit.edu	37	9	75387409	75387409	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:75387409G>A	ENST00000297784.5	+	13	1362	c.822G>A	c.(820-822)ccG>ccA	p.P274P	TMC1_ENST00000396237.3_Silent_p.P274P|TMC1_ENST00000340019.3_Silent_p.P274P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	274					sensory perception of sound	integral to membrane		p.P274P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGGTTGCCGCTCTCCTATT	0.383000													303	869					0	0	1	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206927	142206927	+	RNA	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:142206927A>G	ENST00000426318.2	-	0	84																											CACAGCAGACAAAGGGCCACA	0.552000													31	111					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806131	1806131	+	Missense_Mutation	SNP	T	T	C	rs17881656	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:1806131T>C	ENST00000340107.4	+	9	1412	c.1156T>C	c.(1156-1158)Ttc>Ctc	p.F386L	FGFR3_ENST00000260795.2_Missense_Mutation_p.F384L|FGFR3_ENST00000440486.2_Missense_Mutation_p.F384L|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.F384L	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	384					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.F384L(2)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGTGGGCTTCTTCCTGTTCAT	0.652000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				3	22					0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56536304	56536304	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:56536304C>A	ENST00000245157.5	-	9	1425	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.Q335H	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	335					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.Q335H(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GGATCAGGTCCTGCTCTGCAC	0.522000									Bardet-Biedl syndrome				147	448					3.74121e-53	6.76367e-53	1	1	0
SELP	6403	broad.mit.edu	37	1	169566297	169566297	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:169566297A>T	ENST00000263686.6	-	11	1860	c.1823T>A	c.(1822-1824)cTg>cAg	p.L608Q	SELP_ENST00000367792.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.L546Q|SELP_ENST00000367788.2_Missense_Mutation_p.L546Q|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.L546Q|SELP_ENST00000367793.2_Missense_Mutation_p.L546Q	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	608	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.L608Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGGCCCCTCCAGCTTAAAGCC	0.483000													21	192					0	0	1	0	0
NUTM2A-AS1	728190	broad.mit.edu	37	10	88975783	88975783	+	RNA	SNP	C	C	T	rs28533204	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:88975783C>T	ENST00000451940.2	-	0	600																											CGCGGTCAGGCTGAGGCTAGC	0.597000													6	61					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901354	51901354	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:51901354G>T	ENST00000268919.4	+	1	1116	c.960G>T	c.(958-960)acG>acT	p.T320T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	320	Kinesin-motor.			T -> K (in Ref. 2; BAB71406).	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T320T(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTCAGGAACGGCCCAAGATT	0.522000													67	169					1.15074e-40	1.94618e-40	1	1	0
C1orf56	54964	broad.mit.edu	37	1	151020974	151020974	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:151020974C>A	ENST00000368926.5	+	1	759	c.651C>A	c.(649-651)acC>acA	p.T217T		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	217						extracellular region		p.T217T(2)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTCGGGCACCATGAGCCGGA	0.677000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	62					4.16121e-05	4.46539e-05	1	1	0
BAZ2B	29994	broad.mit.edu	37	2	160294973	160294973	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:160294973C>A	ENST00000392783.2	-	8	1629	c.1134G>T	c.(1132-1134)acG>acT	p.T378T	BAZ2B_ENST00000392782.1_Silent_p.T376T|BAZ2B_ENST00000355831.2_Silent_p.T378T|BAZ2B_ENST00000343439.5_Silent_p.T376T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.T378T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACACCAATCCCGTAGACTGTA	0.408000													24	143					4.43304e-23	6.31815e-23	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56369712	56369712	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:56369712C>A	ENST00000301295.6	+	3	1375	c.953C>A	c.(952-954)cCg>cAg	p.P318Q	NLRP4_ENST00000587891.1_Missense_Mutation_p.P243Q|NLRP4_ENST00000346986.5_Missense_Mutation_p.P318Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	318	NACHT.						ATP binding	p.P318Q(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCAAAGACCCGAAAAGAGCC	0.483000													36	39					3.33393e-15	4.29317e-15	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82447508	82447508	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:82447508G>T	ENST00000370728.1	+	21	3763	c.3118G>T	c.(3118-3120)Gct>Tct	p.A1040S	LPHN2_ENST00000359929.3_Missense_Mutation_p.A1027S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.A965S|LPHN2_ENST00000394879.1_Missense_Mutation_p.A1042S|LPHN2_ENST00000370723.1_Missense_Mutation_p.A1042S|LPHN2_ENST00000370725.1_Missense_Mutation_p.A1055S|LPHN2_ENST00000370717.2_Missense_Mutation_p.A1055S|LPHN2_ENST00000370727.1_Missense_Mutation_p.A1055S|LPHN2_ENST00000319517.6_Missense_Mutation_p.A1027S|LPHN2_ENST00000335786.5_Missense_Mutation_p.A1040S|LPHN2_ENST00000370713.1_Missense_Mutation_p.A1027S|LPHN2_ENST00000370730.1_Missense_Mutation_p.A1040S|LPHN2_ENST00000271029.4_Missense_Mutation_p.A1055S|LPHN2_ENST00000370715.1_Missense_Mutation_p.A1027S			O95490	LPHN2_HUMAN	latrophilin 2	1040					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.A1027S(1)|p.A1055S(1)|p.A1027T(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGTGCTTGGCGCTTTCGCTCT	0.383000													151	411					2.23556e-87	4.41103e-87	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136590641	136590641	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:136590641C>A	ENST00000531224.1	-	9	2405	c.2153G>T	c.(2152-2154)aGt>aTt	p.S718I	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S716I|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S716I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S545I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S718I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S716I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	718					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S718I(2)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTGATCCACTGGATTCCCT	0.403000													18	104					2.89027e-11	3.45514e-11	1	1	0
NCAPG2	54892	broad.mit.edu	37	7	158494630	158494630	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:158494630C>A	ENST00000409339.3	-	2	75		c.e2-1		NCAPG2_ENST00000449727.2_Splice_Site|NCAPG2_ENST00000409423.1_Splice_Site|NCAPG2_ENST00000356309.3_Splice_Site			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2						cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TTTTGTAACCCTAATGGAAAA	0.358000													7	15					0.00198382	0.0020713	1	1	0
CXCL6	6372	broad.mit.edu	37	4	74702735	74702735	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:74702735C>T	ENST00000226317.5	+	2	418	c.164C>T	c.(163-165)aCg>aTg	p.T55M	CXCL6_ENST00000515050.1_Missense_Mutation_p.T55M	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	55					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	p.T55M(2)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTACGCGTTACGCTGAGAGTA	0.527000													43	116					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32525054	32525054	+	Missense_Mutation	SNP	G	G	A	rs148623159		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:32525054G>A	ENST00000286827.3	-	20	3737	c.3266C>T	c.(3265-3267)aCg>aTg	p.T1089M	TIAM1_ENST00000541036.1_Missense_Mutation_p.T1029M	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1089	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.T1089M(6)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TACCATTTCCGTTAAATTTCC	0.333000													24	109					0	0	1	0	0
MYOG	4656	broad.mit.edu	37	1	203053128	203053128	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:203053128G>T	ENST00000241651.4	-	3	659	c.585C>A	c.(583-585)gcC>gcA	p.A195A		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	195					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.A195A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						GCAGGTTGTGGGCATCTGTAG	0.552000													4	13					0.00909568	0.00924685	1	1	0
MUC17	140453	broad.mit.edu	37	7	100683947	100683947	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:100683947A>G	ENST00000306151.4	+	3	9314	c.9250A>G	c.(9250-9252)Agt>Ggt	p.S3084G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3084	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3084G(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACTGAAGTCAGTTCATCTCC	0.507000													89	368					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179567349	179567349	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:179567349C>A	ENST00000589042.1	-	107	30489	c.30265G>T	c.(30265-30267)Gtg>Ttg	p.V10089L	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V8845L|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V9772L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9772	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V8845L(2)		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)			TGCTCACTCACCACGATGTTC	0.403000													88	196					6.65942e-36	1.08142e-35	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121652315	121652315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:121652315C>A	ENST00000393386.2	+	12	3626	c.3215C>A	c.(3214-3216)cCc>cAc	p.P1072H	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1072					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P1072H(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACAGTCATGCCCAACATGTAT	0.388000													90	196					2.70572e-37	4.45291e-37	1	1	0
TIGD4	201798	broad.mit.edu	37	4	153692094	153692094	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:153692094T>C	ENST00000304337.2	-	2	883	c.63A>G	c.(61-63)ctA>ctG	p.L21L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	21	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.L21L(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CCTCAATGGATAGGCTTTTCT	0.388000													45	101					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15430314	15430314	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:15430314A>T	ENST00000342526.3	-	8	973	c.804T>A	c.(802-804)ttT>ttA	p.F268L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	268					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.F268L(2)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TGATTGGTTCAAATGTATTAA	0.289000													8	65					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57611039	57611039	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:57611039G>T	ENST00000371236.2	-	3	394	c.131C>A	c.(130-132)gCc>gAc	p.A44D	DAB1_ENST00000439789.2_Missense_Mutation_p.A44D|DAB1_ENST00000371234.4_Missense_Mutation_p.A44D|DAB1_ENST00000371230.1_Missense_Mutation_p.A44D|DAB1_ENST00000371231.1_Missense_Mutation_p.A44D|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.A44D|DAB1_ENST00000414851.2_Missense_Mutation_p.A44D			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	44	PID.				cell differentiation|nervous system development			p.A44D(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GATCAATTTGGCTTTGTACCG	0.418000													55	146					3.00467e-41	5.1289e-41	1	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735298	55735298	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:55735298G>A	ENST00000312345.2	-	1	692	c.642C>T	c.(640-642)tcC>tcT	p.S214S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S214S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCAAAATGTTGGAGATAATTT	0.393000													18	73					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605833	58605833	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:58605833G>T	ENST00000287275.1	-	3	477	c.87C>A	c.(85-87)ggC>ggA	p.G29G	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.G29G	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	29						mitochondrion	glycine N-acyltransferase activity	p.G29G(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGAAAATGGCGCCATATACCT	0.418000													24	79					7.92952e-12	9.54142e-12	1	1	0
LRRC8D	55144	broad.mit.edu	37	1	90399760	90399760	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:90399760T>G	ENST00000337338.5	+	3	1540	c.1133T>G	c.(1132-1134)tTt>tGt	p.F378C	LRRC8D_ENST00000394593.3_Missense_Mutation_p.F378C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	378						integral to membrane	protein binding	p.F378C(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTTTATGGCTTTATCTGCCTC	0.368000													38	258					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626742	49626742	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:49626742C>A	ENST00000371571.4	-	2	419	c.134G>T	c.(133-135)cGg>cTg	p.R45L	KCNG1_ENST00000396017.3_Missense_Mutation_p.R45L	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	45						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R45L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGGCCGCAGCCGCTGCGCCCG	0.706000													8	5					0.0581538	0.0587137	1	1	0
HPS3	84343	broad.mit.edu	37	3	148863150	148863150	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:148863150C>G	ENST00000296051.2	+	5	1120	c.980C>G	c.(979-981)aCa>aGa	p.T327R	HPS3_ENST00000460120.1_Missense_Mutation_p.T162R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	327						cytoplasm		p.T327R(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGTTCTCTTACATCTGATGGA	0.343000									Hermansky-Pudlak syndrome				26	108					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43980795	43980795	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:43980795A>G	ENST00000282406.4	+	25	3801	c.3691A>G	c.(3691-3693)Aga>Gga	p.R1231G		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1231	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding	p.R1231G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGAGACTGATAGAGAAAAGTT	0.308000													27	143					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145657761	145657761	+	Silent	SNP	G	G	A	rs34599999	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:145657761G>A	ENST00000409379.3	-	23	3671	c.3642C>T	c.(3640-3642)ccC>ccT	p.P1214P		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1214					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	p.P1214P(1)|p.P1055P(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGGTGCCGGCGGGCAGGCTCT	0.647000													3	18					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737419	157737419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:157737419C>T	ENST00000469986.1	-	1	145	c.5G>A	c.(4-6)tGg>tAg	p.W2*	FCRL2_ENST00000392274.3_Intron|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000361516.3_Intron			Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	0					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTCCATTCCCACATTCCCAC	0.443000													92	397					0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27062220	27062220	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:27062220C>A	ENST00000480456.1	+	3	726	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	JAM2_ENST00000425221.2_Intron|JAM2_ENST00000312957.5_Missense_Mutation_p.S59Y|JAM2_ENST00000400532.1_Missense_Mutation_p.S59Y	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	59	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.S59Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACTGTTTCCTCCAGATTAGAG	0.403000													41	97					2.24722e-20	3.12398e-20	1	1	0
HOXA5	3202	broad.mit.edu	37	7	27181480	27181480	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:27181480C>A	ENST00000222726.3	-	2	847	c.787G>T	c.(787-789)Gcg>Tcg	p.A263S	HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA5_ENST00000520854.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	263					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A263S(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CCTCCTGCCGCGGCCATGCTC	0.468000											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	33					0.00829132	0.00852357	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76023009	76023009	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:76023009C>A	ENST00000393004.2	-	5	2760	c.2539G>T	c.(2539-2541)Gtg>Ttg	p.V847L	FILIP1_ENST00000370020.1_Missense_Mutation_p.V748L|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.V847L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	847								p.V847L(2)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GATCTTTCCACGGGTTTCTTC	0.453000													143	356					4.19481e-77	8.16709e-77	1	1	0
SLC16A1	6566	broad.mit.edu	37	1	113456702	113456702	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:113456702G>A	ENST00000538576.1	-	5	2145	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	SLC16A1_ENST00000369626.3_Silent_p.F438F	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	438					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.F438F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CCATGCCAATGAAGAGATAGA	0.398000													53	125					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21355423	21355423	+	Splice_Site	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:21355423A>C	ENST00000256958.2	+	10	1231		c.e10-1			NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTTTTTTCTAGGAGTCATAA	0.269000													13	21					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102378993	102378993	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:102378993T>G	ENST00000376131.4	-	4	686	c.591A>C	c.(589-591)ccA>ccC	p.P197P	FGF14_ENST00000376143.4_Silent_p.P192P	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	192					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.P192P(2)|p.P197P(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATGAGCTGCTGGTTTGGTTT	0.363000													28	75					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26721658	26721658	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:26721658C>G	ENST00000380573.3	-	2	1852	c.829G>C	c.(829-831)Gtg>Ctg	p.V277L	ADRA1A_ENST00000380582.3_Missense_Mutation_p.V277L|ADRA1A_ENST00000358857.5_Missense_Mutation_p.V277L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V277L|ADRA1A_ENST00000276393.4_Missense_Mutation_p.V277L|ADRA1A_ENST00000380587.1_Missense_Mutation_p.V277L|ADRA1A_ENST00000380581.2_Missense_Mutation_p.V277L|ADRA1A_ENST00000519229.1_Missense_Mutation_p.V277L|ADRA1A_ENST00000380572.3_Missense_Mutation_p.V277L|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V277L			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	277					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.V277L(10)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CAGCCGACCACGATGCCCAGC	0.572000													4	18					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118896117	118896117	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:118896117G>A	ENST00000277905.2	-	2	539	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	VAX1_ENST00000369206.5_Missense_Mutation_p.R99W	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	99						nucleus	sequence-specific DNA binding	p.R99W(4)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CTCTTAGGCCGGTCCAAGTCC	0.657000													6	33					0	0	1	0	0
FAM21EP	100421577	broad.mit.edu	37	10	51821252	51821252	+	RNA	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:51821252C>T	ENST00000456967.1	-	0	1382					NR_038275.1																						TCATCCTCATCATCAAAGAGC	0.557000													36	61					0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185106753	185106753	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:185106753C>G	ENST00000367504.3	-	10	1769	c.1030G>C	c.(1030-1032)Ggt>Cgt	p.G344R	TRMT1L_ENST00000367506.5_Missense_Mutation_p.G500R			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	500						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	p.G500R(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCATATTACCATCCTTCTGA	0.348000													25	267					0	0	1	0	0
SNORD115-42	100033816	broad.mit.edu	37	15	25492500	25492500	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:25492500G>T	ENST00000364273.1	+	0	9					NR_003357.1																						TTGGGTCGATGATGAGAACCT	0.512000													35	97					1.5731e-28	2.39059e-28	1	1	0
MYH6	4624	broad.mit.edu	37	14	23866764	23866764	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:23866764C>A	ENST00000405093.3	-	16	2020	c.1950G>T	c.(1948-1950)tcG>tcT	p.S650S	MYH6_ENST00000356287.3_Silent_p.S650S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	650	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.S650S(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTGGAGAGCCGACACCGTCT	0.542000													33	64					4.14481e-20	5.71859e-20	1	1	0
USO1	8615	broad.mit.edu	37	4	76714849	76714849	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:76714849G>T	ENST00000538159.1	+	13	1253	c.1253G>T	c.(1252-1254)gGt>gTt	p.G418V	USO1_ENST00000514213.2_Missense_Mutation_p.G401V			O60763	USO1_HUMAN	USO1 vesicle transport factor	416	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	p.G418V(2)|p.G344V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTAGCAACAGGTAATTCAGTT	0.368000													4	20					1.23904e-05	1.34138e-05	1	1	0
LRP1B	53353	broad.mit.edu	37	2	142567892	142567892	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:142567892C>T	ENST00000389484.3	-	2	1132	c.161G>A	c.(160-162)gGg>gAg	p.G54E	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	54	LDL-receptor class A 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G54E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCAGGGTCCCCATCACACAG	0.443000										TSP Lung(27;0.18)			23	130					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171509600	171509600	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:171509600C>A	ENST00000334231.6	+	35	4022	c.4022C>A	c.(4021-4023)tCc>tAc	p.S1341Y	MYO3B_ENST00000409044.3_Missense_Mutation_p.S1305Y|MYO3B_ENST00000408978.4_Missense_Mutation_p.S1332Y|AC007277.3_ENST00000428156.1_RNA|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1332					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.S1332Y(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTTTCTTCATCCTCAAAAGGA	0.418000													28	185					1.7881e-09	2.04753e-09	1	1	0
DRD5	1816	broad.mit.edu	37	4	9784629	9784629	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:9784629C>A	ENST00000304374.2	+	1	1372	c.976C>A	c.(976-978)Ccc>Acc	p.P326T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	326					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.P326T(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGTGGACACCCCGAAGGCCC	0.587000													32	71					1.58521e-26	2.34585e-26	1	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138768597	138768597	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:138768597G>A	ENST00000242351.5	-	3	942	c.626C>T	c.(625-627)cCc>cTc	p.P209L	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P209L|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P209L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	209					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.P209L(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GACCACGTCGGGGTTCAGCCC	0.547000													36	128					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857151	90857151	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:90857151A>T	ENST00000394980.1	+	7	2639	c.2320A>T	c.(2320-2322)Aca>Tca	p.T774S	MMRN1_ENST00000508372.1_Missense_Mutation_p.T516S|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.T774S			Q13201	MMRN1_HUMAN	multimerin 1	774					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.T774S(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AACTATTTTGACATTTATTCC	0.353000													39	90					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886823	23886823	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:23886823C>A	ENST00000355349.3	-	31	4404	c.4242G>T	c.(4240-4242)ctG>ctT	p.L1414L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1414			L -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1415*(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGTCTTCTCCAGCGAGGAGC	0.612000													29	67					6.84511e-11	8.10373e-11	1	1	0
LY9	4063	broad.mit.edu	37	1	160784485	160784485	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:160784485C>A	ENST00000368040.1	+	0	1056				LY9_ENST00000368035.1_De_novo_Start_OutOfFrame|LY9_ENST00000368041.2_Missense_Mutation_p.H296N|LY9_ENST00000263285.5_Missense_Mutation_p.H336N|LY9_ENST00000341032.4_Missense_Mutation_p.H336N			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.H336N(2)		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)			CGGCCCCTACCATGCCTACGT	0.572000													51	95					1.53582e-20	2.14315e-20	1	1	0
FMNL3	91010	broad.mit.edu	37	12	50045837	50045837	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:50045837C>G	ENST00000335154.5	-	14	1715	c.1482G>C	c.(1480-1482)ctG>ctC	p.L494L	FMNL3_ENST00000293590.5_Silent_p.L494L|FMNL3_ENST00000550488.1_Silent_p.L494L|FMNL3_ENST00000352151.5_Silent_p.L443L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	494					actin cytoskeleton organization		actin binding|Rho GTPase binding	p.L494L(4)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGCCCTCACTCAGCTCTGCAG	0.652000													13	11					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62304305	62304305	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:62304305C>A	ENST00000261517.5	-	12	957		c.e12+1		VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization			p.?(4)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTATTACTTACTGTATTGATA	0.244000													15	28					2.4624e-09	2.81088e-09	1	1	0
GOLGA6L1	283767	broad.mit.edu	37	15	22742719	22742719	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:22742719G>T	ENST00000316397.3	+	8	1195	c.1104G>T	c.(1102-1104)ctG>ctT	p.L368L	GOLGA6L1_ENST00000560659.2_Silent_p.L318L	NM_001001413.3|NM_001271664.1	NP_001001413.3|NP_001258593.1			golgin A6 family-like 1									p.L368L(1)		NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						TGCGGAGGCTGGAGGAGATGA	0.562000													2	3					1	1	1	1	0
DHX30	22907	broad.mit.edu	37	3	47882439	47882439	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:47882439G>T	ENST00000446256.2	+	8	894	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	DHX30_ENST00000457607.1_Missense_Mutation_p.G175C|DHX30_ENST00000348968.4_Missense_Mutation_p.G119C|DHX30_ENST00000445061.1_Missense_Mutation_p.G147C	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	147	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.G147C(2)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGATCGCTTTGGCTCCCCTGC	0.602000													6	7					1.6384e-10	1.918e-10	1	1	0
SPPL2C	162540	broad.mit.edu	37	17	43922293	43922293	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:43922293C>T	ENST00000329196.5	+	1	38	c.21C>T	c.(19-21)ctC>ctT	p.L7L	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	7						integral to membrane	aspartic-type endopeptidase activity	p.L7L(2)									TGGGCTTCCTCCTCCCCGTGG	0.627000													20	62					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192299	132192299	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:132192299C>A	ENST00000359827.3	-	2	2116	c.1154G>T	c.(1153-1155)tGg>tTg	p.W385L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.W385L|PLXNA4_ENST00000378539.5_Missense_Mutation_p.W385L|PLXNA4_ENST00000423507.2_Missense_Mutation_p.W385L			Q9HCM2	PLXA4_HUMAN	plexin A4	385	Sema.					integral to membrane|intracellular|plasma membrane		p.W385L(8)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACCTTGAGCCAGGCCAGGTC	0.602000													32	95					2.38352e-08	2.69154e-08	1	1	0
TRPV4	59341	broad.mit.edu	37	12	110232179	110232179	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:110232179C>A	ENST00000418703.2	-	7	1540	c.1446G>T	c.(1444-1446)atG>atT	p.M482I	TRPV4_ENST00000541794.1_Missense_Mutation_p.M435I|TRPV4_ENST00000536838.1_Missense_Mutation_p.M448I|TRPV4_ENST00000537083.1_Missense_Mutation_p.M422I|TRPV4_ENST00000544971.1_Missense_Mutation_p.M375I|TRPV4_ENST00000261740.2_Missense_Mutation_p.M482I|TRPV4_ENST00000346520.2_Missense_Mutation_p.M422I|TRPV4_ENST00000392719.2_Missense_Mutation_p.M435I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	482					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.M482I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGAAGATGACCATGGCACACA	0.632000													66	44					1.77791e-30	2.74734e-30	1	1	0
TIGD2	166815	broad.mit.edu	37	4	90034726	90034726	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:90034726G>T	ENST00000317005.2	+	1	759	c.601G>T	c.(601-603)Ggg>Tgg	p.G201W		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	201	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.G201W(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAGTACTTCTGGGTGTAGGTC	0.408000													17	49					4.63292e-17	6.12715e-17	1	1	0
CES5A	221223	broad.mit.edu	37	16	55880525	55880525	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:55880525G>T	ENST00000521992.1	-	14	1798	c.1653C>A	c.(1651-1653)gaC>gaA	p.D551E	CES5A_ENST00000518005.1_Missense_Mutation_p.D416E|CES5A_ENST00000520435.1_Missense_Mutation_p.D492E|CES5A_ENST00000319165.9_Missense_Mutation_p.D472E|CES5A_ENST00000290567.9_Missense_Mutation_p.D522E|CES5A_ENST00000541580.1_5'UTR	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	522						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.D551E(2)|p.D472E(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCATGTTCAAGTCCAGCTGGA	0.537000													576	869					8.26545e-216	1.69465e-215	1	1	0
ASIC1	41	broad.mit.edu	37	12	50472204	50472204	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:50472204C>A	ENST00000228468.4	+	6	1223	c.837_splice	c.e6-1	p.L280_splice	ASIC1_ENST00000552438.1_Splice_Site_p.L314_splice|ASIC1_ENST00000447966.2_Splice_Site_p.L280_splice	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	280					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.L280I(2)								Amiloride(DB00594)	CTCCCAGCAGCTCATCTACCT	0.582000													23	32					3.01185e-09	3.42744e-09	1	1	0
ROCK1	6093	broad.mit.edu	37	18	18622649	18622649	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:18622649T>C	ENST00000399799.1	-	7	1637	c.697A>G	c.(697-699)Aca>Gca	p.T233A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	233	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.T233A(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CCAACCGCTGTATCACATCGT	0.378000													65	162					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746032	37746032	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:37746032A>T	ENST00000539465.1	+	16	4596	c.4003A>T	c.(4003-4005)Agc>Tgc	p.S1335C	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1335C|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1335						cytoskeleton|cytosol|plasma membrane		p.S1335C(2)		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)		GGACCAGTGCAGCTGTCAGTT	0.577000													29	153					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378101	138378101	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:138378101T>G	ENST00000356818.2	+	4	2294	c.1745T>G	c.(1744-1746)cTc>cGc	p.L582R	PPP1R26_ENST00000604351.1_Missense_Mutation_p.L582R|PPP1R26_ENST00000605660.1_Missense_Mutation_p.L582R|PPP1R26_ENST00000401470.3_Missense_Mutation_p.L582R|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.L582R	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	582						nucleolus	protein binding	p.L582R(2)									AAGACCCCTCTCTCTAAAACA	0.612000													7	10					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053457	238053457	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:238053457G>T	ENST00000366570.4	-	2	353	c.195C>A	c.(193-195)caC>caA	p.H65Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	65					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.H65Q(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTGCAGCTCGTGCAGCAGCC	0.552000													31	81					4.3181e-19	5.90221e-19	1	1	0
C1orf52	148423	broad.mit.edu	37	1	85725280	85725280	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:85725280C>A	ENST00000471115.1	-	1	45	c.37G>T	c.(37-39)Gcg>Tcg	p.A13S	C1orf52_ENST00000294661.4_5'UTR|C1orf52_ENST00000344356.5_Missense_Mutation_p.A13S	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	13								p.A13S(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCGTATGCCGCAAAATAGCTC	0.652000											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	2					1	1	1	1	0
OR5H1	26341	broad.mit.edu	37	3	97851886	97851886	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:97851886G>T	ENST00000354565.2	+	1	345	c.345G>T	c.(343-345)ttG>ttT	p.L115F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L115F(2)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTTTTCTCTTGGCAACGATGG	0.383000													203	589					6.70374e-117	1.34809e-116	1	1	0
IGFLR1	79713	broad.mit.edu	37	19	36230498	36230498	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:36230498A>G	ENST00000592537.1	-	5	851	c.751T>C	c.(751-753)Tct>Cct	p.S251P	IGFLR1_ENST00000246532.1_Missense_Mutation_p.S251P|IGFLR1_ENST00000588992.1_Missense_Mutation_p.S83P|IGFLR1_ENST00000592889.1_Missense_Mutation_p.S63P|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000344990.3_Missense_Mutation_p.S63P			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	251						integral to membrane|plasma membrane	protein binding|receptor activity	p.S251P(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AGGAGGCGAGACAGGGGTTGT	0.627000													11	15					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873373	91873373	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:91873373C>A	ENST00000373094.1	+	7	4323	c.3478C>A	c.(3478-3480)Cat>Aat	p.H1160N	PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1150N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1152N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1142N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1123N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1123N|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1160					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.H1160N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCTCTGGATCATTCCAGCTC	0.542000													129	71					1.66253e-42	2.86455e-42	1	1	0
LINGO1	84894	broad.mit.edu	37	15	77907260	77907260	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:77907260G>T	ENST00000355300.6	-	2	1163	c.989C>A	c.(988-990)gCc>gAc	p.A330D	LINGO1_ENST00000561030.1_Missense_Mutation_p.A324D	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	330					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		p.A324D(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCCGCGGAAGGCATAGGGCTC	0.617000													7	11					3.09899e-07	3.45168e-07	1	1	0
SUCO	51430	broad.mit.edu	37	1	172558355	172558355	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:172558355G>T	ENST00000367723.3	+	17	2694	c.2570G>T	c.(2569-2571)aGt>aTt	p.S857I	SUCO_ENST00000263688.3_Missense_Mutation_p.S705I	NM_016227.2	NP_057311.2			SUN domain containing ossification factor									p.S705I(2)|p.S857I(2)									TTAAGTAGTAGTATGCACCAG	0.388000													181	281					1.20597e-116	2.41854e-116	1	1	0
DGKI	9162	broad.mit.edu	37	7	137172361	137172361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:137172361G>A	ENST00000453654.1	-	23	2016	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	DGKI_ENST00000288490.5_Nonsense_Mutation_p.Q793*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.Q796*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.Q775*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	793	DAGKc.				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	p.Q793*(4)|p.Q793E(2)		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						CTCACCTCCTGTAGGCGGTCT	0.388000													92	379					0	0	1	0	0
SSU72	29101	broad.mit.edu	37	1	1500240	1500240	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:1500240C>T	ENST00000359060.4	-	2	163	c.137G>A	c.(136-138)gGa>gAa	p.G46E	SSU72_ENST00000291386.3_Missense_Mutation_p.G46E			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	46					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	p.G46E(2)		large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGGAGCTGGTCCTGGAAGCTT	0.458000													4	48					0	0	1	0	0
TRADD	8717	broad.mit.edu	37	16	67190465	67190465	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:67190465C>A	ENST00000345057.4	-	2	567	c.99G>T	c.(97-99)gcG>gcT	p.A33A	TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	33					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	p.A33A(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCTGGGGGTGCGCGTAGGCAT	0.632000											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	32					0.00010058	0.000107461	1	1	0
KIAA1210	57481	broad.mit.edu	37	X	118284406	118284406	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:118284406C>A	ENST00000402510.2	-	1	136	c.137G>T	c.(136-138)tGt>tTt	p.C46F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	46								p.C46F(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACAACTGCAACAGCCTTGGGA	0.572000													44	30					1.42923e-14	1.81812e-14	1	1	0
GPR31	2853	broad.mit.edu	37	6	167571250	167571250	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:167571250C>G	ENST00000366834.1	-	1	567	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	24						integral to plasma membrane	G-protein coupled receptor activity	p.E24Q(2)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGCCCACACTCCAGCCCCAGC	0.657000													22	40					0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137715045	137715045	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:137715045C>G	ENST00000315930.6	-	5	1365	c.704G>C	c.(703-705)gGa>gCa	p.G235A	FGF13_ENST00000441825.2_Missense_Mutation_p.G216A|FGF13_ENST00000305414.4_Missense_Mutation_p.G182A|FGF13_ENST00000541469.1_Missense_Mutation_p.G189A|FGF13_ENST00000370603.3_Missense_Mutation_p.G245A	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	235					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.G182A(2)|p.G235A(2)|p.G245A(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGATTTGCCTCCGTTCAGCAC	0.527000													366	191					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648571	169648571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:169648571G>A	ENST00000366787.3	-	4	799	c.550C>T	c.(550-552)Cag>Tag	p.Q184*		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	184	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.Q184*(2)		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)		TTTTCCGCCTGCAGGTGCTCG	0.617000													52	108					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48504417	48504417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:48504417G>T	ENST00000417961.1	+	16	1948	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*	SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000541138.1_Nonsense_Mutation_p.E264*|SLC9A8_ENST00000539601.1_Nonsense_Mutation_p.E345*|SLC9A8_ENST00000361573.2_Nonsense_Mutation_p.E564*	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	564						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	p.E564*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CAAGTGGTACGAGGAGGTACG	0.657000													52	69					5.73332e-34	9.20843e-34	1	1	0
BAI3	577	broad.mit.edu	37	6	69759227	69759227	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:69759227G>T	ENST00000370598.1	+	15	3143	c.2322G>T	c.(2320-2322)ttG>ttT	p.L774F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	774					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L774F(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCTAATTTTGCCCACTTTGA	0.289000													24	73					2.46105e-21	3.46056e-21	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118468880	118468880	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:118468880G>T	ENST00000311085.8	+	11	1449	c.1369G>T	c.(1369-1371)Ggc>Tgc	p.G457C	DMXL1_ENST00000539542.1_Missense_Mutation_p.G457C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	457								p.G457C(2)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAAGGAATTAGGCTGTGATAA	0.343000													62	100					3.37043e-27	5.02824e-27	1	1	0
PPFIA2	8499	broad.mit.edu	37	12	81676789	81676789	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:81676789C>A	ENST00000550584.2	-	25	3313	c.3018_splice	c.e25+1	p.Q1006_splice	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Splice_Site_p.Q991_splice|PPFIA2_ENST00000333447.7_Splice_Site_p.Q991_splice|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000548586.1_Splice_Site_p.Q1006_splice|PPFIA2_ENST00000550359.2_Splice_Site_p.Q853_splice|PPFIA2_ENST00000552948.1_Splice_Site_p.Q985_splice|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Splice_Site_p.Q1006_splice|PPFIA2_ENST00000443686.3_Splice_Site_p.Q907_splice|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000407050.4_Splice_Site_p.Q911_splice	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	910								p.Q1006H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AATCTCCTACCTGGGCCCAGC	0.318000													41	42					7.02699e-11	8.30565e-11	1	1	0
B3GALT1	8708	broad.mit.edu	37	2	168726315	168726315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:168726315C>A	ENST00000305861.1	+	2	1117	c.766C>A	c.(766-768)Ctc>Atc	p.L256I	B3GALT1_ENST00000392690.2_Missense_Mutation_p.L256I|AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	256					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.L256I(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAAGACCTCACTCCACACAAG	0.488000													69	172					3.54697e-40	5.97127e-40	1	1	0
CHST9	83539	broad.mit.edu	37	18	24604116	24604116	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:24604116C>T	ENST00000284224.8	-	4	443	c.166G>A	c.(166-168)Gga>Aga	p.G56R	CHST9_ENST00000580774.1_Missense_Mutation_p.G56R|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.G56R	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	56					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.G56R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTCACTGGTCCCCATCCTGAA	0.378000													50	105					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145401	25145401	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr22:25145401G>A	ENST00000332271.5	-	11	1720	c.1304C>T	c.(1303-1305)aCa>aTa	p.T435I	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.T326I|PIWIL3_ENST00000533313.1_Missense_Mutation_p.T326I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	435					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.T435I(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCTTTTAATGTATGATGCCT	0.363000													76	207					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885793	180885793	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:180885793C>T	ENST00000367588.4	+	2	609	c.554C>T	c.(553-555)cCg>cTg	p.P185L		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	185								p.P185L(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGGGGGAGCCCGTGGCCTCCA	0.642000													15	23					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639359	18639359	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:18639359A>C	ENST00000380548.4	+	7	1123	c.784A>C	c.(784-786)Aaa>Caa	p.K262Q	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.K262Q|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.K262Q|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.K262Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	262						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.K262Q(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATTTCCAGACAAAGAGATACT	0.443000													40	144					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7805036	7805036	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:7805036A>G	ENST00000303635.7	+	17	4531	c.4324A>G	c.(4324-4326)Agt>Ggt	p.S1442G	CAMTA1_ENST00000476864.1_Missense_Mutation_p.S6G|CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1442G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S1442G(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGGCTGGCCAGTTATCTAGC	0.517000			T	WWTR1	epitheliod hemangioendothelioma								39	123					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076322	87076322	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:87076322C>A	ENST00000276616.2	-	2	798	c.724G>T	c.(724-726)Gca>Tca	p.A242S	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	242	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.A242S(2)		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)			ATGTCCACTGCACTGGTATAA	0.463000													20	63					1.50039e-11	1.79655e-11	1	1	0
FRMD3	257019	broad.mit.edu	37	9	85905627	85905627	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:85905627C>G	ENST00000304195.3	-	13	1292	c.1086G>C	c.(1084-1086)caG>caC	p.Q362H	FRMD3_ENST00000376434.1_Missense_Mutation_p.Q168H|FRMD3_ENST00000376438.1_Missense_Mutation_p.Q362H	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	362						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.Q362H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AACTGCGGCTCTGAGTAATGT	0.527000													38	104					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47685848	47685848	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:47685848G>A	ENST00000273857.4	-	7	920	c.921C>T	c.(919-921)agC>agT	p.S307S	CORIN_ENST00000502252.1_Silent_p.S240S|CORIN_ENST00000504584.1_Silent_p.S307S|CORIN_ENST00000508498.1_Silent_p.S168S|CORIN_ENST00000505909.1_Silent_p.S307S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	307	LDL-receptor class A 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.S307S(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACAGATTCTCGCTGCAGTCTG	0.428000													38	126					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412420	105412420	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:105412420G>C	ENST00000333244.5	-	7	9487	c.9368C>G	c.(9367-9369)gCa>gGa	p.A3123G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3123						nucleus		p.A3123G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCAGCCGTGCACCATCCAA	0.617000													4	65					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28209990	28209990	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:28209990G>A	ENST00000284984.2	-	9	3266	c.2812C>T	c.(2812-2814)Cat>Tat	p.H938Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	938	TSP type-1 3.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.H938Y(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCTCCATCATGGGACAGACAC	0.458000													26	78					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	40999785	40999785	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:40999785G>C	ENST00000399564.4	-	40	5029	c.4579C>G	c.(4579-4581)Ctc>Gtc	p.L1527V	MROH2B_ENST00000506092.2_Missense_Mutation_p.L1082V	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L1527V(2)									TCACCTGTGAGTTTGACAGCT	0.483000													91	156					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227219083	227219083	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:227219083T>G	ENST00000366769.3	-	27	4877	c.3586A>C	c.(3586-3588)Aga>Cga	p.R1196R	CDC42BPA_ENST00000366765.3_Silent_p.R1209R|CDC42BPA_ENST00000535525.1_Silent_p.R1176R|CDC42BPA_ENST00000366766.2_Silent_p.R1231R|CDC42BPA_ENST00000334218.5_Silent_p.R1196R|CDC42BPA_ENST00000366767.3_Silent_p.R1115R|CDC42BPA_ENST00000366764.2_Silent_p.R1168R	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1209	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R1231R(2)|p.R1115R(2)|p.R1196R(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGCGGTCTCTGAATTTGTTT	0.418000													178	272					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566456	142566456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:142566456G>T	ENST00000392957.2	+	15	3032	c.2245G>T	c.(2245-2247)Gag>Tag	p.E749*	EPHB6_ENST00000411471.2_Nonsense_Mutation_p.E472*|EPHB6_ENST00000442129.1_Nonsense_Mutation_p.E749*	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	749	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.E734*(2)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGTGCTGACGGAGTTCATGGA	0.647000													11	59					1.61879e-10	1.89807e-10	1	1	0
TRO	7216	broad.mit.edu	37	X	54955191	54955191	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:54955191G>T	ENST00000173898.7	+	12	2146	c.2034G>T	c.(2032-2034)tgG>tgT	p.W678C	TRO_ENST00000375041.2_Missense_Mutation_p.W281C|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.W209C	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	678					embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.W678C(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ctgggccctggaattgggATG	0.552000													17	21					2.48551e-13	3.0869e-13	1	1	0
ALG12	79087	broad.mit.edu	37	22	50304192	50304192	+	Missense_Mutation	SNP	C	C	T	rs117687848	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr22:50304192C>T	ENST00000330817.5	-	4	632	c.359G>A	c.(358-360)cGg>cAg	p.R120Q		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	120					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		p.R120Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCGAAGTGCCGTCTCACTTC	0.557000													4	38					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25261485	25261485	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:25261485G>T	ENST00000395990.2	-	17	2285	c.2028C>A	c.(2026-2028)tcC>tcA	p.S676S	CASC1_ENST00000320267.9_Silent_p.S716S|CASC1_ENST00000354189.5_3'UTR|CASC1_ENST00000395987.3_Silent_p.S722S|CASC1_ENST00000537577.1_3'UTR|CASC1_ENST00000545133.1_Silent_p.S657S	NM_001204102.1	NP_001191031.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	716								p.S722S(2)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTGGAGGTTAGGAGTAGCTGA	0.418000													25	60					3.80469e-20	5.25922e-20	1	1	0
UGT2B4	7363	broad.mit.edu	37	4	70346378	70346378	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:70346378T>C	ENST00000305107.6	-	6	1607	c.1561A>G	c.(1561-1563)Aca>Gca	p.T521A	UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.T385A	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	521					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.T521A(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTCTTTCCTGTTCTAACAAAC	0.418000													59	158					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42166916	42166916	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:42166916G>T	ENST00000327628.5	+	2	496	c.96G>T	c.(94-96)gtG>gtT	p.V32V	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	32					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		p.V32V(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTTTAGATGTGTGCAACAGCA	0.488000													31	68					3.03874e-20	4.20837e-20	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20801732	20801732	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:20801732G>T	ENST00000359062.3	+	13	2716	c.2676G>T	c.(2674-2676)gtG>gtT	p.V892V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	892	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E893*(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTGACCATGTGGAATTTAAGC	0.398000													53	92					6.3008e-33	1.00321e-32	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46268485	46268485	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:46268485A>G	ENST00000372004.3	+	15	3088	c.2872A>G	c.(2872-2874)Att>Gtt	p.I958V	NCOA3_ENST00000371997.3_Missense_Mutation_p.I953V|NCOA3_ENST00000371998.3_Missense_Mutation_p.I958V|NCOA3_ENST00000341724.6_Missense_Mutation_p.I888V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	958					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.I958V(2)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGTGGCTCTATTCCCACATT	0.493000													164	219					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127727745	127727745	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:127727745C>A	ENST00000508053.1	-	17	2543	c.1569G>T	c.(1567-1569)atG>atT	p.M523I	FBN2_ENST00000508989.1_Missense_Mutation_p.M490I|FBN2_ENST00000262464.4_Missense_Mutation_p.M523I			P35556	FBN2_HUMAN	fibrillin 2	523	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.M523I(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTTATAACCCATGTTGCATT	0.348000													64	137					3.20846e-33	5.11959e-33	1	1	0
SETX	23064	broad.mit.edu	37	9	135206746	135206746	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:135206746C>T	ENST00000372169.2	-	8	1110	c.928G>A	c.(928-930)Gat>Aat	p.D310N	SETX_ENST00000393220.1_Missense_Mutation_p.D310N|SETX_ENST00000224140.5_Missense_Mutation_p.D310N			Q7Z333	SETX_HUMAN	senataxin	310					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.D310N(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACAATAGGATCCATAAGTTGA	0.423000													57	168					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40705942	40705942	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:40705942C>T	ENST00000372771.4	+	8	5595	c.5568C>T	c.(5566-5568)tcC>tcT	p.S1856S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1856					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S1856S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAGTTCCTTCCTTGGAAAACC	0.423000													50	131					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125109517	125109517	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:125109517C>T	ENST00000522917.1	+	36	4907	c.4701C>T	c.(4699-4701)cgC>cgT	p.R1567R	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.R1567R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1567						integral to membrane		p.R1567R(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAAGGGCCGCCTGCAGATGT	0.468000													146	132					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99945012	99945012	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:99945012T>C	ENST00000524871.1	+	13	1856	c.1566T>C	c.(1564-1566)gtT>gtC	p.V522V	CNTN5_ENST00000279463.3_Silent_p.V522V|CNTN5_ENST00000527185.1_Silent_p.V522V|CNTN5_ENST00000418526.2_Silent_p.V448V|CNTN5_ENST00000528682.1_Silent_p.V522V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	522	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V522V(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGAGCAGTTAGAGAAAACA	0.363000													7	12					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152566225	152566225	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:152566225T>A	ENST00000397345.3	-	12	1182	c.980A>T	c.(979-981)cAg>cTg	p.Q327L	NEB_ENST00000172853.10_Missense_Mutation_p.Q327L|NEB_ENST00000427231.2_Missense_Mutation_p.Q327L|NEB_ENST00000409198.1_Missense_Mutation_p.Q327L|NEB_ENST00000604864.1_Missense_Mutation_p.Q327L|NEB_ENST00000603639.1_Missense_Mutation_p.Q327L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	327					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.Q327L(4)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTTTCGGTCTGCATGAAGTA	0.398000													6	42					0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75678809	75678809	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:75678809C>A	ENST00000393284.3	-	15	1409	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409445.3_Missense_Mutation_p.D502Y|CAPS2_ENST00000409799.1_Missense_Mutation_p.D420Y|CAPS2_ENST00000442339.2_Missense_Mutation_p.D92Y			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	502							calcium ion binding	p.D270Y(2)|p.D502Y(2)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TCTCCATAATCAACCTTGCCA	0.323000													92	123					1.29119e-40	2.17869e-40	1	1	0
AC005754.7	0	broad.mit.edu	37	5	140480179	140480179	+	RNA	SNP	T	T	G	rs1055410	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:140480179T>G	ENST00000607216.1	-	0	230																											GTTTCCCAGCTCTGTCTGAGG	0.527000													4	53					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116930936	116930936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:116930936G>A	ENST00000527407.1	+	7	1434	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	ATRNL1_ENST00000355044.3_Missense_Mutation_p.E412K|ATRNL1_ENST00000529665.1_3'UTR			Q5VV63	ATRN1_HUMAN	attractin-like 1	0						integral to membrane	sugar binding	p.E412K(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTATGCTGTGGAGGGACATTC	0.373000													492	726					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633401	106633401	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:106633401G>C	ENST00000378026.4	-	2	1346	c.1210C>G	c.(1210-1212)Caa>Gaa	p.Q404E		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	404						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.Q404E(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TGACTCTTTTGCTGGAGTGCC	0.632000													23	32					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581394	82581394	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:82581394C>A	ENST00000423517.2	-	5	9212	c.8875G>T	c.(8875-8877)Gca>Tca	p.A2959S	PCLO_ENST00000333891.8_Missense_Mutation_p.A2959S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2890					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A2959S(4)|p.A2890S(2)		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						AGAGTAGTTGCAGGCTGCTGT	0.463000													90	215					5.12525e-22	7.24842e-22	1	1	0
ITGA4	3676	broad.mit.edu	37	2	182322938	182322938	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:182322938G>A	ENST00000397033.2	+	2	643	c.213G>A	c.(211-213)gcG>gcA	p.A71A	ITGA4_ENST00000339307.4_Silent_p.A71A	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	71					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.A71A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAGTGGGTGCGCCCACTGCCA	0.612000													5	22					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087824	47087824	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:47087824G>A	ENST00000374312.1	+	3	1460	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	NPY4R_ENST00000395716.1_Silent_p.E347E	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.E347E(2)									CCCCCCTGGAGGAGTCGGAGC	0.557000													22	94					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927268	55927268	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:55927268G>T	ENST00000313447.1	-	1	525	c.526C>A	c.(526-528)Cat>Aat	p.H176N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H176N(2)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CAGTAAAAATGACTGATGACA	0.358000													69	207					2.27196e-54	4.11757e-54	1	1	0
MMAA	166785	broad.mit.edu	37	4	146576326	146576326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:146576326G>T	ENST00000281317.5	+	7	2207	c.997G>T	c.(997-999)Gag>Tag	p.E333*	MMAA_ENST00000541599.1_Nonsense_Mutation_p.E52*	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	333						mitochondrion	GTP binding|nucleoside-triphosphatase activity	p.E333*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGAAGTGGAGAGGGGATCTC	0.423000													91	267					1.45855e-51	2.6304e-51	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11022998	11022998	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:11022998G>T	ENST00000304623.8	-	17	3071	c.2882C>A	c.(2881-2883)aCa>aAa	p.T961K	CTNND2_ENST00000458100.2_Missense_Mutation_p.T528K|CTNND2_ENST00000503622.1_Missense_Mutation_p.T624K|CTNND2_ENST00000511377.1_Missense_Mutation_p.T870K|CTNND2_ENST00000359640.2_Missense_Mutation_p.T903K|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	961					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.T961K(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAGACAGCTGTCACTGTGTC	0.547000													119	237					6.9661e-66	1.30437e-65	1	1	0
PER2	8864	broad.mit.edu	37	2	239165693	239165693	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:239165693C>A	ENST00000254657.3	-	17	2214	c.1935G>T	c.(1933-1935)acG>acT	p.T645T	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	645	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.T645T(2)		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)		TACCTACTCCCGTGCGGCTGT	0.587000											OREG0015336	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	41					0.00400662	0.00416553	1	1	0
SLC22A7	10864	broad.mit.edu	37	6	43269342	43269342	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:43269342G>T	ENST00000372585.5	+	7	1068	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G323W|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G323W	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	325						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.G325W(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGTGGCCGCCGGGGAACGGGT	0.587000													21	34					9.95505e-16	1.29557e-15	1	1	0
NUP210L	91181	broad.mit.edu	37	1	153995618	153995618	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:153995618C>T	ENST00000368559.3	-	31	4349	c.4278G>A	c.(4276-4278)caG>caA	p.Q1426Q	NUP210L_ENST00000368553.1_Silent_p.Q359Q|NUP210L_ENST00000271854.3_Silent_p.Q1426Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1426						integral to membrane		p.Q1426Q(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCAGATAAAGCTGGGTATTGT	0.408000													36	124					0	0	1	0	0
JKAMP	51528	broad.mit.edu	37	14	59970757	59970757	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:59970757A>T	ENST00000554271.1	+	7	1471	c.945A>T	c.(943-945)tcA>tcT	p.S315S	RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000425728.2_Silent_p.S295S|JKAMP_ENST00000356057.5_Silent_p.S309S|JKAMP_ENST00000261247.9_Silent_p.S301S			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	316					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	p.S311S(2)|p.S309S(2)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CCGAACCTTCAAGGATACTCT	0.398000													46	126					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1969334	1969334	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:1969334C>G	ENST00000382722.5	-	19	2279	c.1917G>C	c.(1915-1917)acG>acC	p.T639T	CACNA2D4_ENST00000586184.1_Silent_p.T639T|CACNA2D4_ENST00000587995.1_Silent_p.T614T|CACNA2D4_ENST00000585732.1_Silent_p.T500T|CACNA2D4_ENST00000588077.1_Silent_p.T575T|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000585708.1_Silent_p.T575T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	639						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.T639T(4)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CGCTGATGTCCGTGAAGAAGT	0.502000													11	31					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124646418	124646418	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:124646418C>A	ENST00000311075.3	-	2	510	c.472G>T	c.(472-474)Ggc>Tgc	p.G158C		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	158	Thr-rich.					extracellular region|integral to membrane|plasma membrane		p.G158C(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AAAGCGGTGCCAGTGGGAGGC	0.473000													105	310					1.23489e-42	2.13776e-42	1	1	0
TRAV8-6	28680	broad.mit.edu	37	14	22447104	22447104	+	RNA	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:22447104C>T	ENST00000390443.3	+	0	305																											GCTTGACAGCCAAGTCCCTGT	0.468000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	227	554					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68381607	68381607	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:68381607T>A	ENST00000361478.1	-	2	1852	c.1475A>T	c.(1474-1476)gAt>gTt	p.D492V	PJA1_ENST00000374571.4_Missense_Mutation_p.D437V|PJA1_ENST00000374584.3_Missense_Mutation_p.D304V|PJA1_ENST00000374583.1_Missense_Mutation_p.D492V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	492							zinc ion binding	p.D492V(2)|p.D304V(2)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GTTGTTTCCATCCAGCATGAA	0.478000													21	26					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499667	18499667	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:18499667G>T	ENST00000433979.1	+	11	1638	c.1522G>T	c.(1522-1524)Gta>Tta	p.V508L	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.V508L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.V508L|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.V508L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	508					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	p.V508L(4)		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)				TTTTCAGCCTGTAAATGTACC	0.438000													90	167					3.21569e-47	5.64668e-47	1	1	0
MAGEF1	64110	broad.mit.edu	37	3	184429233	184429233	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:184429233C>A	ENST00000317897.3	-	1	603	c.377G>T	c.(376-378)cGg>cTg	p.R126L		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	126	MAGE.							p.R126L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			AAAGACATACCGCAGATGCTC	0.488000													42	107					8.0703e-11	9.52347e-11	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77378052	77378052	+	Splice_Site	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:77378052T>C	ENST00000451710.3	-	26	3774		c.e26-2		TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000360774.1_Splice_Site|TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.?(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCTGTAACCCTAGTGGTGAAG	0.458000													57	110					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811224	123811224	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:123811224C>T	ENST00000307033.2	+	1	975	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L301L(2)|p.L301M(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATGAAGAAGCTGTGGAGGAG	0.493000													147	355					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178977516	178977516	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:178977516G>T	ENST00000286070.5	+	1	335	c.243G>T	c.(241-243)agG>agT	p.R81S		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	81	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	p.R81S(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AGGCCTGCAGGGCCATGGAGG	0.652000													19	40					1.40151e-16	1.84687e-16	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77423091	77423091	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:77423091C>A	ENST00000451710.3	-	14	1735		c.e14-1		TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000360774.1_Splice_Site|TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Splice_Site			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.?(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAAGGGTATGCTGCAACAAAA	0.358000													52	126					7.75977e-34	1.2436e-33	1	1	0
DTX1	1840	broad.mit.edu	37	12	113515246	113515246	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:113515246C>A	ENST00000257600.3	+	2	780	c.277C>A	c.(277-279)Cgg>Agg	p.R93R		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	93	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.R93R(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCGGCCCGTGCGGCGCAACTT	0.682000													23	20					1.61788e-16	2.12818e-16	1	1	0
PREX1	57580	broad.mit.edu	37	20	47364417	47364417	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:47364417C>A	ENST00000396220.1	-	2	242	c.219_splice	c.e2-1	p.A74_splice	PREX1_ENST00000371941.3_Splice_Site_p.A74_splice			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	74	DH.				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	p.A74S(4)|p.A74T(2)		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)			TGCAGGAATGCCTGGAGGAGA	0.592000													19	66					1.33834e-09	1.53731e-09	1	1	0
EGR2	1959	broad.mit.edu	37	10	64575716	64575716	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:64575716A>G	ENST00000242480.3	-	1	399	c.74T>C	c.(73-75)aTc>aCc	p.I25T	EGR2_ENST00000439032.1_Missense_Mutation_p.I25T|EGR2_ENST00000493899.2_5'UTR|EGR2_ENST00000411732.1_5'UTR	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	25					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.I25T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CACCGGGTAGATGTTGTCAGA	0.572000													48	105					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126180702	126180702	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:126180702C>A	ENST00000389709.3	-	6	1856	c.1803G>T	c.(1801-1803)gtG>gtT	p.V601V	ZXDC_ENST00000336332.5_Silent_p.V601V	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	601	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V601V(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCACAGTCTGCACGTCATCCA	0.567000													35	103					1.06647e-15	1.38547e-15	1	1	0
GBE1	2632	broad.mit.edu	37	3	81586172	81586172	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:81586172G>A	ENST00000429644.2	-	13	2336	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	GBE1_ENST00000489715.1_Missense_Mutation_p.R524W	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	565					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.R565W(4)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TGAAACTGCCGCCTGGCATAA	0.383000									Glycogen Storage Disease, type IV				48	43					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168096927	168096927	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:168096927C>A	ENST00000519560.1	-	35	4616	c.4197G>T	c.(4195-4197)ggG>ggT	p.G1399G	SLIT3_ENST00000404867.3_Silent_p.G1399G|SLIT3_ENST00000332966.8_Silent_p.G1406G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1399	EGF-like 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.G1399G(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACACAAGTCCCCTCCATAGC	0.552000													47	75					5.82388e-19	7.91617e-19	1	1	0
TMEM2	23670	broad.mit.edu	37	9	74327059	74327059	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:74327059C>A	ENST00000377044.4	-	16	3248	c.2709G>T	c.(2707-2709)atG>atT	p.M903I	TMEM2_ENST00000377066.5_Missense_Mutation_p.M840I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	903						integral to membrane		p.M903I(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAATTCTTCATGAGGAAGC	0.428000													50	187					1.27862e-28	1.94711e-28	1	1	0
GJA1	2697	broad.mit.edu	37	6	121768935	121768935	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:121768935T>G	ENST00000282561.3	+	2	1099	c.942T>G	c.(940-942)agT>agG	p.S314R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	314					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.S314R(2)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTAATTACAGTGCAGAACAAA	0.458000													78	176					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56472157	56472157	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:56472157G>A	ENST00000370754.5	-	39	7169	c.7170C>T	c.(7168-7170)aaC>aaT	p.N2390N	DST_ENST00000446842.2_Silent_p.N1886N|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Silent_p.N2212N|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Silent_p.N2212N|DST_ENST00000370769.4_Silent_p.N2212N|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2212					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)			GTGAATCCCTGTTTGTATTAT	0.343000													32	81					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56901119	56901119	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:56901119G>A	ENST00000438926.2	+	2	449	c.420G>A	c.(418-420)aaG>aaA	p.K140K	SLC12A3_ENST00000262502.5_Silent_p.K139K|SLC12A3_ENST00000566786.1_Silent_p.K139K|SLC12A3_ENST00000563236.1_Silent_p.K140K	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	140					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.K140K(2)		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)	GCTGGGTCAAGGGGGTGATGG	0.662000													3	8					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68030483	68030483	+	Splice_Site	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:68030483G>C	ENST00000262210.5	+	12	1513	c.1481_splice	c.e12-1	p.R494_splice	CSPP1_ENST00000412460.1_Splice_Site_p.R200_splice	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	529	Pro-rich.					centrosome|microtubule|spindle		p.R494S(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTTCATACAGGATTGCACCTC	0.353000													111	345					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50121455	50121455	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:50121455C>A	ENST00000046087.2	-	3	318	c.249G>T	c.(247-249)gtG>gtT	p.V83V	ZPBP_ENST00000419417.1_Silent_p.V83V	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	83					binding of sperm to zona pellucida	extracellular region		p.V83V(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTACACATAACACGTGTGGAC	0.353000													65	188					4.49761e-31	6.99417e-31	1	1	0
URGCP	55665	broad.mit.edu	37	7	43918478	43918478	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:43918478T>A	ENST00000336086.6	-	4	2691	c.455A>T	c.(454-456)gAc>gTc	p.D152V	RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Missense_Mutation_p.D195V|URGCP_ENST00000443736.1_Missense_Mutation_p.D152V|URGCP_ENST00000402306.3_Missense_Mutation_p.D186V|URGCP_ENST00000447717.3_Missense_Mutation_p.D152V|URGCP_ENST00000223341.7_Missense_Mutation_p.D152V|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	195					cell cycle	centrosome|nucleus	GTP binding	p.D152V(2)|p.D195V(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGAAACTGTCTGAGGAGAG	0.517000													19	19					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618448	156618448	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:156618448C>G	ENST00000329117.4	+	6	1194	c.858C>G	c.(856-858)acC>acG	p.T286T	BCAN_ENST00000361588.5_Silent_p.T286T|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	286	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.T286T(4)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGATTGCCACCACGGGCCAAC	0.627000													94	137					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39985681	39985681	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:39985681G>T	ENST00000373257.3	+	15	1896	c.1803_splice	c.e15-1	p.R602_splice		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	602	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	p.R602L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGGCCTCAGCGGCGCCTGAAC	0.612000													11	30					9.31168e-06	1.01256e-05	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181546938	181546938	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:181546938C>A	ENST00000526775.1	+	4	714	c.549C>A	c.(547-549)caC>caA	p.H183Q	CACNA1E_ENST00000367573.2_Missense_Mutation_p.H183Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.H134Q|CACNA1E_ENST00000367567.4_De_novo_Start_InFrame|CACNA1E_ENST00000357570.5_Missense_Mutation_p.H134Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.H183Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.H183Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	183					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.H183Q(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAATACTCACGTGGACCTGA	0.552000													49	95					9.55234e-14	1.19853e-13	1	1	0
VPS36	51028	broad.mit.edu	37	13	53024666	53024666	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:53024666G>A	ENST00000378060.4	-	1	91	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	22	GLUE N-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.R22C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CGCACCCCGCGCTGCTGGATC	0.711000													11	2					0	0	1	0	0
CLIC2	1193	broad.mit.edu	37	X	154509358	154509358	+	Splice_Site	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:154509358C>G	ENST00000369449.2	-	4	512		c.e4-1		CLIC2_ENST00000465553.1_Splice_Site	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2						signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTGAGGGTACCTTAAAAAGAA	0.418000													39	53					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144854358	144854358	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:144854358G>T	ENST00000367545.3	+	42	6195	c.6195G>T	c.(6193-6195)tgG>tgT	p.W2065C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2065					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.W2065C(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCAACGCTGGGATGCAATTG	0.438000													70	276					1.75807e-36	2.87399e-36	1	1	0
HJURP	55355	broad.mit.edu	37	2	234750372	234750372	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:234750372C>A	ENST00000411486.2	-	8	1119	c.1054G>T	c.(1054-1056)Ggt>Tgt	p.G352C	HJURP_ENST00000441687.1_Missense_Mutation_p.G267C|HJURP_ENST00000432087.1_Missense_Mutation_p.G298C	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	352					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.G352F(2)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AATTTTAAACCTGTCTTACGG	0.438000													6	53					0.0215528	0.0218203	1	1	0
GLRB	2743	broad.mit.edu	37	4	158058029	158058029	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:158058029C>A	ENST00000264428.4	+	6	871	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.L201M|GLRB_ENST00000541722.1_Missense_Mutation_p.L201M	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	201					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.L201M(2)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CAAGATGCAACTGGAGAGCTG	0.363000													58	130					1.52496e-24	2.22088e-24	1	1	0
ZNF570	148268	broad.mit.edu	37	19	37976118	37976118	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:37976118A>T	ENST00000330173.1	+	5	2123	c.1594A>T	c.(1594-1596)Aat>Tat	p.N532Y	ZNF570_ENST00000586475.1_Missense_Mutation_p.N588Y|ZNF570_ENST00000388801.3_Missense_Mutation_p.N329Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N532Y(2)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			caacccagtcaatcaccaagt	0.408000													31	60					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142747463	142747463	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:142747463A>T	ENST00000397933.2	+	15	1640	c.358A>T	c.(358-360)Agt>Tgt	p.S120C	U2SURP_ENST00000493598.2_Missense_Mutation_p.S528C|U2SURP_ENST00000473835.2_Missense_Mutation_p.S529C			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	529					RNA processing	nucleus	nucleotide binding|RNA binding	p.S529C(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGAGGAACCTAGTAAAAAGGG	0.333000													35	90					0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024729	203024729	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:203024729G>T	ENST00000367240.2	+	15	2463	c.1936G>T	c.(1936-1938)Ggc>Tgc	p.G646C	PPFIA4_ENST00000272198.6_Missense_Mutation_p.G161C|PPFIA4_ENST00000599966.1_Missense_Mutation_p.G161C|PPFIA4_ENST00000447715.2_Missense_Mutation_p.G645C|PPFIA4_ENST00000414050.2_Missense_Mutation_p.G374C|PPFIA4_ENST00000295706.4_Missense_Mutation_p.G161C			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	161					cell communication	cell surface|cytoplasm	protein binding	p.G161C(2)|p.G792C(2)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACCACTCAGCGGCCGCTCCAC	0.662000													20	46					1.26612e-14	1.61342e-14	1	1	0
FLG	2312	broad.mit.edu	37	1	152282083	152282083	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:152282083C>G	ENST00000368799.1	-	3	5314	c.5279G>C	c.(5278-5280)gGa>gCa	p.G1760A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1760	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1760A(2)		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)			CCCTGAACGTCCAGACCTTTC	0.597000									Ichthyosis				202	381					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915967	26915967	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:26915967G>A	ENST00000231021.4	-	3	466	c.294C>T	c.(292-294)ggC>ggT	p.G98G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	98	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G98G(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAAATAGACTGCCAGCCCCAT	0.368000													82	176					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6706000	6706000	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:6706000C>T	ENST00000377577.5	-	8	866	c.743G>A	c.(742-744)cGt>cAt	p.R248H	DNAJC11_ENST00000349363.6_Missense_Mutation_p.R210H|DNAJC11_ENST00000294401.7_Missense_Mutation_p.R248H|DNAJC11_ENST00000377573.5_Missense_Mutation_p.R158H|DNAJC11_ENST00000542246.1_Missense_Mutation_p.R210H	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	248					protein folding		heat shock protein binding|unfolded protein binding	p.R248H(2)|p.R278H(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGATTCCACGGGATGAAAA	0.537000													86	307					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369779	78369779	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:78369779G>A	ENST00000278550.7	-	34	8096	c.7634C>T	c.(7633-7635)tCc>tTc	p.S2545F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.S2545F(4)									GGTGATTGTGGAGCCATAGAG	0.537000													40	102					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126776495	126776495	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:126776495C>T	ENST00000274473.6	+	19	2565	c.2298C>T	c.(2296-2298)gaC>gaT	p.D766D	MEGF10_ENST00000503335.2_Silent_p.D766D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	766	EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.D766D(2)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACGGAGCTGACTGCGACCACA	0.507000													92	138					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43447307	43447307	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:43447307G>T	ENST00000395891.1	+	8	1383	c.778G>T	c.(778-780)Gtg>Ttg	p.V260L	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.V260L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	260	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.V239L(2)|p.V260L(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGCAACACCGTGAACCCCAT	0.547000													22	175					2.41591e-17	3.21821e-17	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49559353	49559353	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:49559353C>A	ENST00000561648.1	-	6	3683	c.3630G>T	c.(3628-3630)ccG>ccT	p.P1210P	ZNF423_ENST00000535559.1_Silent_p.P1093P|ZNF423_ENST00000567169.1_Silent_p.P1093P|ZNF423_ENST00000562871.1_Silent_p.P1150P|ZNF423_ENST00000563137.2_Silent_p.P1150P|ZNF423_ENST00000262383.2_Silent_p.P1210P|ZNF423_ENST00000562520.1_Silent_p.P1150P	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1210					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P1210P(6)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGAGCTTGGCCGGGGAGTCGA	0.572000													15	70					0.00498961	0.00515827	1	1	0
KCTD14	65987	broad.mit.edu	37	11	77727720	77727720	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:77727720G>A	ENST00000353172.5	-	2	731	c.687C>T	c.(685-687)ttC>ttT	p.F229F	KCTD14_ENST00000533144.1_Silent_p.F199F	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	229						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F229F(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AGAACTTGGAGAATACCTTGT	0.493000													41	159					0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35709856	35709856	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:35709856C>T	ENST00000396081.1	-	3	1112	c.308G>A	c.(307-309)aGt>aAt	p.S103N	HERPUD2_ENST00000311350.3_Missense_Mutation_p.S103N	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	103	Ser-rich.				response to unfolded protein	integral to membrane		p.S103N(2)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGCTTCATGACTTTCTCTATT	0.378000													26	166					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20812279	20812279	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr22:20812279G>A	ENST00000328879.4	-	5	1277	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	KLHL22_ENST00000440659.2_Missense_Mutation_p.P231L	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	374					cell division	Cul3-RING ubiquitin ligase complex		p.P374L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTTGTGCCGTGGGTCATACCT	0.597000													6	17					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56883961	56883961	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:56883961C>T	ENST00000257287.4	+	22	3074	c.2950C>T	c.(2950-2952)Ctt>Ttt	p.L984F		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	984					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.L984F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTGCATTAAACTTGATTCAGG	0.348000													8	101					0	0	1	0	0
WNT1	7471	broad.mit.edu	37	12	49374219	49374219	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:49374219C>A	ENST00000293549.3	+	3	407	c.371C>A	c.(370-372)aCg>aAg	p.T124K		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	124					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.T124K(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TGTCGAGAAACGGCGTTTATC	0.652000													7	14					0.00621372	0.00639673	1	1	0
SLC2A9	56606	broad.mit.edu	37	4	10027563	10027563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:10027563C>A	ENST00000506583.1	-	3	245	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	SLC2A9_ENST00000309065.3_Nonsense_Mutation_p.E10*			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.E10*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						TCTTCATCTTCTCCTCGGTCC	0.393000													25	77					4.31634e-10	5.01296e-10	1	1	0
C2orf57	165100	broad.mit.edu	37	2	232457748	232457748	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:232457748C>G	ENST00000313965.2	+	1	174	c.86C>G	c.(85-87)cCa>cGa	p.P29R		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	29								p.P29R(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGTCAGGTCCCACTCACAGCA	0.607000													13	77					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55406997	55406997	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:55406997G>T	ENST00000341048.4	-	10	1729	c.1578C>A	c.(1576-1578)caC>caA	p.H526Q	ANKRD55_ENST00000504958.2_Missense_Mutation_p.H483Q|ANKRD55_ENST00000434982.2_Missense_Mutation_p.H238Q	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	525								p.H526Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGACCTCTTGGTGACCAGGCC	0.463000													105	224					1.4939e-78	2.92406e-78	1	1	0
AMER3	205147	broad.mit.edu	37	2	131520903	131520903	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:131520903G>T	ENST00000423981.1	+	2	1368	c.1258G>T	c.(1258-1260)Gac>Tac	p.D420Y	AMER3_ENST00000321420.4_Missense_Mutation_p.D420Y	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									p.D420Y(2)									CTACAGTGGGGACGCCCTCTA	0.622000													5	17					2.0095e-06	2.21135e-06	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140969330	140969330	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:140969330G>T	ENST00000298296.1	+	4	657	c.657G>T	c.(655-657)acG>acT	p.T219T	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	219	MAGE 1.							p.T219T(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACACATACACGGGCTACTTTC	0.438000													103	276					6.62378e-67	1.24663e-66	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113221313	113221313	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:113221313C>A	ENST00000401783.2	-	19	3739	c.3403G>T	c.(3403-3405)Gca>Tca	p.A1135S	SVEP1_ENST00000302728.8_Missense_Mutation_p.A1135S|SVEP1_ENST00000374469.1_Missense_Mutation_p.A1112S|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1135					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.A1135S(2)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCTTCCCTGCATTAGGTTGG	0.463000													102	727					6.91701e-41	1.17525e-40	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803686	185803686	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:185803686C>A	ENST00000302277.6	+	4	4157	c.3563C>A	c.(3562-3564)cCc>cAc	p.P1188H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1188						intracellular	zinc ion binding	p.P1188H(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCATCTTTACCCCATGCACTC	0.473000													108	552					2.32058e-37	3.82765e-37	1	1	0
KIRREL	55243	broad.mit.edu	37	1	158063219	158063219	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:158063219A>T	ENST00000368172.1	+	8	1016	c.1004A>T	c.(1003-1005)tAc>tTc	p.Y335F	KIRREL_ENST00000416935.2_Missense_Mutation_p.Y421F|KIRREL_ENST00000359209.6_Missense_Mutation_p.Y521F|KIRREL_ENST00000360089.4_Missense_Mutation_p.Y357F|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y418F|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y537F			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	521	Ig-like C2-type 4.					integral to membrane		p.Y521F(2)|p.Y357F(2)|p.Y537F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TTCTTCCTCTACCGGCGCCGC	0.602000													78	120					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54281167	54281167	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:54281167C>A	ENST00000381405.4	-	1	324	c.179G>T	c.(178-180)gGg>gTg	p.G60V	ESM1_ENST00000381403.4_Missense_Mutation_p.G60V|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	60	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	p.G60V(2)		breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCTCCCCGCCCTGCAGCGCA	0.602000													46	101					3.4597e-24	5.02856e-24	1	1	0
POU4F2	5458	broad.mit.edu	37	4	147561705	147561705	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:147561705G>T	ENST00000281321.3	+	2	1223	c.975G>T	c.(973-975)gaG>gaT	p.E325D		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	325	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.E325D(2)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GGCTCGAGGAGGCCGAGAAGT	0.592000													46	94					2.14674e-31	3.35257e-31	1	1	0
LEPR	3953	broad.mit.edu	37	1	66083707	66083707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:66083707G>A	ENST00000349533.6	+	16	2458	c.2273G>A	c.(2272-2274)tGg>tAg	p.W758*	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Nonsense_Mutation_p.W758*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.W758*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.W758*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.W758*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	758	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.W758*(6)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTGTTTCCTGGATACTATCA	0.313000													61	134					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58567503	58567503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:58567503G>T	ENST00000348616.4	+	10	1654	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	CDH26_ENST00000244047.5_Nonsense_Mutation_p.E452*	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	452	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E452*(4)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CATCACCGTGGAGCCAATTGA	0.413000													32	74					2.19358e-23	3.16324e-23	1	1	0
LYZL6	57151	broad.mit.edu	37	17	34263771	34263771	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:34263771C>A	ENST00000585556.1	-	4	699	c.365G>T	c.(364-366)gGg>gTg	p.G122V	LYZL6_ENST00000394523.3_Missense_Mutation_p.G122V|LYZL6_ENST00000293274.4_Missense_Mutation_p.G122V			O75951	LYZL6_HUMAN	lysozyme-like 6	122					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G122V(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTGTTCATCCCCCGTGCTCC	0.577000													51	164					6.3091e-27	9.37425e-27	1	1	0
PRSS54	221191	broad.mit.edu	37	16	58314662	58314662	+	Splice_Site	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:58314662C>T	ENST00000219301.4	-	7	1049		c.e7-1		PRSS54_ENST00000567164.1_Splice_Site|PRSS54_ENST00000543437.1_Splice_Site|CCDC113_ENST00000443128.2_3'UTR|CCDC113_ENST00000219299.4_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54						proteolysis	extracellular region	serine-type endopeptidase activity	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGGGTCCCCCTGTGATAAAA	0.453000													81	95					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076887	49076887	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:49076887C>A	ENST00000344532.3	-	11	1513	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S	RCBTB2_ENST00000544492.1_Missense_Mutation_p.A90S|RCBTB2_ENST00000544904.1_3'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.A369S	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	364							Ran guanyl-nucleotide exchange factor activity	p.A364S(2)		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)		CACGTGACGGCGGGCGTGGCA	0.592000													52	60					3.98911e-17	5.29477e-17	1	1	0
MED12L	116931	broad.mit.edu	37	3	151134112	151134112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:151134112C>T	ENST00000474524.1	+	41	6243	c.6205C>T	c.(6205-6207)Cag>Tag	p.Q2069*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2069	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2069*(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			Gcagcagccccagcagcccca	0.527000													12	39					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131964130	131964130	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:131964130G>C	ENST00000286355.5	-	3	3317	c.1225C>G	c.(1225-1227)Cgc>Ggc	p.R409G	ADCY8_ENST00000377928.3_Missense_Mutation_p.R409G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	409					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.R409G(2)		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)			TTCTCATAGCGATGGATGTAG	0.517000										HNSCC(32;0.087)			50	160					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261202	21261202	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:21261202T>A	ENST00000311620.5	+	2	388	c.315T>A	c.(313-315)gcT>gcA	p.A105A		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	105								p.A105A(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGGATGCTGCTGCCAGCAGGG	0.542000													44	132					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49597803	49597803	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:49597803C>A	ENST00000527477.1	+	0	407																											CTAAAACGGTCCTTCTGTTGA	0.493000													11	38					1.52009e-12	1.85958e-12	1	1	0
ST3GAL6	10402	broad.mit.edu	37	3	98503797	98503797	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:98503797G>T	ENST00000394162.1	+	7	811	c.344G>T	c.(343-345)tGt>tTt	p.C115F	ST3GAL6_ENST00000483910.1_Missense_Mutation_p.C115F|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Intron	NM_006100.2	NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	115					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	p.C115F(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AGCATACCCTGTAAAAAGTGT	0.368000													34	131					3.43241e-23	4.92069e-23	1	1	0
TRIML2	205860	broad.mit.edu	37	4	189020209	189020209	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:189020209C>A	ENST00000512729.1	-	4	825	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	TRIML2_ENST00000536972.1_Missense_Mutation_p.G201C|TRIML2_ENST00000326754.3_Missense_Mutation_p.G151C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	151							ligase activity	p.G151C(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCAAGGTGCCTTCCCCACAC	0.458000													23	46					2.79863e-10	3.26063e-10	1	1	0
ZAN	7455	broad.mit.edu	37	7	100373327	100373327	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:100373327C>A	ENST00000542585.1	+	0	6209				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.Q2021K(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGCCATCTCCCAGATCCCTGG	0.532000													4	45					5.18039e-06	5.66678e-06	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248845065	248845065	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:248845065G>A	ENST00000342623.3	-	1	564	c.541C>T	c.(541-543)Cat>Tat	p.H181Y		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H181Y(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GCCAACACATGAGGGATGTCA	0.502000													6	68					0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123434340	123434340	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:123434340C>A	ENST00000542678.1	-	4	3680	c.842G>T	c.(841-843)cGc>cTc	p.R281L	ABCB9_ENST00000346530.5_Missense_Mutation_p.R281L|ABCB9_ENST00000442028.2_Missense_Mutation_p.R281L|ABCB9_ENST00000280560.8_Missense_Mutation_p.R281L|ABCB9_ENST00000540285.1_Missense_Mutation_p.R281L|ABCB9_ENST00000344275.7_Missense_Mutation_p.R281L|ABCB9_ENST00000442833.2_Missense_Mutation_p.R281L|ABCB9_ENST00000392439.3_Missense_Mutation_p.R281L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	281	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	p.R281L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCAACCTGTGCGGTTCTCATC	0.567000													18	22					5.3912e-06	5.88861e-06	1	1	0
ADC	113451	broad.mit.edu	37	1	33562427	33562427	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:33562427C>T	ENST00000294517.6	+	9	1460	c.873C>T	c.(871-873)atC>atT	p.I291I	ADC_ENST00000373440.1_Silent_p.I133I|ADC_ENST00000398167.1_Silent_p.I291I|ADC_ENST00000358680.3_Silent_p.I133I|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Silent_p.I291I|ADC_ENST00000373443.3_Silent_p.I291I	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	291					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	p.I291I(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CAGTCAGCATCATTGCCAAGA	0.592000													125	380					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75672394	75672394	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:75672394C>A	ENST00000370855.5	-	24	2171	c.2058G>T	c.(2056-2058)ctG>ctT	p.L686L	SLC44A5_ENST00000535611.1_Silent_p.L556L|SLC44A5_ENST00000370859.3_Intron	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	686						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.L686L(2)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CATTTCTTTCCAGATCTTCAC	0.413000													39	124					9.84934e-19	1.3265e-18	1	1	0
LTBP2	4053	broad.mit.edu	37	14	74969481	74969481	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:74969481G>T	ENST00000261978.4	-	34	5431	c.5045C>A	c.(5044-5046)cCc>cAc	p.P1682H	LTBP2_ENST00000556690.1_Missense_Mutation_p.P1638H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1682					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P1682H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGTGTCCTCGGGGCCCAGGTA	0.632000													22	45					9.95505e-16	1.29557e-15	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21416983	21416983	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:21416983G>T	ENST00000313654.9	+	25	3264	c.3023G>T	c.(3022-3024)cGc>cTc	p.R1008L	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1008L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1008	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1008L(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACATGAGCCGCATCGCCATG	0.488000													25	116					6.38683e-12	7.73586e-12	1	1	0
ASTN1	460	broad.mit.edu	37	1	176927497	176927497	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:176927497C>G	ENST00000367654.2	-	10	1757	c.1744G>C	c.(1744-1746)Gat>Cat	p.D582H	ASTN1_ENST00000424564.2_Missense_Mutation_p.D574H|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.D574H|ASTN1_ENST00000361833.2_Missense_Mutation_p.D574H			O14525	ASTN1_HUMAN	astrotactin 1	582					cell migration|neuron cell-cell adhesion	integral to membrane		p.D574H(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCACAGCATCCTCCATCACA	0.532000													71	183					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777159	123777159	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:123777159C>T	ENST00000321355.2	+	1	51	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S7S(2)		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)		AAAACCATTCCACAGTGACTG	0.388000													42	121					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141256	143141256	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:143141256C>G	ENST00000332690.1	+	1	711	c.711C>G	c.(709-711)ccC>ccG	p.P237P	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	237					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.P237P(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCCGAGAGCCCAGTGTGCAGG	0.483000													87	236					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248844970	248844970	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:248844970C>A	ENST00000342623.3	-	1	659	c.636G>T	c.(634-636)atG>atT	p.M212I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M212I(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGAGATCATCATGAGAATAA	0.493000													27	73					1.80694e-10	2.11194e-10	1	1	0
RYR2	6262	broad.mit.edu	37	1	237951302	237951302	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:237951302A>C	ENST00000366574.2	+	92	13660	c.13343A>C	c.(13342-13344)gAa>gCa	p.E4448A	RYR2_ENST00000360064.6_Missense_Mutation_p.E4454A|RYR2_ENST00000542537.1_Missense_Mutation_p.E4432A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4448	Glu-rich (acidic).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E4446A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGATGGAGAAAAAGAAGAG	0.418000													26	110					0	0	1	0	0
FAM218A	152756	broad.mit.edu	37	4	165878351	165878351	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:165878351G>T	ENST00000513876.2	+	1	252	c.177G>T	c.(175-177)ttG>ttT	p.L59F	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN	family with sequence similarity 218, member A	59								p.L59F(2)									GTGTCTCTTTGCTCAGACATC	0.612000													6	32					1.06961e-07	1.19862e-07	1	1	0
PLCG1	5335	broad.mit.edu	37	20	39801184	39801184	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:39801184G>T	ENST00000373272.2	+	26	3434	c.3029G>T	c.(3028-3030)cGc>cTc	p.R1010L	PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.R1010L|PLCG1_ENST00000244007.3_Missense_Mutation_p.R1010L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1010	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	p.R1010L(2)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAGCTCTCCCGCATCTACCCC	0.542000													17	75					8.34094e-07	9.22025e-07	1	1	0
LRP1B	53353	broad.mit.edu	37	2	140995750	140995750	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:140995750C>A	ENST00000389484.3	-	89	14502	c.13531G>T	c.(13531-13533)Gat>Tat	p.D4511Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4511					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D4511Y(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCCAGGATCTAAAAGACCT	0.373000										TSP Lung(27;0.18)			115	247					3.69866e-55	6.71985e-55	1	1	0
MUC16	94025	broad.mit.edu	37	19	9020128	9020128	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:9020128A>T	ENST00000397910.4	-	21	37570	c.37367T>A	c.(37366-37368)gTg>gAg	p.V12456E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12458	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V12456E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGCATCCACTCCAGTGGC	0.517000													311	463					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	65612314	65612314	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:65612314A>T	ENST00000503581.1	-	17	3258	c.2721T>A	c.(2719-2721)gaT>gaA	p.D907E	EYS_ENST00000370616.2_Missense_Mutation_p.D907E|EYS_ENST00000370621.3_Missense_Mutation_p.D907E	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	907	EGF-like 13.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.D907E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGTTGACCATATCTTCACAGT	0.338000													15	42					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87701591	87701591	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:87701591T>G	ENST00000436978.1	+	36	6423	c.5943T>G	c.(5941-5943)tcT>tcG	p.S1981S	PTPN13_ENST00000316707.6_Silent_p.S1785S|PTPN13_ENST00000411767.2_Silent_p.S1976S|PTPN13_ENST00000511467.1_Silent_p.S1981S|PTPN13_ENST00000427191.2_Silent_p.S1957S	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1976						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.S1981S(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAAAGAGGTCTGCTGTTTCAG	0.423000													33	83					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200298195	200298195	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:200298195C>A	ENST00000417098.1	-	3	1028	c.212G>T	c.(211-213)gGc>gTc	p.G71V	SATB2_ENST00000457245.1_Missense_Mutation_p.G71V|SATB2_ENST00000428695.1_Missense_Mutation_p.G71V|SATB2_ENST00000260926.5_Missense_Mutation_p.G71V|SATB2_ENST00000443023.1_Intron	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	71						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.G71V(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCAAGAGAGCCGTCCAACTG	0.473000													63	157					6.25564e-26	9.23871e-26	1	1	0
OR5T3	390154	broad.mit.edu	37	11	56020456	56020456	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:56020456G>C	ENST00000303059.3	+	1	781	c.781G>C	c.(781-783)Gct>Cct	p.A261P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A261P(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GATGCATTCTGCTAAGGGAAG	0.408000													181	489					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64824289	64824289	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:64824289T>C	ENST00000396679.1	-	9	801	c.587A>G	c.(586-588)aAa>aGa	p.K196R	CENPK_ENST00000510693.1_Missense_Mutation_p.K133R|CENPK_ENST00000514814.1_Missense_Mutation_p.K196R|CENPK_ENST00000242872.3_Missense_Mutation_p.K196R|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000508421.1_Missense_Mutation_p.K166R	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	196					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		p.K196R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		CTTTTTCTTTTTAACACTTCT	0.284000													17	34					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030031	95030031	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:95030031C>A	ENST00000557004.1	+	2	633	c.212C>A	c.(211-213)cCg>cAg	p.P71Q	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.P71Q|SERPINA4_ENST00000298841.5_Missense_Mutation_p.P71Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	71					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.P71Q(3)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCGGAGACCCCGGGGAAGAAC	0.607000													82	143					4.85238e-36	7.89722e-36	1	1	0
FHOD3	80206	broad.mit.edu	37	18	34349242	34349242	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:34349242T>A	ENST00000257209.4	+	24	4212	c.4090T>A	c.(4090-4092)Tgg>Agg	p.W1364R	FHOD3_ENST00000592128.1_Missense_Mutation_p.W343R|FHOD3_ENST00000359247.4_Missense_Mutation_p.W1347R|FHOD3_ENST00000590592.1_Missense_Mutation_p.W1547R|FHOD3_ENST00000591635.1_Missense_Mutation_p.W560R|FHOD3_ENST00000445677.1_Missense_Mutation_p.W1326R	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1347	DAD.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.W1364R(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTAGTTCCTGGACTATGGG	0.473000													60	93					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31309152	31309152	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:31309152G>T	ENST00000544665.3	+	14	1658	c.1587G>T	c.(1585-1587)ggG>ggT	p.G529G	ITGAM_ENST00000287497.8_Silent_p.G528G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	528					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.G528G(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAGTGCTGGGGGACGTAAATG	0.607000													148	495					4.65207e-85	9.12999e-85	1	1	0
HHIPL1	84439	broad.mit.edu	37	14	100118631	100118631	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:100118631G>T	ENST00000330710.5	+	2	424	c.326G>T	c.(325-327)gGg>gTg	p.G109V	HHIPL1_ENST00000357223.2_Missense_Mutation_p.G109V	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	109					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	p.G109V(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACGGTGCCCGGGCTCTGCCAG	0.612000													14	35					5.26018e-13	6.51091e-13	1	1	0
DGKG	1608	broad.mit.edu	37	3	185986600	185986600	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:185986600C>G	ENST00000265022.3	-	12	1645	c.1106G>C	c.(1105-1107)tGc>tCc	p.C369S	DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.C369S|DGKG_ENST00000382164.4_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	369					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.C369S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGTCATCCGGCACCACACGCA	0.607000													25	44					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329238	88329238	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:88329238G>T	ENST00000325089.6	+	2	1814	c.1595G>T	c.(1594-1596)aGg>aTg	p.R532M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R291M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	532						integral to membrane		p.R532M(2)		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)					ACCCTCCTCAGGCTAAACCTG	0.527000													20	31					2.4624e-09	2.81088e-09	1	1	0
SLC16A7	9194	broad.mit.edu	37	12	60098636	60098636	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:60098636G>C	ENST00000261187.4	+	2	218	c.54G>C	c.(52-54)tgG>tgC	p.W18C	SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000552432.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000547379.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000552024.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000549465.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000543448.1_5'UTR	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	18						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.W18C(2)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATGGAGGATGGGGTTGGATTG	0.433000													27	41					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42537630	42537630	+	RNA	SNP	C	C	G	rs139038830	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr22:42537630C>G	ENST00000435101.1	-	0	108				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						GAACAGGTTACCCACCACTAT	0.612000													4	38					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64483301	64483301	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:64483301G>T	ENST00000358025.3	+	33	5069	c.4839G>T	c.(4837-4839)gaG>gaT	p.E1613D	SYNE2_ENST00000344113.4_Missense_Mutation_p.E1613D|SYNE2_ENST00000554584.1_Missense_Mutation_p.E1613D|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1613					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E1613D(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTTTGAAGAGCCCCCTTTTG	0.284000													6	13					2.7689e-08	3.12192e-08	1	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768509	31768509	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:31768509C>T	ENST00000355459.2	+	1	118	c.105C>T	c.(103-105)gtC>gtT	p.V35V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	35						intermediate filament		p.V35V(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAACCAGGTCTACAGCACTG	0.602000													79	254					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99772348	99772348	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:99772348A>T	ENST00000370185.3	+	7	2571	c.2074A>T	c.(2074-2076)Agc>Tgc	p.S692C	LPPR4_ENST00000457765.1_Missense_Mutation_p.S634C|LPPR4_ENST00000370184.1_Missense_Mutation_p.S534C	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		692							phosphatidate phosphatase activity	p.S692C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAACATTGATAGCAATGAGCA	0.507000													21	79					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151904	158151904	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:158151904A>T	ENST00000368171.3	+	4	910	c.411A>T	c.(409-411)caA>caT	p.Q137H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	137					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.Q137H(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TAGCATTTCAAGGAAAAGATA	0.512000													115	375					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851501	61851501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:61851501C>A	ENST00000577390.1	-	7	2113	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*	CDH8_ENST00000584337.1_Nonsense_Mutation_p.E387*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.E387*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.E387*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	387	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E387Q(2)|p.E387*(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACCGGAGGCTCATCAGCATCT	0.498000													142	214					1.59857e-72	3.04766e-72	1	1	0
INSL4	3641	broad.mit.edu	37	9	5231684	5231684	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:5231684C>T	ENST00000239316.4	+	1	266	c.161C>T	c.(160-162)cCa>cTa	p.P54L		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	54					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	p.P54L(2)		endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		ACCACCACCCCAGGAGGGTGG	0.527000													89	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179427841	179427841	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:179427841G>A	ENST00000589042.1	-	326	83242	c.83018C>T	c.(83017-83019)cCa>cTa	p.P27673L	TTN_ENST00000359218.5_Missense_Mutation_p.P18733L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18800L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18608L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25105L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P26032L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26032	Fibronectin type-III 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P18800L(2)|p.P25105L(2)|p.P18733L(2)|p.P25103L(2)|p.P18608L(2)		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)			TTCTATTTCTGGTGGCTCTAT	0.463000													116	320					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196197364	196197364	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:196197364G>T	ENST00000367433.5	-	27	3427	c.3326C>A	c.(3325-3327)aCt>aAt	p.T1109N	KCNT2_ENST00000367431.4_Missense_Mutation_p.T1067N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.T1133N|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1133						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.T1133N(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCAAAGTTGAGTTTCCTCCCG	0.398000													27	94					5.45727e-16	7.12747e-16	1	1	0
SEMA5B	54437	broad.mit.edu	37	3	122631817	122631817	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:122631817G>T	ENST00000195173.4	-	18	2898	c.2595C>A	c.(2593-2595)tcC>tcA	p.S865S	SEMA5B_ENST00000451055.2_Silent_p.S920S|SEMA5B_ENST00000357599.3_Silent_p.S866S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	866	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.S920S(3)|p.S866S(3)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGCAGTCCCGGGAGCAGGACG	0.741000													6	5					3.59834e-05	3.8727e-05	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228509335	228509335	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:228509335G>C	ENST00000570156.2	+	66	17738	c.17664G>C	c.(17662-17664)tgG>tgC	p.W5888C	OBSCN_ENST00000366709.4_Missense_Mutation_p.W2050C|OBSCN_ENST00000422127.1_Missense_Mutation_p.W4931C|OBSCN_ENST00000284548.11_Missense_Mutation_p.W4931C|OBSCN_ENST00000366707.4_Missense_Mutation_p.W2565C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4931					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.W5513C(2)|p.W4931C(2)|p.W5643C(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCCCGCTGGCTGAAGGATG	0.637000													10	22					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840994	150840994	+	Missense_Mutation	SNP	G	G	T	rs147522572	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:150840994G>T	ENST00000370357.4	+	14	2022	c.1777G>T	c.(1777-1779)Gta>Tta	p.V593L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	593						nucleus	signal transducer activity	p.V593L(4)		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)					CCCACGTGACGTATCTGTGCC	0.527000													88	168					9.98844e-40	1.67386e-39	1	1	0
FGB	2244	broad.mit.edu	37	4	155487128	155487128	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:155487128T>A	ENST00000302068.4	+	2	346	c.283T>A	c.(283-285)Tgt>Agt	p.C95S	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	95			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.C95S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGCTGGAGGCTGTCTTCACGC	0.552000													25	87					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745991	77745991	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:77745991C>A	ENST00000409088.3	-	3	1418	c.1004G>T	c.(1003-1005)aGc>aTc	p.S335I	LRRTM4_ENST00000409282.1_Missense_Mutation_p.S336I|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S335I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S336I|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S335I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	335	LRRCT.					integral to membrane		p.S335I(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TATCATGGTGCTTTCCTTATT	0.393000													4	29					0.00909568	0.00924685	1	1	0
GPC4	2239	broad.mit.edu	37	X	132439938	132439938	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:132439938C>A	ENST00000370828.3	-	6	1541	c.1017G>T	c.(1015-1017)caG>caT	p.Q339H	GPC4_ENST00000535467.1_Missense_Mutation_p.Q269H	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	339					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Q339H(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTCCACATCCCTGGAAAACCT	0.582000													230	328					3.33386e-110	6.6496e-110	1	1	0
ZFAND2B	130617	broad.mit.edu	37	2	220073185	220073185	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:220073185G>A	ENST00000409097.1	+	7	622	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V189M|ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V189M|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V189M|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.V189M			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	189						endoplasmic reticulum	protein binding|zinc ion binding	p.V189M(2)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCCTCCAGTGATTGCTTT	0.542000													11	57					0	0	1	0	0
MFAP4	4239	broad.mit.edu	37	17	19288711	19288711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:19288711G>T	ENST00000395592.2	-	4	440	c.369C>A	c.(367-369)taC>taA	p.Y123*	MFAP4_ENST00000497081.2_Nonsense_Mutation_p.Y124*|MFAP4_ENST00000299610.4_Nonsense_Mutation_p.Y99*	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	99	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding	p.Y123*(2)|p.Y99*(2)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCCCAGCTTGTAGTCATTCC	0.572000													16	38					1.01871e-10	1.19829e-10	1	1	0
SALL4	57167	broad.mit.edu	37	20	50407691	50407691	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:50407691T>A	ENST00000217086.4	-	2	1442	c.1331A>T	c.(1330-1332)gAg>gTg	p.E444V	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	444					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E444V(2)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCTGGAACTCGGCAAACAG	0.552000													27	30					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176998824	176998824	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:176998824C>G	ENST00000367654.2	-	5	1079	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H	ASTN1_ENST00000424564.2_Missense_Mutation_p.D356H|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.D356H|ASTN1_ENST00000361833.2_Missense_Mutation_p.D356H			O14525	ASTN1_HUMAN	astrotactin 1	356					cell migration|neuron cell-cell adhesion	integral to membrane		p.D356H(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCTGGGGGTCGTTTTCTGCC	0.507000													23	57					0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86559805	86559805	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:86559805T>A	ENST00000376344.3	-	3	913	c.697A>T	c.(697-699)Agt>Tgt	p.S233C	C9orf64_ENST00000314700.1_Missense_Mutation_p.S92C	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	233								p.S233C(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATGGTGATACTGGAGATGTCC	0.428000													13	75					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345155	5345155	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:5345155G>T	ENST00000328813.2	-	1	427	c.373C>A	c.(373-375)Cgc>Agc	p.R125S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R125S(2)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGATTGCGGATGGCAATG	0.453000													94	150					4.60726e-43	8.01358e-43	1	1	0
OR13H1	347468	broad.mit.edu	37	X	130678094	130678094	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:130678094G>T	ENST00000338616.3	+	1	145	c.47G>T	c.(46-48)gGc>gTc	p.G16V		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(2)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CTCCTTATTGGCATTTCTAAC	0.383000													275	725					1.05304e-135	2.13517e-135	1	1	0
FSTL1	11167	broad.mit.edu	37	3	120129820	120129820	+	Missense_Mutation	SNP	C	C	T	rs149509930		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:120129820C>T	ENST00000295633.3	-	5	666	c.310G>A	c.(310-312)Gta>Ata	p.V104I	FSTL1_ENST00000424703.2_Missense_Mutation_p.V69I	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	104					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	p.V104I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GATGGACTTACGGATTTCTTC	0.393000													7	130					0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164466875	164466875	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:164466875G>T	ENST00000503008.1	-	7	1420	c.444C>A	c.(442-444)acC>acA	p.T148T	MARCH1_ENST00000339875.5_Silent_p.T131T|MARCH1_ENST00000274056.7_Silent_p.T148T|MARCH1_ENST00000514618.1_Silent_p.T404T	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	148					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T148T(2)|p.T131T(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTCACTTGTGGTCATCTGTA	0.423000													112	343					3.45943e-77	6.75325e-77	1	1	0
DDI1	414301	broad.mit.edu	37	11	103908255	103908255	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:103908255C>A	ENST00000302259.3	+	1	948	c.705C>A	c.(703-705)ccC>ccA	p.P235P	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	235					proteolysis		aspartic-type endopeptidase activity	p.P235P(6)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AAGAGGCCCCCGAGAGTTTTG	0.478000													21	86					3.65163e-15	4.69404e-15	1	1	0
HCFC1	3054	broad.mit.edu	37	X	153227748	153227748	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:153227748G>A	ENST00000310441.7	-	5	1688	c.722C>T	c.(721-723)aCg>aTg	p.T241M	HCFC1_ENST00000354233.3_Missense_Mutation_p.T241M|HCFC1_ENST00000369984.4_Missense_Mutation_p.T241M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	241					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.T142M(2)|p.T241M(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTATTCCACGTCAGGGTGTC	0.567000													3	12					0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21768283	21768283	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:21768283C>G	ENST00000276420.4	-	4	777	c.519G>C	c.(517-519)cgG>cgC	p.R173R	DOK2_ENST00000544659.1_Silent_p.R19R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	173	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.R173R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCTCCCCAGCCCGGAGGGTAT	0.642000													3	7					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246771	80246771	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:80246771G>T	ENST00000286794.4	-	1	433	c.261C>A	c.(259-261)gcC>gcA	p.A87A		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	87	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.A87A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCAGCTTCTGGGCCAGGCCGA	0.577000													32	78					3.11337e-16	4.08074e-16	1	1	0
CYP11B2	1585	broad.mit.edu	37	8	143994002	143994002	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:143994002G>T	ENST00000323110.2	-	8	1344	c.1342C>A	c.(1342-1344)Cgc>Agc	p.R448S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	448					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.R448S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGGCACTGGCGCATGCCAAAG	0.682000									Familial Hyperaldosteronism type I				22	113					2.12542e-12	2.58716e-12	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9063152	9063152	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:9063152C>A	ENST00000382496.5	-	18	3030	c.2365G>T	c.(2365-2367)Gcc>Tcc	p.A789S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	789	TSP type-1 5.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.A789S(2)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GACGTCCAGGCTGACCAAGCC	0.582000													8	60					1.12685e-05	1.22353e-05	1	1	0
PRDM14	63978	broad.mit.edu	37	8	70981552	70981552	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:70981552G>T	ENST00000276594.2	-	2	745	c.544C>A	c.(544-546)Ccc>Acc	p.P182T		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P182T(2)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GAGGGTTTGGGACCATCCTCT	0.577000													4	10					0.00909568	0.00924685	1	1	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217055	53217055	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:53217055G>T	ENST00000342657.3	+	7	1501	c.428G>T	c.(427-429)gGc>gTc	p.G143V	HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.G143V|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.G143V	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	143	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	p.G143V(2)		cervix(1)|large_intestine(1)|lung(5)	7						CGAGGCAGTGGCAAGAAAAGG	0.408000													54	79					1.22119e-34	1.97435e-34	1	1	0
SERPINB2	5055	broad.mit.edu	37	18	61570386	61570386	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:61570386G>T	ENST00000457692.1	+	9	1428	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	SERPINB2_ENST00000299502.4_Missense_Mutation_p.E365D	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	365					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.E365D(2)		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)	TGAATGAGGAGGGCACTGAAG	0.502000													61	95					2.23399e-28	3.38792e-28	1	1	0
SALL1	6299	broad.mit.edu	37	16	51173730	51173730	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:51173730G>T	ENST00000440970.1	-	2	2543	c.2112C>A	c.(2110-2112)agC>agA	p.S704R	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S801R	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	801					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S801R(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACTCAGAGTAGCTGTCGGGGA	0.512000													118	196					8.58103e-55	1.74138e-54	0.870114	1	0
PIK3R3	8503	broad.mit.edu	37	1	46521524	46521524	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:46521524A>G	ENST00000262741.5	-	7	1573	c.884T>C	c.(883-885)aTg>aCg	p.M295T	PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000540385.1_Missense_Mutation_p.M341T|PIK3R3_ENST00000420542.1_Missense_Mutation_p.M295T|PIK3R3_ENST00000372006.1_Missense_Mutation_p.M295T|PIK3R3_ENST00000340332.6_Intron	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	295					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	p.M295T(2)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GATGCTATTCATTTTTTTATC	0.428000													33	124					0	0	0.788014	0	0
MAPT	4137	broad.mit.edu	37	17	44067349	44067349	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:44067349G>T	ENST00000344290.5	+	8	1610	c.1288G>T	c.(1288-1290)Gct>Tct	p.A430S	MAPT_ENST00000576518.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.A430S|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A430S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.A430S|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000574436.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	430					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	p.A430S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTCCAGCCCTGCTGTGTGCCC	0.522000													117	388					1.62254e-48	3.26654e-48	0.870114	1	0
MFSD4	148808	broad.mit.edu	37	1	205538353	205538353	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:205538353G>C	ENST00000367147.4	+	1	249	c.156G>C	c.(154-156)caG>caC	p.Q52H	MFSD4_ENST00000539267.1_Missense_Mutation_p.Q52H|MFSD4_ENST00000536357.1_Missense_Mutation_p.Q52H	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	52					transmembrane transport	integral to membrane		p.Q52H(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CGCTGCCCCAGATCTCCTGGG	0.672000													5	10					0	0	0.248553	0	0
ABCA10	10349	broad.mit.edu	37	17	67190582	67190582	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:67190582C>A	ENST00000269081.4	-	13	2198	c.1289G>T	c.(1288-1290)gGa>gTa	p.G430V	ABCA10_ENST00000416101.2_Missense_Mutation_p.G430V	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	430	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.G430V(2)		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)					TTTACCAGCTCCATTATGCCC	0.333000													24	119					1.66031e-10	2.08154e-10	0.667858	1	0
COL12A1	1303	broad.mit.edu	37	6	75899098	75899098	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:75899098C>A	ENST00000322507.8	-	7	968		c.e7-1		COL12A1_ENST00000416123.2_Splice_Site|COL12A1_ENST00000483888.2_Splice_Site|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.?(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGGCATCCCCTAAAGGGAAA	0.328000													20	53					8.10497e-08	9.26109e-08	0.592651	1	0
DNAH8	1769	broad.mit.edu	37	6	38758175	38758175	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:38758175A>G	ENST00000359357.3	+	18	2378	c.2124A>G	c.(2122-2124)ttA>ttG	p.L708L	DNAH8_ENST00000441566.1_Silent_p.L708L|DNAH8_ENST00000449981.2_Silent_p.L925L					dynein, axonemal, heavy chain 8									p.L708L(4)		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						ATCAACTTTTAAAGAAGGTAT	0.313000													20	40					0	0	0.557998	0	0
HGF	3082	broad.mit.edu	37	7	81388081	81388081	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:81388081C>A	ENST00000222390.5	-	3	520	c.294G>T	c.(292-294)tgG>tgT	p.W98C	HGF_ENST00000423064.2_Missense_Mutation_p.W98C|HGF_ENST00000444829.2_Missense_Mutation_p.W98C|HGF_ENST00000354224.6_Missense_Mutation_p.W98C|HGF_ENST00000457544.2_Missense_Mutation_p.W98C|HGF_ENST00000453411.1_Missense_Mutation_p.W98C|HGF_ENST00000453018.1_5'UTR	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	98	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.W98C(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGAAGGGGAACCAGAGGCATT	0.323000													22	115					5.26018e-13	7.30474e-13	0.608945	1	0
BCL11A	53335	broad.mit.edu	37	2	60773198	60773198	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:60773198G>T	ENST00000335712.6	-	2	520	c.293C>A	c.(292-294)cCc>cAc	p.P98H	BCL11A_ENST00000356842.4_Missense_Mutation_p.P98H|BCL11A_ENST00000358510.4_Missense_Mutation_p.P98H|BCL11A_ENST00000538214.1_Missense_Mutation_p.P98H|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000359629.5_Missense_Mutation_p.P98H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	98	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.P98H(6)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AACCTCCACGGGATTGGATGC	0.473000			T	IGH@	B-CLL								41	126					3.09479e-21	5.14221e-21	0.827153	1	0
IGHV4-61	28391	broad.mit.edu	37	14	107095455	107095455	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:107095455G>T	ENST00000390630.2	-	0	147																											GAGACCCACAGTGAGCCCTGG	0.622000													16	33					6.72482e-11	8.52932e-11	0.479597	1	0
PSMD11	5717	broad.mit.edu	37	17	30800864	30800864	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:30800864C>T	ENST00000261712.3	+	7	952	c.689C>T	c.(688-690)tCa>tTa	p.S230L	PSMD11_ENST00000457654.2_Missense_Mutation_p.S230L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	230	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	p.S230L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			ACTGCGTACTCATACTTCTAT	0.413000													40	134					0	0	0.834066	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													8	113					0	0	0.307466	0	0
CD8A	925	broad.mit.edu	37	2	87017643	87017643	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:87017643G>C	ENST00000409511.2	-	5	1241	c.211C>G	c.(211-213)Cta>Gta	p.L71V	CD8A_ENST00000352580.3_Missense_Mutation_p.L71V|CD8A_ENST00000409781.1_Missense_Mutation_p.L71V|CD8A_ENST00000456996.2_Missense_Mutation_p.L71V|CD8A_ENST00000283635.3_Missense_Mutation_p.L71V|CD8A_ENST00000538832.1_Missense_Mutation_p.L112V	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	71	Ig-like V-type.				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	p.L71V(2)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GAGAGGTATAGGAGGAAGGTG	0.667000													30	107					0	0	0.779181	0	0
CACNA2D1	781	broad.mit.edu	37	7	81978919	81978919	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:81978919C>A	ENST00000356860.3	-	2	480	c.142G>T	c.(142-144)Gca>Tca	p.A48S	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A48S|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A48S	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	48						voltage-gated calcium channel complex	metal ion binding	p.A48S(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCTGTTTTTGCCAGTGTGACA	0.358000													54	197					2.44813e-32	4.66925e-32	0.870114	1	0
FRMPD1	22844	broad.mit.edu	37	9	37744666	37744666	+	Silent	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:37744666A>C	ENST00000539465.1	+	16	3230	c.2637A>C	c.(2635-2637)gcA>gcC	p.A879A	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.A879A			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	879						cytoskeleton|cytosol|plasma membrane		p.A879A(1)		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)		CCCTTGGTGCACCCTCCCCAA	0.607000													13	69					0	0	0.500413	0	0
RAD54B	25788	broad.mit.edu	37	8	95412526	95412526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:95412526C>T	ENST00000336148.5	-	7	1234	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*		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	p.W370*(2)		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)			ATTCTTTCTTCCAATTATTCA	0.378000								Direct reversal of damage;Homologous recombination					42	71					0	0	0.840704	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72027129	72027129	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:72027129T>C	ENST00000378743.3	-	13	2958	c.2600A>G	c.(2599-2601)aAg>aGg	p.K867R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	867					RNA processing	intracellular	metal ion binding	p.K867R(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTAATCTTTGCTTCAGC	0.289000													10	21					0	0	0.335167	0	0
LRP1B	53353	broad.mit.edu	37	2	141459809	141459809	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:141459809T>C	ENST00000389484.3	-	39	7174	c.6203A>G	c.(6202-6204)gAc>gGc	p.D2068G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2068					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2068G(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCTCAAGGTCGATTCTCTC	0.413000										TSP Lung(27;0.18)			43	95					0	0	0.870114	0	0
PAPPA	5069	broad.mit.edu	37	9	118969862	118969862	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:118969862G>A	ENST00000328252.3	+	3	1975	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	536	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.E536K(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATGGGACAAGGAGGCCCTGAT	0.433000													42	56					0	0	0.853193	0	0
OR1D5	8386	broad.mit.edu	37	17	2966145	2966145	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:2966145C>A	ENST00000575751.1	-	1	756	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(4)		kidney(1)|lung(10)	11						GCAAGCGTCCCATAAAAGAGG	0.498000													23	87					3.5997e-14	5.12032e-14	0.624587	1	0
KCNH3	23416	broad.mit.edu	37	12	49949578	49949578	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:49949578G>A	ENST00000257981.6	+	12	2572	c.2312G>A	c.(2311-2313)cGt>cAt	p.R771H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	771					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.R771H(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTATCCCCACGTCGAACAGCA	0.697000													20	26					0	0	0.654019	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235237	137235237	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:137235237C>T	ENST00000508638.1	+	5	612	c.557C>T	c.(556-558)cCt>cTt	p.P186L	PKD2L2_ENST00000350250.4_Missense_Mutation_p.P152L|PKD2L2_ENST00000502810.1_Missense_Mutation_p.P186L|PKD2L2_ENST00000290431.5_Missense_Mutation_p.P186L|PKD2L2_ENST00000508883.1_Missense_Mutation_p.P186L	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	186						integral to membrane	calcium ion binding|ion channel activity	p.P186L(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCAACTCCCCTTGGCACTGG	0.353000													36	51					0	0	0.812448	0	0
FAM222B	55731	broad.mit.edu	37	17	27093631	27093631	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:27093631T>A	ENST00000341217.5	-	2	270	c.55A>T	c.(55-57)Acg>Tcg	p.T19S	FAM222B_ENST00000452648.3_Missense_Mutation_p.T19S|FAM222B_ENST00000582059.1_Missense_Mutation_p.T19S|FAM222B_ENST00000577682.1_Missense_Mutation_p.T19S|FAM222B_ENST00000581381.1_Missense_Mutation_p.T19S|FAM222B_ENST00000582266.1_Missense_Mutation_p.T19S|FAM222B_ENST00000581407.1_Missense_Mutation_p.T19S|FAM222B_ENST00000583522.1_Missense_Mutation_p.T19S|FAM222B_ENST00000583953.1_Missense_Mutation_p.T19S	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	19								p.T19S(4)|p.T19A(1)									TTCATCTGCGTGTGAGAAAGA	0.478000													8	17					0	0	0.307466	0	0
FMN2	56776	broad.mit.edu	37	1	240255646	240255646	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:240255646G>T	ENST00000319653.9	+	1	467	c.237G>T	c.(235-237)cgG>cgT	p.R79R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	79					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.R222R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCAACCTGCGGATCAGGAAGA	0.662000													10	41					4.3838e-07	4.8916e-07	0.435327	1	0
FERD3L	222894	broad.mit.edu	37	7	19184711	19184711	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:19184711G>T	ENST00000275461.3	-	1	333	c.275C>A	c.(274-276)cCc>cAc	p.P92H	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P92H(3)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTTCCTCTTGGGGCGGCCTAA	0.617000													11	46					0.0135373	0.013791	0.411799	1	0
FLG	2312	broad.mit.edu	37	1	152277375	152277375	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:152277375G>C	ENST00000368799.1	-	3	10022	c.9987C>G	c.(9985-9987)gaC>gaG	p.D3329E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3329	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D3329E(2)		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)			AGTGTCTACTGTCTCTGACTG	0.572000									Ichthyosis				296	813					0	0	0.870114	0	0
CTRB2	440387	broad.mit.edu	37	16	75238132	75238132	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:75238132G>T	ENST00000303037.8	-	7	762	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	240	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	p.T240N(2)		endometrium(1)|large_intestine(1)|lung(2)	4						GGGCGTGGTGGTAGAGCAGGT	0.667000													29	100					1.16021e-09	1.40369e-09	0.717897	1	0
RYR1	6261	broad.mit.edu	37	19	38976573	38976573	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:38976573C>A	ENST00000355481.4	+	34	5409	c.5278C>A	c.(5278-5280)Cat>Aat	p.H1760N	RYR1_ENST00000359596.3_Missense_Mutation_p.H1760N|RYR1_ENST00000360985.3_Missense_Mutation_p.H1760N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1760	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.H1760N(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACCCCCGGCATGGCCTGCC	0.642000													14	65					0.00244969	0.00252947	0.457914	1	0
ZMAT1	84460	broad.mit.edu	37	X	101153123	101153123	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:101153123T>A	ENST00000372782.3	-	4	346	c.299A>T	c.(298-300)aAg>aTg	p.K100M	ZMAT1_ENST00000540921.1_Missense_Mutation_p.K100M|ZMAT1_ENST00000458570.1_De_novo_Start_InFrame	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding	p.K100M(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTTCATTTTCTTACCAGGCAC	0.318000													20	39					0	0	0.608945	0	0
ASCC3	10973	broad.mit.edu	37	6	101095256	101095256	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:101095256C>A	ENST00000369162.2	-	21	3668	c.3324G>T	c.(3322-3324)agG>agT	p.R1108S		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1108	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R1108S(2)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GATTCAGGAGCCTGTAGGTCA	0.428000													43	49					9.84934e-19	1.56806e-18	0.853193	1	0
KCNK10	54207	broad.mit.edu	37	14	88658607	88658607	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:88658607C>A	ENST00000340700.5	-	5	1265	c.814G>T	c.(814-816)Gtc>Ttc	p.V272F	KCNK10_ENST00000319231.5_Missense_Mutation_p.V277F|KCNK10_ENST00000312350.5_Missense_Mutation_p.V277F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	272					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.V277F(4)|p.V272F(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GTCAGAGTGACCACCACAAAG	0.542000													30	133					1.74807e-11	2.25471e-11	0.750413	1	0
BTBD11	121551	broad.mit.edu	37	12	108042981	108042981	+	Splice_Site	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:108042981A>T	ENST00000280758.5	+	15	3450		c.e15-1		BTBD11_ENST00000494235.2_Splice_Site|BTBD11_ENST00000357167.4_Splice_Site|BTBD11_ENST00000490090.2_Splice_Site|BTBD11_ENST00000420571.2_Splice_Site	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11							integral to membrane	DNA binding	p.?(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GTTTTCTTCCAGCTGGTTATG	0.468000													57	59					0	0	0.870114	0	0
TNRC6A	27327	broad.mit.edu	37	16	24817548	24817548	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:24817548A>G	ENST00000395799.3	+	16	4402	c.4273A>G	c.(4273-4275)Agg>Ggg	p.R1425G	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1376G	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1425					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.R1425G(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCAGCAGCAAAGGGCGCAGAG	0.512000													25	94					0	0	0.693898	0	0
CNTN1	1272	broad.mit.edu	37	12	41422935	41422935	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:41422935C>G	ENST00000551295.2	+	23	3011	c.2894C>G	c.(2893-2895)cCa>cGa	p.P965R	CNTN1_ENST00000348761.2_Missense_Mutation_p.P954R|CNTN1_ENST00000347616.1_Missense_Mutation_p.P965R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	965	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.P965R(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATAGAAGTCCCAATCCCCAGA	0.448000													70	147					0	0	0.870114	0	0
CSMD1	64478	broad.mit.edu	37	8	2808659	2808659	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:2808659G>T	ENST00000602557.1	-	67	10736	c.10181C>A	c.(10180-10182)tCg>tAg	p.S3394*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S3393*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S3217*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S3217*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S3216*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.S3394*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3394						integral to membrane		p.S3122*(2)|p.S3393*(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCACTGGCGAGGCTTCGCT	0.458000													7	36					1.08611e-07	1.23547e-07	0.387290	1	0
OR2K2	26248	broad.mit.edu	37	9	114090287	114090287	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:114090287G>T	ENST00000374428.1	-	1	513	c.514C>A	c.(514-516)Cgg>Agg	p.R172R	OR2K2_ENST00000302681.1_Silent_p.R143R			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172R(2)|p.R143R(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTAGCCATCCGTGCACAGACG	0.547000													94	80					6.08224e-66	1.2476e-65	0.870114	1	0
ARHGAP5	394	broad.mit.edu	37	14	32560198	32560198	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:32560198G>C	ENST00000345122.3	+	2	638	c.323G>C	c.(322-324)cGg>cCg	p.R108P	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R108P|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R108P|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R108P|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	108					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.R108S(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGCCTCATCGGAGTACGAAT	0.378000													37	124					0	0	0.788014	0	0
OPN5	221391	broad.mit.edu	37	6	47759675	47759675	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:47759675G>T	ENST00000489301.2	+	3	473	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	OPN5_ENST00000371211.2_Missense_Mutation_p.D130Y|OPN5_ENST00000393699.2_Missense_Mutation_p.D130Y|OPN5_ENST00000244799.4_3'UTR			Q6U736	OPN5_HUMAN	opsin 5	130					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.D130Y(2)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTCAGCCTGGATCGATATTT	0.463000													25	53					2.21704e-12	3.00742e-12	0.639603	1	0
AHDC1	27245	broad.mit.edu	37	1	27876408	27876408	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:27876408C>G	ENST00000374011.2	-	6	3187	c.2219G>C	c.(2218-2220)cGc>cCc	p.R740P	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.R740P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	740	Gly-rich.						DNA binding	p.R740P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCGTCTCTTGCGCTTTGGCTT	0.677000													18	69					0	0	0.575678	0	0
GHSR	2693	broad.mit.edu	37	3	172163026	172163026	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:172163026G>T	ENST00000241256.2	-	2	1068	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	342					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.P342P(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCTGGGAGAAGGGTTCGAATC	0.478000													59	199					2.47907e-22	4.18308e-22	0.870114	1	0
SEC23A	10484	broad.mit.edu	37	14	39556195	39556195	+	Silent	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:39556195A>C	ENST00000537403.1	-	2	1217	c.15T>G	c.(13-15)tcT>tcG	p.S5S	SEC23A_ENST00000545328.2_Silent_p.S178S|SEC23A_ENST00000307712.6_Silent_p.S207S|SEC23A_ENST00000536508.1_Silent_p.S81S			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	207					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	p.S207S(2)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTGGTACTTTAGAGAGCCCCA	0.363000													32	70					0	0	0.769981	0	0
MAP2K4	6416	broad.mit.edu	37	17	12044543	12044543	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:12044543C>T	ENST00000415385.3	+	12	1252	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L	MAP2K4_ENST00000353533.5_Missense_Mutation_p.P389L			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	389					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(2)|p.P389L(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GATCAAATGCCAGCTACTCCC	0.408000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								24	58					0	0	0.654019	0	0
NR3C2	4306	broad.mit.edu	37	4	149356498	149356498	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:149356498C>A	ENST00000355292.3	-	2	1877	c.1515G>T	c.(1513-1515)gaG>gaT	p.E505D	NR3C2_ENST00000512865.1_Missense_Mutation_p.E505D|NR3C2_ENST00000511528.1_Missense_Mutation_p.E505D|NR3C2_ENST00000358102.3_Missense_Mutation_p.E505D|NR3C2_ENST00000342437.4_Missense_Mutation_p.E505D|NR3C2_ENST00000344721.4_Missense_Mutation_p.E505D			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	505	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.E505D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGATGCTGGCCTCTGGGTAAT	0.493000													40	136					2.75727e-19	4.41744e-19	0.804634	1	0
TRPA1	8989	broad.mit.edu	37	8	72968044	72968044	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:72968044C>G	ENST00000262209.4	-	11	1448	c.1241G>C	c.(1240-1242)tGt>tCt	p.C414S	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	414						integral to plasma membrane		p.C414S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TAGAGGAGTACACCCATCGTT	0.363000													10	64					0	0	0.457914	0	0
TENM4	26011	broad.mit.edu	37	11	78380866	78380866	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:78380866C>A	ENST00000278550.7	-	32	6986	c.6524G>T	c.(6523-6525)cGa>cTa	p.R2175L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.R2175L(4)|p.R2175Q(1)									CTTCACTACTCGCCCCATGTT	0.498000													15	46					1.15088e-07	1.30524e-07	0.500413	1	0
ZBBX	79740	broad.mit.edu	37	3	167031857	167031857	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:167031857C>A	ENST00000392766.2	-	16	1662	c.1322G>T	c.(1321-1323)gGc>gTc	p.G441V	ZBBX_ENST00000392764.1_Missense_Mutation_p.G412V|ZBBX_ENST00000455345.2_Missense_Mutation_p.G441V|ZBBX_ENST00000307529.5_Missense_Mutation_p.G441V|ZBBX_ENST00000392767.2_Missense_Mutation_p.G441V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	441						intracellular	zinc ion binding	p.G441V(4)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGATGGATGCCATTTTCATA	0.299000													23	108					6.44725e-10	7.85017e-10	0.624587	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													5	94					0	0	0.248553	0	0
SYT12	91683	broad.mit.edu	37	11	66812117	66812117	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:66812117C>A	ENST00000393946.2	+	9	2053	c.891C>A	c.(889-891)gcC>gcA	p.A297A	SYT12_ENST00000525457.1_Silent_p.A297A|SYT12_ENST00000527043.1_Silent_p.A297A			Q8IV01	SYT12_HUMAN	synaptotagmin XII	297	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane		p.A297A(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TCCCCACAGCCGAGCGCCTCA	0.662000													29	93					6.38683e-12	8.46756e-12	0.729181	1	0
NUAK2	81788	broad.mit.edu	37	1	205290708	205290708	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:205290708C>G	ENST00000367157.3	-	1	175	c.49G>C	c.(49-51)Gca>Cca	p.A17P		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	17					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.A17P(2)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCTAGCTCTGCGGCCGAGGGA	0.677000													11	21					0	0	0.361761	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395930	47395930	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:47395930G>T	ENST00000310638.4	-	12	1448	c.1417C>A	c.(1417-1419)Ctg>Atg	p.L473M	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L474M	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	473					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.L473M(2)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGCAGGGTCAGGGCCGTGGCC	0.542000													38	174					6.2361e-21	1.03392e-20	0.834066	1	0
SPPL2C	162540	broad.mit.edu	37	17	43922293	43922293	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:43922293C>T	ENST00000329196.5	+	1	38	c.21C>T	c.(19-21)ctC>ctT	p.L7L	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	7						integral to membrane	aspartic-type endopeptidase activity	p.L7L(2)									TGGGCTTCCTCCTCCCCGTGG	0.627000													19	74					0	0	0.557998	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713410	222713410	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:222713410C>A	ENST00000343410.6	-	4	1450	c.1392G>T	c.(1390-1392)tgG>tgT	p.W464C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	464					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.W464C(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCTTTGCTCTCCAGCCATAGT	0.488000													47	150					3.21987e-24	5.5816e-24	0.870114	1	0
SLC27A6	28965	broad.mit.edu	37	5	128324424	128324424	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:128324424C>A	ENST00000262462.4	+	3	1827	c.817C>A	c.(817-819)Ctg>Atg	p.L273M	SLC27A6_ENST00000506176.1_Missense_Mutation_p.L273M|SLC27A6_ENST00000395266.1_Missense_Mutation_p.L273M			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	273					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.L273M(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCAGCTATCCTGGGAATTTC	0.358000													69	170					6.52717e-41	1.2802e-40	0.870114	1	0
GIMAP8	155038	broad.mit.edu	37	7	150174417	150174417	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:150174417G>T	ENST00000307271.3	+	5	2121	c.1547G>T	c.(1546-1548)cGc>cTc	p.R516L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	516						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R516L(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAGGTCAAGCGCTGTTTGTCC	0.522000													29	71					2.48779e-11	3.1926e-11	0.693898	1	0
TEX13A	56157	broad.mit.edu	37	X	104465059	104465059	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:104465059G>C	ENST00000372578.3	-	2	134	c.23C>G	c.(22-24)cCc>cGc	p.P8R	TEX13A_ENST00000413579.1_Missense_Mutation_p.P8R|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.P8R	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	8						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCGCTACTGGGGTCCTCAGG	0.537000													18	21					0	0	0.557998	0	0
MXRA5	25878	broad.mit.edu	37	X	3248432	3248432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:3248432G>T	ENST00000217939.6	-	4	490	c.336C>A	c.(334-336)taC>taA	p.Y112*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	112						extracellular region		p.Y112*(4)		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)				TCAGCTTGTTGTAGCTGAACT	0.428000													7	13					8.12818e-05	8.62699e-05	0.248553	1	0
MAPK4	5596	broad.mit.edu	37	18	48248367	48248367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:48248367G>T	ENST00000400384.2	+	4	1787	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	MAPK4_ENST00000540640.1_Nonsense_Mutation_p.E40*|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	251	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.E251*(2)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AATCCGGGAGGAAGACAAGGA	0.577000													14	62					0.00185496	0.00193108	0.435327	1	0
DOCK9	23348	broad.mit.edu	37	13	99520213	99520213	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:99520213T>C	ENST00000376460.1	-	29	3223	c.3143A>G	c.(3142-3144)tAc>tGc	p.Y1048C	DOCK9_ENST00000448493.2_Missense_Mutation_p.Y1060C|DOCK9_ENST00000339416.2_Missense_Mutation_p.Y1049C|DOCK9_ENST00000442173.1_Missense_Mutation_p.Y1048C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1049					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.Y1049C(2)|p.Y1060C(2)|p.Y1048C(2)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACAGCTAATGTAGTTGTTGAT	0.428000													13	14					0	0	0.435327	0	0
OR4A15	81328	broad.mit.edu	37	11	55136164	55136164	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:55136164G>T	ENST00000314706.3	+	1	805	c.805G>T	c.(805-807)Gca>Tca	p.A269S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A269S(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTACACCTGTGCATCCCACGT	0.423000													69	232					6.75472e-32	1.28188e-31	0.870114	1	0
CYLD	1540	broad.mit.edu	37	16	50788335	50788335	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:50788335G>T	ENST00000540145.1	+	6	1328	c.913_splice	c.e6+1	p.A305_splice	CYLD_ENST00000566206.1_Splice_Site_p.E305_splice|CYLD_ENST00000569418.1_Splice_Site_p.E305_splice|CYLD_ENST00000568704.2_Splice_Site_p.E305_splice|CYLD_ENST00000398568.2_Splice_Site_p.E305_splice|CYLD_ENST00000311559.9_Splice_Site_p.A305_splice|CYLD_ENST00000427738.3_Splice_Site_p.A305_splice|CYLD_ENST00000564326.1_Splice_Site_p.E305_splice			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	305	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.A305S(2)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TATCATCCCAGGTATGTTTTC	0.328000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				31	44					3.99451e-17	6.10406e-17	0.740014	1	0
FARP2	9855	broad.mit.edu	37	2	242402803	242402803	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:242402803G>T	ENST00000264042.3	+	16	1901	c.1731G>T	c.(1729-1731)acG>acT	p.T577T	FARP2_ENST00000545004.1_Silent_p.T577T|FARP2_ENST00000373287.4_Silent_p.T577T	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	577	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.T577T(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CTCTGATGACGCTGCTCTTCT	0.597000													25	76					4.16121e-05	4.44135e-05	0.639603	1	0
SLC9C1	285335	broad.mit.edu	37	3	111870801	111870801	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:111870801G>T	ENST00000305815.5	-	28	3679	c.3427C>A	c.(3427-3429)Cac>Aac	p.H1143N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.H1095N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1143					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.H1143N(2)									GCGGCACTGTGTGCTCCATCC	0.522000													25	73					9.57634e-11	1.21056e-10	0.654019	1	0
C20orf26	26074	broad.mit.edu	37	20	20269349	20269349	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:20269349A>G	ENST00000245957.5	+	23	2969	c.2893A>G	c.(2893-2895)Acc>Gcc	p.T965A	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	965								p.T965A(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGTGATTGATACCAACTTCCA	0.433000													58	158					0	0	0.870114	0	0
CCDC112	153733	broad.mit.edu	37	5	114611088	114611088	+	Missense_Mutation	SNP	C	C	A	rs141845700		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:114611088C>A	ENST00000379611.5	-	6	1030	c.743G>T	c.(742-744)gGt>gTt	p.G248V	CCDC112_ENST00000512261.1_Missense_Mutation_p.G165V|CCDC112_ENST00000395557.4_Missense_Mutation_p.G165V|CCDC112_ENST00000506442.1_Missense_Mutation_p.G165V|CCDC112_ENST00000503027.1_5'UTR	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	165								p.G248V(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ATCCCAGGCACCTTGTCGCCC	0.408000													55	139					1.86277e-20	3.0617e-20	0.870114	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125281944	125281944	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:125281944G>T	ENST00000431078.1	+	9	1753	c.1389G>T	c.(1387-1389)acG>acT	p.T463T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	463	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T463T(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCGCATCACGCTCACTCTGG	0.493000													23	77					3.62473e-10	4.44907e-10	0.608945	1	0
FAT3	120114	broad.mit.edu	37	11	92620173	92620173	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:92620173G>A	ENST00000298047.6	+	24	12962	c.12945G>A	c.(12943-12945)ggG>ggA	p.G4315G	FAT3_ENST00000409404.2_Silent_p.G4315G|FAT3_ENST00000533797.1_Silent_p.G650G|FAT3_ENST00000525166.1_Silent_p.G4165G|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4315					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.G4315G(4)|p.G890G(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGACAAAGGGGTTGATGACC	0.493000										TCGA Ovarian(4;0.039)			8	14					0	0	0.278610	0	0
ATP7A	538	broad.mit.edu	37	X	77245130	77245130	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:77245130G>T	ENST00000341514.6	+	4	1167	c.1012G>T	c.(1012-1014)Gta>Tta	p.V338L	ATP7A_ENST00000343533.5_Missense_Mutation_p.V338L|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	338	HMA 3.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.V338L(4)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AATAGAGGCTGTATCACCGGG	0.418000													171	114					7.43762e-64	1.51743e-63	0.870114	1	0
KCNC4	3749	broad.mit.edu	37	1	110754218	110754218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:110754218G>T	ENST00000369787.3	+	1	124	c.97G>T	c.(97-99)Gag>Tag	p.E33*	KCNC4_ENST00000438661.2_Nonsense_Mutation_p.E33*|KCNC4_ENST00000413138.3_Nonsense_Mutation_p.E33*	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	33					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E33*(4)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCCAAGGGCGAGGCGTCGGA	0.627000													12	39					5.50884e-06	6.02331e-06	0.411799	1	0
FLYWCH2	114984	broad.mit.edu	37	16	2946482	2946482	+	Missense_Mutation	SNP	G	G	T	rs145971095		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:2946482G>T	ENST00000396958.3	+	3	412	c.32G>T	c.(31-33)gGt>gTt	p.G11V	FLYWCH2_ENST00000572006.1_Missense_Mutation_p.G11V|FLYWCH2_ENST00000293981.6_Missense_Mutation_p.G11V	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	11								p.G11F(2)		central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						GAGCAGGAGGGTGAGAGTGTG	0.657000													26	61					3.6726e-16	5.4801e-16	0.667858	1	0
WDR49	151790	broad.mit.edu	37	3	167322244	167322244	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:167322244G>T	ENST00000453925.2	-	2	141	c.107C>A	c.(106-108)gCa>gAa	p.A36E	WDR49_ENST00000308378.3_5'UTR|WDR49_ENST00000479765.1_Missense_Mutation_p.A324E			Q8IV35	WDR49_HUMAN	WD repeat domain 49	158										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTCTAAAGATGCATTGTAAGT	0.313000													14	49					4.3838e-07	4.8916e-07	0.435327	1	0
SLFN13	146857	broad.mit.edu	37	17	33768287	33768287	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:33768287C>G	ENST00000285013.6	-	6	2296	c.2021G>C	c.(2020-2022)cGt>cCt	p.R674P	SLFN13_ENST00000542635.1_Missense_Mutation_p.R674P|SLFN13_ENST00000534689.1_Missense_Mutation_p.R356P|SLFN13_ENST00000533791.1_Missense_Mutation_p.R674P|SLFN13_ENST00000526861.1_Missense_Mutation_p.R674P|SLFN13_ENST00000360502.2_Missense_Mutation_p.R356P	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	674						intracellular	ATP binding	p.R674P(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCTTCAGTACGGAAATTCTG	0.433000													55	169					0	0	0.870114	0	0
PAPPA	5069	broad.mit.edu	37	9	118982315	118982315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:118982315C>A	ENST00000328252.3	+	5	2387	c.2018C>A	c.(2017-2019)gCg>gAg	p.A673E	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	673					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.A673E(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGGAAACCAGCGCCTGTTGCC	0.572000													127	284					2.68169e-52	5.42758e-52	0.870114	1	0
SLC2A3	6515	broad.mit.edu	37	12	8075422	8075422	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:8075422C>A	ENST00000075120.7	-	9	1507	c.1267G>T	c.(1267-1269)Gct>Tct	p.A423S		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	423					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.A423S(2)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CTTACAGCAGCGGAGGGGAAG	0.547000													23	63					6.44725e-10	7.85017e-10	0.624587	1	0
TRPV4	59341	broad.mit.edu	37	12	110232179	110232179	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:110232179C>A	ENST00000418703.2	-	7	1540	c.1446G>T	c.(1444-1446)atG>atT	p.M482I	TRPV4_ENST00000261740.2_Missense_Mutation_p.M482I|TRPV4_ENST00000346520.2_Missense_Mutation_p.M422I|TRPV4_ENST00000392719.2_Missense_Mutation_p.M435I|TRPV4_ENST00000544971.1_Missense_Mutation_p.M375I|TRPV4_ENST00000536838.1_Missense_Mutation_p.M448I|TRPV4_ENST00000541794.1_Missense_Mutation_p.M435I|TRPV4_ENST00000537083.1_Missense_Mutation_p.M422I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	482					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.M482I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGAAGATGACCATGGCACACA	0.632000													46	68					5.48756e-27	9.87242e-27	0.859065	1	0
SULF2	55959	broad.mit.edu	37	20	46313275	46313275	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:46313275C>A	ENST00000359930.4	-	6	1639	c.788G>T	c.(787-789)cGc>cTc	p.R263L	SULF2_ENST00000361612.4_Missense_Mutation_p.R263L|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000467815.1_Missense_Mutation_p.R263L|SULF2_ENST00000484875.1_Missense_Mutation_p.R263L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	263					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.R263L(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCCCGTGTAGCGCATGATCCA	0.597000													19	54					1.50039e-11	1.94183e-11	0.608945	1	0
A2M	2	broad.mit.edu	37	12	9225296	9225296	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:9225296C>A	ENST00000318602.7	-	30	4235	c.3928G>T	c.(3928-3930)Ggg>Tgg	p.G1310W		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1310					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.G1310W(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTGTATTCCCCAGGCAGCTCT	0.517000													52	154					2.23044e-30	4.1807e-30	0.870114	1	0
OR4C6	219432	broad.mit.edu	37	11	55432926	55432926	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:55432926G>C	ENST00000314259.3	+	1	313	c.284G>C	c.(283-285)tGc>tCc	p.C95S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95S(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAAAGGCTGCCTCACCCAG	0.527000													40	160					0	0	0.819951	0	0
KCNQ2	3785	broad.mit.edu	37	20	62044883	62044883	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:62044883G>C	ENST00000354587.3	-	13	1775	c.1599C>G	c.(1597-1599)ccC>ccG	p.P533P	KCNQ2_ENST00000357249.2_Silent_p.P543P|KCNQ2_ENST00000370222.3_Silent_p.P533P|KCNQ2_ENST00000359125.2_Silent_p.P561P|KCNQ2_ENST00000344462.3_Silent_p.P521P|KCNQ2_ENST00000430658.1_Silent_p.P530P|KCNQ2_ENST00000360480.3_Silent_p.P533P|KCNQ2_ENST00000370226.1_Silent_p.P531P|KCNQ2_ENST00000359689.1_Silent_p.P561P|KCNQ2_ENST00000370224.1_Silent_p.P533P			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	561					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P561P(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TCACGTCGTAGGGCCGCAGGC	0.652000													63	170					0	0	0.870114	0	0
MANBA	4126	broad.mit.edu	37	4	103553402	103553402	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:103553402C>T	ENST00000226578.4	-	17	2551	c.2452G>A	c.(2452-2454)Gac>Aac	p.D818N	MANBA_ENST00000505239.1_Missense_Mutation_p.D761N	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	818					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.D818N(2)|p.D818H(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTCTCCAGGTCAAAAACAAAT	0.418000													34	113					0	0	0.750413	0	0
CAPN13	92291	broad.mit.edu	37	2	30955326	30955326	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:30955326C>A	ENST00000295055.8	-	20	2081	c.1905G>T	c.(1903-1905)ctG>ctT	p.L635L	CAPN13_ENST00000534090.2_Silent_p.L635L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	635					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.L635L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CAAGCCGCATCAGGAAGCAGA	0.607000													12	17					2.61681e-11	3.34688e-11	0.457914	1	0
SCGN	10590	broad.mit.edu	37	6	25669751	25669751	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:25669751T>A	ENST00000377961.2	+	5	517	c.349T>A	c.(349-351)Tat>Aat	p.Y117N	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	117	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding	p.Y117N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTGGCGCAAATATGACGCTGA	0.398000													31	92					0	0	0.760397	0	0
PCBP3	54039	broad.mit.edu	37	21	47360037	47360037	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:47360037G>A	ENST00000400314.1	+	15	1341	c.1003G>A	c.(1003-1005)Ggg>Agg	p.G335R	PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400308.1_Missense_Mutation_p.G309R|PCBP3_ENST00000400309.1_Missense_Mutation_p.G334R|PCBP3_ENST00000400304.1_Missense_Mutation_p.G325R|PCBP3_ENST00000449640.1_Missense_Mutation_p.G335R|PCBP3_ENST00000400310.1_Missense_Mutation_p.G315R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	335	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.G303R(2)|p.G335R(2)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CGCCACGGAAGGGTCCTCAGA	0.527000													44	86					0	0	0.853193	0	0
RYR2	6262	broad.mit.edu	37	1	237713847	237713847	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:237713847G>T	ENST00000366574.2	+	27	3387	c.3070G>T	c.(3070-3072)Gta>Tta	p.V1024L	RYR2_ENST00000542537.1_Missense_Mutation_p.V1008L|RYR2_ENST00000360064.6_Missense_Mutation_p.V1022L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1024	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V1022L(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTGCAGGACGTAAAGAACAG	0.463000													5	13					0.014758	0.0149744	0.184627	1	0
SDE2	163859	broad.mit.edu	37	1	226176062	226176062	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:226176062T>G	ENST00000272091.7	-	6	687	c.669A>C	c.(667-669)gcA>gcC	p.A223A	SDE2_ENST00000366817.1_Silent_p.A128A	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)									p.A223A(2)|p.A211A(2)									TGGACCCTTCTGCAGTCTCTA	0.473000													58	131					0	0	0.870114	0	0
PAX3	5077	broad.mit.edu	37	2	223158469	223158469	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:223158469G>C	ENST00000258387.5	-	5	843	c.594C>G	c.(592-594)gcC>gcG	p.A198A	PAX3_ENST00000392070.2_Intron|PAX3_ENST00000409551.3_Intron|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000350526.4_Intron|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000392069.2_Intron|PAX3_ENST00000409828.3_3'UTR	NM_013942.4	NP_039230.1	P23760	PAX3_HUMAN	paired box 3	198					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A198A(2)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGAGACCAGGGCCTTTCCTG	0.488000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						70	196					0	0	0.870114	0	0
POLR1B	84172	broad.mit.edu	37	2	113304689	113304689	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:113304689G>C	ENST00000263331.5	+	2	858	c.278G>C	c.(277-279)tGc>tCc	p.C93S	POLR1B_ENST00000417433.2_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.C93S|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.C131S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	93					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.C93S(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGGACCATCTGCAAAGAGGCC	0.458000													26	90					0	0	0.667858	0	0
SORCS3	22986	broad.mit.edu	37	10	106960961	106960961	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:106960961A>G	ENST00000369701.3	+	16	2438	c.2211A>G	c.(2209-2211)tcA>tcG	p.S737S	SORCS3_ENST00000369699.4_Silent_p.S23S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	737						integral to membrane	neuropeptide receptor activity	p.S737S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGACCACTCAGGATCAGTGG	0.493000													53	114					0	0	0.870114	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123170627	123170627	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:123170627C>A	ENST00000349780.4	-	31	4903	c.4724G>T	c.(4723-4725)aGa>aTa	p.R1575I	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1543I|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1575I|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1534I	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1575					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.R1575I(2)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAGTACCTCTCAGTCTCCT	0.562000													13	135					0.0202918	0.020562	0.457914	1	0
AKAP17A	8227	broad.mit.edu	37	X	1719992	1719992	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:1719992G>T	ENST00000313871.3	+	5	1789	c.1593G>T	c.(1591-1593)gtG>gtT	p.V531V		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	531					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.V531V(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CCTGTCGTGTGGTCCCCGAGG	0.667000													6	47					3.59834e-05	3.85681e-05	0.217242	1	0
STK32C	282974	broad.mit.edu	37	10	134040330	134040330	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:134040330C>A	ENST00000368622.1	-	4	643	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	STK32C_ENST00000368625.4_Missense_Mutation_p.D218Y			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	205							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.D205Y(2)|p.D218Y(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CGCAGGTAGTCCAGAGCCAGT	0.642000													20	61					7.45023e-12	9.82603e-12	0.592651	1	0
ALB	213	broad.mit.edu	37	4	74283925	74283925	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:74283925G>C	ENST00000295897.4	+	12	1638	c.1549G>C	c.(1549-1551)Gtc>Ctc	p.V517L	ALB_ENST00000509063.1_Missense_Mutation_p.V517L|ALB_ENST00000415165.2_Missense_Mutation_p.V325L|ALB_ENST00000401494.3_Missense_Mutation_p.V402L|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.V367L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	517	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.V517L(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGCTCTGGAAGTCGATGAAAC	0.428000													42	128					0	0	0.859065	0	0
CELA2B	51032	broad.mit.edu	37	1	15809791	15809791	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:15809791C>A	ENST00000375910.3	+	5	414	c.389C>A	c.(388-390)cCc>cAc	p.P130H	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	130	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P130H(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CTGGCTAACCCCGTCTCCCTC	0.612000													29	94					2.81731e-10	3.48614e-10	0.750413	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128956400	128956400	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:128956400G>T	ENST00000274487.4	+	9	1695	c.1550G>T	c.(1549-1551)gGt>gTt	p.G517V	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	517	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G517V(2)		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)		CAGAATCTTGGTGACGTTTCA	0.418000													55	131					1.54886e-18	2.45559e-18	0.870114	1	0
SCN2A	6326	broad.mit.edu	37	2	166198918	166198918	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:166198918G>T	ENST00000375437.2	+	15	2791	c.2501G>T	c.(2500-2502)aGt>aTt	p.S834I	SCN2A_ENST00000283256.6_Missense_Mutation_p.S834I|SCN2A_ENST00000375427.2_Missense_Mutation_p.S834I|SCN2A_ENST00000357398.3_Missense_Mutation_p.S834I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	834					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S834I(4)		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)	GTGAGCCTTAGTTTAATGGAA	0.358000													43	128					6.68952e-21	1.10668e-20	0.864702	1	0
CRISP1	167	broad.mit.edu	37	6	49806202	49806202	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:49806202C>G	ENST00000335847.4	-	7	671	c.570G>C	c.(568-570)aaG>aaC	p.K190N	CRISP1_ENST00000536021.1_Intron|CRISP1_ENST00000505118.1_Missense_Mutation_p.K190N|CRISP1_ENST00000355791.2_Missense_Mutation_p.K190N|CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000507853.1_Intron	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	190					fusion of sperm to egg plasma membrane	extracellular space		p.K190N(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGACGCCTGTCTTATAAGGTT	0.358000													9	130					0	0	0.361761	0	0
PKNOX2	63876	broad.mit.edu	37	11	125301253	125301253	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:125301253G>T	ENST00000298282.9	+	13	1655	c.1384G>T	c.(1384-1386)Gac>Tac	p.D462Y	PKNOX2_ENST00000542175.1_Missense_Mutation_p.D398Y|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	462						nucleus	sequence-specific DNA binding transcription factor activity	p.D462Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AAATGTCAGCGACCTGGGCTT	0.587000													15	53					6.31663e-08	7.2285e-08	0.479597	1	0
CYP2W1	54905	broad.mit.edu	37	7	1026291	1026291	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:1026291T>A	ENST00000340150.6	+	5	531	c.509T>A	c.(508-510)cTg>cAg	p.L170Q	CYP2W1_ENST00000308919.7_Missense_Mutation_p.L226Q			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	226					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.L226Q(1)		breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTCGGGGCCCTGCTCCAGCTG	0.697000													13	68					0	0	0.435327	0	0
NPAP1	23742	broad.mit.edu	37	15	24922547	24922547	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:24922547C>A	ENST00000329468.2	+	1	2007	c.1533C>A	c.(1531-1533)gtC>gtA	p.V511V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.V511V(2)									AGCCTCCCGTCACAAGGGAGT	0.537000													113	284					1.30845e-55	2.66238e-55	0.870114	1	0
DLL1	28514	broad.mit.edu	37	6	170594720	170594720	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:170594720T>A	ENST00000366756.3	-	6	1132	c.799A>T	c.(799-801)Acc>Tcc	p.T267S		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	267	EGF-like 2.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	p.T267S(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGCTGGCAGGTGCCATGGAGA	0.607000													14	52					0	0	0.693898	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42394865	42394865	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:42394865C>G	ENST00000225441.7	+	11	1448	c.1211C>G	c.(1210-1212)cCa>cGa	p.P404R	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.P399R|RUNDC3A_ENST00000426726.3_Intron	NM_001144826.1|NM_006695.4	NP_001138298.1|NP_006686.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	0					small GTPase mediated signal transduction		small GTPase regulator activity	p.P404R(2)		large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		agctcagagccaaattagtgg	0.493000													13	52					0	0	0.479597	0	0
MS4A4A	51338	broad.mit.edu	37	11	60064675	60064675	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:60064675G>T	ENST00000355131.3	+	4	373	c.150G>T	c.(148-150)gtG>gtT	p.V50V	MS4A4A_ENST00000395016.3_Silent_p.V50V|MS4A4A_ENST00000337908.4_Silent_p.V69V|MS4A4A_ENST00000532114.1_Silent_p.V69V	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	69						integral to membrane	receptor activity	p.V50V(2)|p.V69V(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TTTAGGTTGTGCAGATTCTGA	0.423000													36	112					1.836e-18	2.89875e-18	0.788014	1	0
SLC26A8	116369	broad.mit.edu	37	6	35980029	35980029	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:35980029G>A	ENST00000490799.1	-	3	662	c.309C>T	c.(307-309)ggC>ggT	p.G103G	SLC26A8_ENST00000355574.2_Silent_p.G103G|SLC26A8_ENST00000394602.2_Silent_p.G103G	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	103					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						CTTGCACAAGGCCAACACTTA	0.438000													7	264					0	0	0.248553	0	0
PIK3R4	30849	broad.mit.edu	37	3	130425910	130425910	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:130425910G>A	ENST00000356763.3	-	11	3160	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	868					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.P868L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CATGTTTGGTGGGTCCAGTGA	0.443000													15	52					0	0	0.500413	0	0
PAX2	5076	broad.mit.edu	37	10	102509514	102509514	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:102509514G>A	ENST00000370296.2	+	2	605	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	PAX2_ENST00000556085.1_Missense_Mutation_p.G18S|PAX2_ENST00000361791.3_Missense_Mutation_p.G19S|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000428433.1_Missense_Mutation_p.G19S|PAX2_ENST00000355243.3_Missense_Mutation_p.G19S			Q02962	PAX2_HUMAN	paired box 2	19	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.G19S(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGGGCACGGGGGTGTGAACCA	0.672000													22	48					0	0	0.654019	0	0
TTN	7273	broad.mit.edu	37	2	179452755	179452755	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:179452755G>C	ENST00000589042.1	-	305	63603	c.63379C>G	c.(63379-63381)Cgc>Ggc	p.R21127G	TTN_ENST00000460472.2_Missense_Mutation_p.R12062G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18559G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12187G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12254G|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19486G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19486	Fibronectin type-III 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R18559G(2)|p.R12187G(2)|p.R18557G(2)|p.R12062G(2)|p.R12254G(2)		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)			AATTCCTTGCGTACAAGCTGT	0.473000													8	62					0	0	0.278610	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416157	5416157	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:5416157C>A	ENST00000341928.2	-	13	2067	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R576I|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	576	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.R576I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGTTTGCTGTCTGTAGCTAAA	0.577000													41	132					1.22674e-20	2.02506e-20	0.840704	1	0
DNAH10	196385	broad.mit.edu	37	12	124364246	124364246	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:124364246G>A	ENST00000409039.3	+	49	8203	c.8178G>A	c.(8176-8178)agG>agA	p.R2726R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2726					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1318R(2)|p.R2726R(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGTGATGAGGGATCCCATAT	0.493000													109	184					0	0	0.870114	0	0
RUNX1T1	862	broad.mit.edu	37	8	93004039	93004039	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:93004039G>T	ENST00000523629.1	-	7	1273	c.819C>A	c.(817-819)ggC>ggA	p.G273G	RUNX1T1_ENST00000518844.1_Silent_p.G246G|RUNX1T1_ENST00000422361.2_Silent_p.G236G|RUNX1T1_ENST00000436581.2_Silent_p.G284G|RUNX1T1_ENST00000396218.1_Silent_p.G246G|RUNX1T1_ENST00000360348.2_Silent_p.G236G|RUNX1T1_ENST00000265814.3_Silent_p.G273G|RUNX1T1_ENST00000520724.1_Silent_p.G236G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	273					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G273G(2)|p.G284G(2)|p.G236G(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTACCGCTGGCCTGGGCTAA	0.507000													36	97					2.48696e-23	4.25298e-23	0.779181	1	0
MDC1	9656	broad.mit.edu	37	6	30680116	30680116	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:30680116T>C	ENST00000376406.3	-	5	2250	c.1603A>G	c.(1603-1605)Att>Gtt	p.I535V	MDC1_ENST00000376405.2_Missense_Mutation_p.I535V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	535	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.I535V(2)		breast(2)|kidney(1)|ovary(1)	4						ATATGTATAATGGCTGACCCT	0.502000								Other conserved DNA damage response genes					19	123					0	0	0.834066	0	0
LIG1	3978	broad.mit.edu	37	19	48653099	48653099	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:48653099C>A	ENST00000263274.7	-	9	1117		c.e9-1		LIG1_ENST00000599165.1_Splice_Site|LIG1_ENST00000536218.1_Splice_Site|LIG1_ENST00000427526.2_Splice_Site	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent						anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.?(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TTCCGGGGGGCTAGGAATGAA	0.582000								Nucleotide excision repair (NER)					3	24					0.004672	0.00479163	0.115264	1	0
OR13G1	441933	broad.mit.edu	37	1	247835510	247835510	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:247835510C>A	ENST00000359688.2	-	1	855	c.834G>T	c.(832-834)gtG>gtT	p.V278V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V278V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGTGGGAGTCACAAGAGTAT	0.438000													60	112					1.1362e-29	2.11405e-29	0.870114	1	0
ATOH8	84913	broad.mit.edu	37	2	85991289	85991289	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:85991289G>C	ENST00000306279.3	+	2	1240	c.944G>C	c.(943-945)cGt>cCt	p.R315P	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	315					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R315P(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCGAGGGACGTGCCAAGAAG	0.657000													11	80					0	0	0.479597	0	0
LVRN	206338	broad.mit.edu	37	5	115346543	115346543	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:115346543G>T	ENST00000357872.4	+	14	2323	c.2199G>T	c.(2197-2199)agG>agT	p.R733S		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		733					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.R733S(2)									TGGTAACCAGGGATCTTGTTT	0.308000													19	37					1.33834e-09	1.61151e-09	0.557998	1	0
PER2	8864	broad.mit.edu	37	2	239164502	239164502	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:239164502C>A	ENST00000254657.3	-	18	2395	c.2116G>T	c.(2116-2118)Ggc>Tgc	p.G706C	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	706	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.G706C(2)		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)		AGGGCAGGGCCCGCCAGGCAG	0.587000													36	185					2.75727e-19	4.41744e-19	0.804634	1	0
LATS2	26524	broad.mit.edu	37	13	21565435	21565435	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:21565435G>A	ENST00000382592.4	-	3	856	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	LATS2_ENST00000542899.1_Missense_Mutation_p.R151W|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	151					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTAATGACCCGCACAATCTGC	0.582000													4	145					0	0	0.150653	0	0
MRPL39	54148	broad.mit.edu	37	21	26969716	26969716	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:26969716C>A	ENST00000307301.7	-	6	640	c.599G>T	c.(598-600)cGt>cTt	p.R200L	MRPL39_ENST00000352957.4_Missense_Mutation_p.R200L	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	200						mitochondrial ribosome	nucleotide binding	p.R200L(4)		endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TGTGAAGGAACGTAAGTTCTC	0.328000													10	15					4.68919e-08	5.39044e-08	0.361761	1	0
ADH1B	125	broad.mit.edu	37	4	100235229	100235229	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:100235229C>A	ENST00000305046.8	-	6	644	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	ADH1B_ENST00000394887.3_Missense_Mutation_p.G153C			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	193					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.G193C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGGTAGAGCCTGGGGTGACC	0.468000													66	239					4.13886e-29	7.62633e-29	0.870114	1	0
TEX2	55852	broad.mit.edu	37	17	62230430	62230430	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:62230430C>G	ENST00000258991.3	-	10	3120	c.3036G>C	c.(3034-3036)gaG>gaC	p.E1012D	TEX2_ENST00000581812.1_5'UTR|TEX2_ENST00000584379.1_Missense_Mutation_p.E1005D|TEX2_ENST00000583097.1_Missense_Mutation_p.E1005D			Q8IWB9	TEX2_HUMAN	testis expressed 2	1005					signal transduction|sphingolipid metabolic process	integral to membrane		p.E1012D(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAAACTCTGTCTCTGTTGCTT	0.388000													16	88					0	0	0.479597	0	0
AGBL1	123624	broad.mit.edu	37	15	86702201	86702201	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:86702201G>T	ENST00000441037.2	+	4	389	c.294G>T	c.(292-294)atG>atT	p.M98I	AGBL1_ENST00000421325.2_Missense_Mutation_p.M98I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	98					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.M98I(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGGAGCCATGGAACTGCTTT	0.443000													38	82					4.4882e-36	8.71306e-36	0.847076	1	0
SLC39A6	25800	broad.mit.edu	37	18	33706321	33706321	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:33706321T>A	ENST00000269187.5	-	2	863	c.650A>T	c.(649-651)gAt>gTt	p.D217V	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.D217V	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	217						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.D217V(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GCTGCTTACATCTTTGGGGAA	0.498000													68	159					0	0	0.870114	0	0
CNGA1	1259	broad.mit.edu	37	4	47939673	47939673	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:47939673G>C	ENST00000402813.3	-	10	1187	c.1045C>G	c.(1045-1047)Cgt>Ggt	p.R349G	CNGA1_ENST00000544810.1_Missense_Mutation_p.R280G|CNGA1_ENST00000358519.4_Missense_Mutation_p.R280G|CNGA1_ENST00000514170.1_Missense_Mutation_p.R280G|CNGA1_ENST00000420489.2_Missense_Mutation_p.R280G			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	280					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	p.R280G(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCAAACATACGAGAGAACCGT	0.363000													36	95					0	0	0.788014	0	0
PAG1	55824	broad.mit.edu	37	8	81905543	81905543	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:81905543C>A	ENST00000220597.4	-	4	631		c.e4-1			NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1						epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGCTGTGTCCTGCAAAGAGA	0.572000													10	18					7.48243e-07	8.30048e-07	0.335167	1	0
ITPKB	3707	broad.mit.edu	37	1	226822507	226822507	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:226822507C>A	ENST00000429204.1	-	8	3033	c.2706G>T	c.(2704-2706)acG>acT	p.T902T	ITPKB_ENST00000272117.3_Silent_p.T902T	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	902							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.T902T(2)|p.T428T(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGGCAGGGGCGTGGTTTTCC	0.597000													18	49					1.33834e-09	1.61151e-09	0.557998	1	0
DPT	1805	broad.mit.edu	37	1	168670292	168670292	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:168670292T>A	ENST00000367817.3	-	3	591	c.502A>T	c.(502-504)Atc>Ttc	p.I168F		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	168	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix		p.I168F(2)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GCTCCTCGGATATAGTAATCA	0.443000													58	206					0	0	0.870114	0	0
ACP5	54	broad.mit.edu	37	19	11687570	11687570	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:11687570A>T	ENST00000592828.1	-	5	752	c.350T>A	c.(349-351)gTc>gAc	p.V117D	ACP5_ENST00000433365.2_Missense_Mutation_p.V117D|ACP5_ENST00000412435.2_Missense_Mutation_p.V117D|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.V117D	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	117					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	p.V117D(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CTGGGCAGAGACATTGCCAAG	0.562000													26	145					0	0	0.706142	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563130	129563130	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:129563130C>A	ENST00000422113.2	-	8	2390	c.2064G>T	c.(2062-2064)agG>agT	p.R688S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R226S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	688						integral to membrane		p.R688S(2)		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)		CAAAGATGGCCCTGTTGCTTC	0.582000													56	82					4.17463e-26	7.40534e-26	0.870114	1	0
NAPB	63908	broad.mit.edu	37	20	23370621	23370621	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:23370621G>C	ENST00000377026.4	-	7	608	c.523C>G	c.(523-525)Ctt>Gtt	p.L175V	NAPB_ENST00000398425.3_Missense_Mutation_p.L81V|NAPB_ENST00000432543.2_Missense_Mutation_p.L136V|NAPB_ENST00000472855.1_5'UTR	NM_022080.2	NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	175					intracellular protein transport|vesicle-mediated transport	membrane		p.L175V(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					TACTGCTCAAGCTGGGCAGCA	0.398000													20	104					0	0	0.608945	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033148	82033148	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:82033148C>A	ENST00000328945.5	-	3	877	c.750G>T	c.(748-750)caG>caT	p.Q250H		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	250					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	p.Q250H(2)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						TGAAGTAGGGCTGCCCAGAGG	0.567000													64	271					2.6711e-34	5.10731e-34	0.870114	1	0
FBXL7	23194	broad.mit.edu	37	5	15936573	15936573	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:15936573A>C	ENST00000504595.1	+	4	1235	c.754A>C	c.(754-756)Acc>Ccc	p.T252P	FBXL7_ENST00000510662.1_Missense_Mutation_p.T205P|FBXL7_ENST00000329673.7_Missense_Mutation_p.T240P	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	252					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.T252P(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTCCAAAGTGACCTGCATCAG	0.577000													17	31					0	0	0.520397	0	0
TRIM58	25893	broad.mit.edu	37	1	248028078	248028078	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:248028078G>A	ENST00000366481.3	+	3	636	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	196						intracellular	zinc ion binding	p.E196E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGCCCAGGAGGAGCAACGGC	0.612000													5	64					0	0	0.307466	0	0
FAM149A	25854	broad.mit.edu	37	4	187077232	187077232	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:187077232G>T	ENST00000356371.5	+	7	1335	c.1335G>T	c.(1333-1335)ccG>ccT	p.P445P	FAM149A_ENST00000389354.5_Silent_p.P154P|FAM149A_ENST00000503432.1_Silent_p.P154P|FAM149A_ENST00000227065.4_Silent_p.P154P|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000514153.1_Silent_p.P154P|FAM149A_ENST00000502970.1_Silent_p.P154P			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	445								p.P154P(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTGTTTCCCCGCGTGACTGTG	0.458000													26	82					7.92952e-12	1.0422e-11	0.667858	1	0
ZMAT1	84460	broad.mit.edu	37	X	101152935	101152935	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:101152935C>A	ENST00000372782.3	-	5	458	c.411G>T	c.(409-411)caG>caT	p.Q137H	ZMAT1_ENST00000540921.1_Missense_Mutation_p.Q137H|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding	p.Q137H(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CATAGTGAGACTGAGCAATAA	0.413000													93	48					6.83469e-46	1.36514e-45	0.870114	1	0
MARCO	8685	broad.mit.edu	37	2	119749443	119749443	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:119749443G>T	ENST00000541757.1	+	15	1345	c.965G>T	c.(964-966)gGa>gTa	p.G322V	MARCO_ENST00000327097.4_Missense_Mutation_p.G400V			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	400	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G400V(2)		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						GGAGACCAGGGAGTGAAAGGT	0.547000													11	16					5.50884e-06	6.02331e-06	0.411799	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64606195	64606195	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:64606195A>G	ENST00000342711.5	-	8	1055	c.1056T>C	c.(1054-1056)taT>taC	p.Y352Y		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	352	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Y352Y(2)		central_nervous_system(1)|lung(3)	4						GCTCAGGAATATAGGGGGCCG	0.617000													24	100					0	0	0.654019	0	0
NELL1	4745	broad.mit.edu	37	11	20948973	20948973	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:20948973G>C	ENST00000298925.5	+	9	1116	c.963G>C	c.(961-963)agG>agC	p.R321S	NELL1_ENST00000325319.5_Missense_Mutation_p.R236S|NELL1_ENST00000357134.5_Missense_Mutation_p.R293S|NELL1_ENST00000532434.1_Missense_Mutation_p.R293S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	293	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.R293S(2)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACCATTGCAGGAACTGCACTT	0.383000													12	48					0	0	0.387290	0	0
SF3B1	23451	broad.mit.edu	37	2	198265001	198265001	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:198265001G>A	ENST00000335508.5	-	19	2967	c.2876C>T	c.(2875-2877)gCt>gTt	p.A959V		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	959					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.A959V(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATGACAACAGCAGTTCGAGA	0.348000			Mis		myelodysplastic syndrome								42	100					0	0	0.834066	0	0
TCTE1	202500	broad.mit.edu	37	6	44254167	44254167	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:44254167C>A	ENST00000371505.4	-	3	502	c.380G>T	c.(379-381)aGt>aTt	p.S127I	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	127								p.S127I(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTAGTTCTCACTGTCTATCAG	0.607000													17	181					3.62473e-10	4.44907e-10	0.608945	1	0
LY75	4065	broad.mit.edu	37	2	160741774	160741774	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:160741774G>A	ENST00000263636.4	-	6	971	c.944C>T	c.(943-945)tCc>tTc	p.S315F	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S315F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S315F|LY75_ENST00000554112.1_Missense_Mutation_p.S315F|LY75_ENST00000553424.1_Missense_Mutation_p.S315F	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.S315F(2)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGCACAGCTGGAGCCACCTAT	0.448000													34	116					0	0	0.812448	0	0
NOD2	64127	broad.mit.edu	37	16	50744734	50744734	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:50744734C>A	ENST00000300589.2	+	4	1017	c.912C>A	c.(910-912)ggC>ggA	p.G304G	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	304	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.G304G(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGGGCAGTGGCAAGAGCACGC	0.627000													11	51					1.61879e-10	2.0362e-10	0.411799	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69100244	69100244	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:69100244G>T	ENST00000332644.5	-	5	567	c.406C>A	c.(406-408)Cat>Aat	p.H136N		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	136	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.H136N(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AACATCTGATGTAATTTAGCC	0.378000													36	120					4.11147e-13	5.74098e-13	0.788014	1	0
CNTN5	53942	broad.mit.edu	37	11	99941253	99941253	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:99941253G>T	ENST00000524871.1	+	11	1550	c.1260G>T	c.(1258-1260)acG>acT	p.T420T	CNTN5_ENST00000527185.1_Silent_p.T420T|CNTN5_ENST00000528682.1_Silent_p.T420T|CNTN5_ENST00000279463.3_Silent_p.T420T|CNTN5_ENST00000418526.2_Silent_p.T346T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	420	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.T420T(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCAGACCCACGTATCGTTGGC	0.478000													11	42					3.07112e-06	3.38713e-06	0.387290	1	0
CDH2	1000	broad.mit.edu	37	18	25727729	25727729	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:25727729C>A	ENST00000269141.3	-	2	503	c.80G>T	c.(79-81)gGt>gTt	p.G27V		NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	27					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G27V(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGCGATTTCACCAGAAGCCTC	0.413000													9	36					3.86212e-05	4.12791e-05	0.361761	1	0
FBXO47	494188	broad.mit.edu	37	17	37119170	37119170	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:37119170G>A	ENST00000378079.2	-	2	308	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	37								p.P37S(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GTTGATATGGGTTGAAAGCCT	0.353000													26	92					0	0	0.681144	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432892	111432892	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:111432892T>G	ENST00000393934.3	+	3	1353	c.783T>G	c.(781-783)caT>caG	p.H261Q	PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000477665.1_Missense_Mutation_p.H261Q	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	261					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.H261Q(2)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GCTCCTTCCATGTCTCCCAAG	0.562000													25	110					0	0	0.693898	0	0
KDM2B	84678	broad.mit.edu	37	12	121882033	121882033	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:121882033C>A	ENST00000377069.4	-	16	2546	c.2140G>T	c.(2140-2142)Ggc>Tgc	p.G714C	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.G745C|KDM2B_ENST00000542973.1_Missense_Mutation_p.G113C	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	745					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.G384C(2)|p.G745C(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCAGGGAGCCGGGCAGGTTG	0.572000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	68	77					3.30712e-30	6.18358e-30	0.870114	1	0
ANO5	203859	broad.mit.edu	37	11	22248963	22248963	+	Missense_Mutation	SNP	G	G	A	rs150652958		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:22248963G>A	ENST00000324559.8	+	7	796	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	160						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.R160H(2)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATATTCCCCGCCCTAAGCAC	0.433000													50	104					0	0	0.870114	0	0
HMCN1	83872	broad.mit.edu	37	1	186114898	186114898	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:186114898G>T	ENST00000271588.4	+	93	14680	c.14451G>T	c.(14449-14451)tgG>tgT	p.W4817C	HMCN1_ENST00000367492.2_Missense_Mutation_p.W4817C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4817	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.W4817C(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGAAGTTGGGGAAGCTGGC	0.502000													33	119					2.35958e-20	3.8616e-20	0.847076	1	0
WDR17	116966	broad.mit.edu	37	4	177069477	177069477	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:177069477G>T	ENST00000393643.2	+	13	2140	c.1888G>T	c.(1888-1890)Gat>Tat	p.D630Y	WDR17_ENST00000508596.1_Missense_Mutation_p.D630Y|WDR17_ENST00000507824.2_Missense_Mutation_p.D637Y|WDR17_ENST00000280190.4_Missense_Mutation_p.D654Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	654								p.D654Y(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCACGGTGCAGATGTATATGG	0.363000													18	96					6.49762e-13	8.95777e-13	0.539581	1	0
GABRG2	2566	broad.mit.edu	37	5	161495054	161495054	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:161495054C>A	ENST00000356592.3	+	1	509	c.49C>A	c.(49-51)Cct>Act	p.P17T	GABRG2_ENST00000414552.2_Missense_Mutation_p.P17T|GABRG2_ENST00000393933.4_De_novo_Start_InFrame|GABRG2_ENST00000361925.4_Missense_Mutation_p.P17T	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	17					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.P17T(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTACTCGACTCCTGTATTTTC	0.463000													23	35					1.55469e-16	2.33819e-16	0.654019	1	0
GBP1	2633	broad.mit.edu	37	1	89523826	89523826	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:89523826G>A	ENST00000370473.4	-	6	942	c.723C>T	c.(721-723)ccC>ccT	p.P241P		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	241					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.P241P(2)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGCGGTGAACGGGCCGATCAA	0.438000													125	313					0	0	0.870114	0	0
NID1	4811	broad.mit.edu	37	1	236192920	236192920	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:236192920C>A	ENST00000264187.6	-	7	1750	c.1668G>T	c.(1666-1668)gtG>gtT	p.V556V	NID1_ENST00000366595.3_Silent_p.V556V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	556	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding	p.V556V(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAATCTGCGGCACGCGGCCCT	0.642000													7	19					3.86212e-05	4.12791e-05	0.361761	1	0
COL5A2	1290	broad.mit.edu	37	2	189929366	189929366	+	Silent	SNP	G	G	T	rs145258293		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:189929366G>T	ENST00000374866.3	-	25	1907	c.1633C>A	c.(1633-1635)Cgg>Agg	p.R545R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	545					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.R545R(2)		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)			ACAGGACCCCGTTCTCCTTGA	0.478000													17	103					3.52763e-06	3.88499e-06	0.520397	1	0
CSMD3	114788	broad.mit.edu	37	8	113504881	113504881	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:113504881G>T	ENST00000297405.5	-	31	5359	c.5115C>A	c.(5113-5115)ggC>ggA	p.G1705G	CSMD3_ENST00000455883.2_Silent_p.G1601G|CSMD3_ENST00000352409.3_Silent_p.G1705G|CSMD3_ENST00000343508.3_Silent_p.G1665G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1705	Sushi 9.					integral to membrane|plasma membrane		p.G1705G(3)|p.G1665G(2)		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						TCATTATATTGCCTGGATCAA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			61	104					2.69953e-25	4.75543e-25	0.870114	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84								p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													8	440					0	0	0.411799	0	0
CSMD3	114788	broad.mit.edu	37	8	113529424	113529424	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:113529424C>A	ENST00000297405.5	-	28	4839	c.4595G>T	c.(4594-4596)gGg>gTg	p.G1532V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1428V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1532V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1492V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1532	Sushi 8.					integral to membrane|plasma membrane		p.G1532V(2)|p.G1492V(2)		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						CATGGGGACCCCTGGGTCACG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			53	75					2.84144e-21	4.73158e-21	0.870114	1	0
BAGE2	85319	broad.mit.edu	37	21	11058341	11058341	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:11058341G>T	ENST00000470054.1	-	0	324									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)		GGGTAAAGGAGAGAAATCTCT	0.363000													5	173					0.0215528	0.0218107	0.217242	1	0
MEGF10	84466	broad.mit.edu	37	5	126776495	126776495	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:126776495C>T	ENST00000274473.6	+	19	2565	c.2298C>T	c.(2296-2298)gaC>gaT	p.D766D	MEGF10_ENST00000503335.2_Silent_p.D766D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	766	EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.D766D(2)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACGGAGCTGACTGCGACCACA	0.507000													45	107					0	0	0.859065	0	0
OR2L8	391190	broad.mit.edu	37	1	248112202	248112202	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:248112202G>T	ENST00000357191.3	+	1	43	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G15W(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATCTTATTGGGGCTGTTTCC	0.368000													56	168					4.88506e-25	8.54604e-25	0.870114	1	0
MUC16	94025	broad.mit.edu	37	19	9047436	9047436	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:9047436C>A	ENST00000397910.4	-	5	34398	c.34195G>T	c.(34195-34197)Gat>Tat	p.D11399Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11401	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D7032Y(2)|p.D11399Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGGTACATCAGGTGAGACA	0.463000													47	87					6.4308e-24	1.1072e-23	0.870114	1	0
EPHA5	2044	broad.mit.edu	37	4	66535351	66535351	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:66535351C>T	ENST00000273854.3	-	1	710	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	EPHA5_ENST00000432638.2_Missense_Mutation_p.R37Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.R37Q|EPHA5_ENST00000354839.4_Missense_Mutation_p.R37Q	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	37					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.R37Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GAGGGGAGCCCGTCGAGGTGC	0.751000										TSP Lung(17;0.13)			4	15					0	0	0.184627	0	0
ARAF	369	broad.mit.edu	37	X	47426307	47426307	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:47426307G>T	ENST00000377045.4	+	8	918	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	ARAF_ENST00000290277.6_Intron	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	242					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.D242Y(2)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TTTCAGCACTGATGGTGAGTC	0.587000													29	59					1.7881e-09	2.14968e-09	0.729181	1	0
SLC25A13	10165	broad.mit.edu	37	7	95818951	95818951	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:95818951C>A	ENST00000416240.2	-	8	980	c.790G>T	c.(790-792)Gtt>Ttt	p.V264F	SLC25A13_ENST00000542654.1_Missense_Mutation_p.V156F|SLC25A13_ENST00000265631.5_Missense_Mutation_p.V264F	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	264					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	p.V264F(2)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATGGGTGTAACCTGACCAAAT	0.353000													40	180					6.04917e-29	1.10926e-28	0.827153	1	0
COL12A1	1303	broad.mit.edu	37	6	75828759	75828759	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:75828759C>A	ENST00000322507.8	-	46	7663	c.7354_splice	c.e46+1	p.G2452_splice	COL12A1_ENST00000416123.2_Splice_Site_p.G2452_splice|COL12A1_ENST00000483888.2_Splice_Site_p.G2452_splice|COL12A1_ENST00000345356.6_Splice_Site_p.G1288_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2452	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.G2452W(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGTGCTTGCCTGACTGCTGG	0.423000													16	92					9.16793e-09	1.07501e-08	0.520397	1	0
SLC22A6	9356	broad.mit.edu	37	11	62751943	62751943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:62751943G>A	ENST00000377871.3	-	1	486	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	SLC22A6_ENST00000421062.2_Nonsense_Mutation_p.Q74*|SLC22A6_ENST00000360421.4_Nonsense_Mutation_p.Q74*|SLC22A6_ENST00000458333.2_Nonsense_Mutation_p.Q74*	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	74					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.Q74*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GACTCAGGCTGCCCCTGCCTG	0.677000													16	41					0	0	0.557998	0	0
OR5M1	390168	broad.mit.edu	37	11	56380871	56380871	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:56380871T>A	ENST00000526538.1	-	1	107	c.108A>T	c.(106-108)ctA>ctT	p.L36L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L36L(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CCAGTGTGATTAGGTAGATCG	0.498000													48	149					0	0	0.870114	0	0
TTC17	55761	broad.mit.edu	37	11	43411214	43411214	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:43411214G>T	ENST00000039989.4	+	3	276	c.262G>T	c.(262-264)Gct>Tct	p.A88S	TTC17_ENST00000299240.6_Missense_Mutation_p.A88S	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	88							binding	p.A88S(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ACAATTAGTTGCTCAAAAAAT	0.383000													28	75					2.25844e-05	2.43783e-05	0.717897	1	0
OARD1	221443	broad.mit.edu	37	6	41036604	41036604	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:41036604C>A	ENST00000479950.1	-	5	645	c.332G>T	c.(331-333)gGa>gTa	p.G111V	OARD1_ENST00000464633.1_Intron|OARD1_ENST00000468811.1_Missense_Mutation_p.G111V|OARD1_ENST00000424266.2_Missense_Mutation_p.G111V|OARD1_ENST00000463088.1_Missense_Mutation_p.G111V|OARD1_ENST00000480585.1_Intron|OARD1_ENST00000486443.1_Missense_Mutation_p.G72V|OARD1_ENST00000244558.9_Intron|OARD1_ENST00000373154.2_Intron|OARD1_ENST00000482515.1_Intron					O-acyl-ADP-ribose deacylase 1									p.G111V(2)|p.G111E(1)									GTCAGTGACTCCATTCTTCAG	0.408000													18	32					5.03518e-11	6.39695e-11	0.557998	1	0
CSMD3	114788	broad.mit.edu	37	8	113988231	113988231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:113988231C>A	ENST00000297405.5	-	7	1421	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E393*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E353*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	393						integral to membrane|plasma membrane		p.E393*(2)|p.E353*(2)		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						ACTCGCTGTTCCTCGGAAAGT	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	229					9.22156e-22	1.54914e-21	0.870114	1	0
NLGN1	22871	broad.mit.edu	37	3	173525608	173525608	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:173525608G>T	ENST00000457714.1	+	4	1061	c.632G>T	c.(631-633)cGa>cTa	p.R211L	NLGN1_ENST00000361589.4_Missense_Mutation_p.R211L|NLGN1_ENST00000401917.3_Missense_Mutation_p.R251L|NLGN1_ENST00000545397.1_Missense_Mutation_p.R211L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	228					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.R211L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTCAACTATCGACTTGGAGTA	0.383000													39	89					2.59497e-14	3.70501e-14	0.834066	1	0
GLYATL2	219970	broad.mit.edu	37	11	58604550	58604550	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:58604550T>C	ENST00000287275.1	-	5	804	c.414A>G	c.(412-414)ccA>ccG	p.P138P	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.P138P	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	138						mitochondrion	glycine N-acyltransferase activity	p.P138P(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGTGTTTCTTTGGTAATTCCG	0.378000													45	158					0	0	0.847076	0	0
CHRD	8646	broad.mit.edu	37	3	184104632	184104632	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:184104632G>T	ENST00000204604.1	+	17	2442		c.e17-1		EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Splice_Site|CHRD_ENST00000348986.3_Splice_Site|CHRD_ENST00000450923.1_Splice_Site	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.?(4)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCTCTGCAGAGACGAACGG	0.652000													15	71					2.23348e-06	2.47047e-06	0.500413	1	0
AMER2	219287	broad.mit.edu	37	13	25744474	25744474	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:25744474C>A	ENST00000357816.2	-	3	1402	c.927G>T	c.(925-927)ccG>ccT	p.P309P	AMER2_ENST00000515384.1_Silent_p.P428P|AMER2_ENST00000381853.3_Silent_p.P309P					APC membrane recruitment protein 2									p.P428P(2)|p.P309P(2)									CCACCTCGTCCGGGCTGGCCA	0.652000													12	46					2.27111e-07	2.54914e-07	0.411799	1	0
INTS5	80789	broad.mit.edu	37	11	62415695	62415695	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:62415695C>A	ENST00000330574.2	-	2	1909	c.1857G>T	c.(1855-1857)gaG>gaT	p.E619D		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	619					snRNA processing	integral to membrane|integrator complex	protein binding	p.E619D(2)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CAGCTACTTCCTCCTCAGGAT	0.617000													17	63					3.41278e-10	4.20928e-10	0.520397	1	0
EPAS1	2034	broad.mit.edu	37	2	46611777	46611777	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:46611777G>T	ENST00000263734.3	+	16	3101	c.2591G>T	c.(2590-2592)aGa>aTa	p.R864I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	864	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R864I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACCTCCTCAGAGCCCTGGAC	0.607000													10	93					7.48243e-07	8.30048e-07	0.335167	1	0
SLC47A1	55244	broad.mit.edu	37	17	19445753	19445753	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:19445753G>T	ENST00000270570.4	+	2	269	c.183G>T	c.(181-183)gtG>gtT	p.V61V	SLC47A1_ENST00000395585.1_Silent_p.V61V|SLC47A1_ENST00000542886.1_Silent_p.V61V|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000575023.1_Silent_p.V61V|SLC47A1_ENST00000436810.2_Silent_p.V61V|SLC47A1_ENST00000457293.1_Silent_p.V61V|SLC47A1_ENST00000571335.1_5'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	61						integral to membrane|plasma membrane	drug:hydrogen antiporter activity	p.V61V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TAAGCTCCGTGTTCTGTGGCC	0.557000													30	79					9.65021e-13	1.32799e-12	0.750413	1	0
NPY4R	5540	broad.mit.edu	37	10	47087824	47087824	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:47087824G>A	ENST00000374312.1	+	3	1460	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	NPY4R_ENST00000395716.1_Silent_p.E347E	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.E347E(2)									CCCCCCTGGAGGAGTCGGAGC	0.557000													21	147					0	0	0.592651	0	0
CHRNG	1146	broad.mit.edu	37	2	233406159	233406159	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:233406159G>A	ENST00000389494.3	+	5	447	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	142					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	p.P142P(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		ACTGGCTGCCGCCTGCCATCT	0.577000													20	110					0	0	0.654019	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100672318	100672318	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:100672318G>T	ENST00000268070.4	-	12	1720	c.1615C>A	c.(1615-1617)Ccg>Acg	p.P539T		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	539	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P539T(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACATGCTCCGGGATGGGCGTC	0.672000											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	30					0.00621372	0.00636425	0.335167	1	0
PCOLCE2	26577	broad.mit.edu	37	3	142537297	142537297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:142537297G>T	ENST00000295992.3	-	9	1434	c.1128C>A	c.(1126-1128)taC>taA	p.Y376*	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.H297N	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	376	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.Y376*(2)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCATAATAATGTAATTTAGAC	0.363000													40	102					3.61848e-18	5.68938e-18	0.834066	1	0
SLC6A3	6531	broad.mit.edu	37	5	1422011	1422011	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:1422011C>A	ENST00000270349.9	-	5	899	c.772G>T	c.(772-774)Ggc>Tgc	p.G258C	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G258C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	258					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.G258C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GTCTTCACGCCCTTCCAGAGG	0.642000													55	95					1.19403e-26	2.13802e-26	0.870114	1	0
CELF4	56853	broad.mit.edu	37	18	34854816	34854816	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:34854816G>C	ENST00000420428.2	-	5	1004	c.609C>G	c.(607-609)gcC>gcG	p.A203A	CELF4_ENST00000412753.1_Silent_p.A203A|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000588597.1_Silent_p.A192A|CELF4_ENST00000591282.1_Silent_p.A203A|CELF4_ENST00000601019.1_Silent_p.A202A|CELF4_ENST00000603232.1_Silent_p.A203A|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000591287.1_Silent_p.A202A|CELF4_ENST00000334919.5_Silent_p.A193A|CELF4_ENST00000361795.5_Silent_p.A202A	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	203	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.A203A(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCTGCGCCTCGGCGTGGGAGG	0.736000													3	13					0	0	0.115264	0	0
LRP5	4041	broad.mit.edu	37	11	68178930	68178930	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:68178930G>A	ENST00000294304.7	+	11	2451	c.2345G>A	c.(2344-2346)gGc>gAc	p.G782D		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	782	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTGGGGCGGCAAGCCGAGG	0.642000													4	77					0	0	0.184627	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3428348	3428348	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:3428348C>T	ENST00000324266.5	+	5	1526	c.1331C>T	c.(1330-1332)gCt>gTt	p.A444V	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A444V	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	444							binding	p.A444V(2)									TTCCAGAATGCTGAGATGGAA	0.448000													87	178					0	0	0.870114	0	0
ZIM3	114026	broad.mit.edu	37	19	57646630	57646630	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:57646630C>T	ENST00000269834.1	-	5	1460	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G359R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTCTCTTCCCAGTGTGAATT	0.393000													65	129					0	0	0.870114	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596702	142596702	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:142596702T>C	ENST00000370503.2	-	2	451	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	123								p.Q123R(2)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTCATCCTCCTGTGAGGATCC	0.453000													61	91					0	0	0.870114	0	0
HERC1	8925	broad.mit.edu	37	15	63987027	63987027	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:63987027G>C	ENST00000443617.2	-	28	5275	c.5188C>G	c.(5188-5190)Caa>Gaa	p.Q1730E	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1730					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.Q1730E(4)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACAACTGTTGATAAATTTTA	0.378000													20	51					0	0	0.592651	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14248435	14248435	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:14248435G>T	ENST00000360954.2	+	2	1081	c.645G>T	c.(643-645)tcG>tcT	p.S215S		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	215					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	p.S215S(2)		large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGCGCATCTCGGCCATGTCCA	0.642000													23	36					4.26978e-12	5.69054e-12	0.654019	1	0
KLK15	55554	broad.mit.edu	37	19	51330233	51330233	+	Missense_Mutation	SNP	G	G	T	rs7247190		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:51330233G>T	ENST00000326856.4	-	4	508	c.379C>A	c.(379-381)Ccc>Acc	p.P127T	KLK15_ENST00000598239.1_Missense_Mutation_p.P128T|KLK15_ENST00000596931.1_Missense_Mutation_p.P127T|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.P128T	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	128	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P128T(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAACGCGTGGGTAGCACCGCG	0.711000													28	52					1.5548e-18	2.45988e-18	0.693898	1	0
EPHA3	2042	broad.mit.edu	37	3	89480412	89480412	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:89480412G>T	ENST00000336596.2	+	13	2474	c.2249G>T	c.(2248-2250)cGg>cTg	p.R750L	EPHA3_ENST00000494014.1_Missense_Mutation_p.R750L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	750	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding	p.R750L(2)|p.R750Q(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTCGCTGCTCGGAACATCTTG	0.488000										TSP Lung(6;0.00050)			19	36					2.94398e-08	3.3945e-08	0.557998	1	0
TINAG	27283	broad.mit.edu	37	6	54214562	54214562	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:54214562C>A	ENST00000259782.4	+	7	1044	c.948C>A	c.(946-948)acC>acA	p.T316T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	316					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.T316T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AAAATGCTACCAACAATGGAT	0.443000													47	141					1.89013e-27	3.4329e-27	0.870114	1	0
TCEB3C	162699	broad.mit.edu	37	18	44555227	44555227	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:44555227G>A	ENST00000330682.2	-	1	1222	c.987C>T	c.(985-987)gcC>gcT	p.A329A	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	329	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.A329A(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGAGCTGGCAGGCAGGCCTGG	0.667000													29	1004					0	0	0.592651	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29727032	29727032	+	RNA	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:29727032A>T	ENST00000602980.1	+	0	850					NR_036482.1																						TTCTTCCAAAAATGCTGTCAT	0.274000													11	59					0	0	0.435327	0	0
CCER1	196477	broad.mit.edu	37	12	91347339	91347339	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:91347339G>A	ENST00000358859.2	-	1	1614	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1									p.P394L(2)									GGATTCCTGTGGCACTTTGGG	0.408000													58	68					0	0	0.870114	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	93					0	0	0.150653	0	0
KLHL6	89857	broad.mit.edu	37	3	183225911	183225911	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:183225911C>A	ENST00000341319.3	-	3	880	c.845G>T	c.(844-846)aGg>aTg	p.R282M		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	282								p.R282M(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGGGCACTGCCTGATGAGAGG	0.537000													37	139					1.08052e-11	1.41042e-11	0.796494	1	0
NOD2	64127	broad.mit.edu	37	16	50745614	50745614	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:50745614C>A	ENST00000300589.2	+	4	1897	c.1792C>A	c.(1792-1794)Ccc>Acc	p.P598T		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	598	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.P598T(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAGTACGGCGCCCCTGGAATT	0.567000													11	66					1.08611e-07	1.23547e-07	0.387290	1	0
GRM8	2918	broad.mit.edu	37	7	126173167	126173167	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:126173167T>C	ENST00000339582.2	-	9	3077	c.2269A>G	c.(2269-2271)Atc>Gtc	p.I757V	GRM8_ENST00000358373.3_Missense_Mutation_p.I757V|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.I757V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	757					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.I757V(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)	ATCAAGAGGATACTGTATCCA	0.443000										HNSCC(24;0.065)			15	59					0	0	0.457914	0	0
SGK2	10110	broad.mit.edu	37	20	42199282	42199282	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:42199282G>A	ENST00000373100.1	+	8	846	c.386G>A	c.(385-387)cGc>cAc	p.R129H	SGK2_ENST00000373077.1_Missense_Mutation_p.R128H|SGK2_ENST00000373092.3_Missense_Mutation_p.R129H|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000341458.4_Missense_Mutation_p.R189H|SGK2_ENST00000426287.1_Missense_Mutation_p.R155H|SGK2_ENST00000423407.3_Missense_Mutation_p.R129H			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	189	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	p.R189H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCGGGAGCGCCGGTTCCTG	0.637000													19	111					0	0	0.575678	0	0
IL16	3603	broad.mit.edu	37	15	81585042	81585042	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:81585042G>T	ENST00000394660.2	+	12	1926	c.1566G>T	c.(1564-1566)ggG>ggT	p.G522G	IL16_ENST00000302987.4_Silent_p.G522G	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	522					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.G522G(4)		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						GGTCCCCAGGGGGAAGTCCTG	0.607000													22	50					2.32416e-17	3.59489e-17	0.624587	1	0
ANKRD32	84250	broad.mit.edu	37	5	94014519	94014519	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:94014519A>T	ENST00000265140.5	+	15	2253	c.1834A>T	c.(1834-1836)Aaa>Taa	p.K612*		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	612								p.K612*(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TTAGGTCTTCAAACATGAACT	0.299000													9	23					0	0	0.479597	0	0
NRCAM	4897	broad.mit.edu	37	7	107834586	107834586	+	Missense_Mutation	SNP	A	A	T	rs146218985	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:107834586A>T	ENST00000379028.3	-	17	2130	c.1660T>A	c.(1660-1662)Tat>Aat	p.Y554N	NRCAM_ENST00000379024.4_Missense_Mutation_p.Y535N|NRCAM_ENST00000351718.4_Missense_Mutation_p.Y548N|NRCAM_ENST00000413765.2_Missense_Mutation_p.Y535N|NRCAM_ENST00000379022.4_Missense_Mutation_p.Y554N|NRCAM_ENST00000425651.2_Missense_Mutation_p.Y554N			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	554	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.Y548N(2)|p.Y554N(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAACTGCATATTCGGGCTGT	0.413000													29	134					0	0	0.827153	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864655	131864655	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:131864655G>T	ENST00000359827.3	-	20	4627	c.3665C>A	c.(3664-3666)tCc>tAc	p.S1222Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1222Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1222	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane		p.S1222Y(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCCCCGGGGAGTACTCCAT	0.647000													8	21					3.09899e-07	3.47324e-07	0.307466	1	0
CD163L1	283316	broad.mit.edu	37	12	7559189	7559189	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:7559189T>C	ENST00000313599.3	-	5	1083	c.1026A>G	c.(1024-1026)agA>agG	p.R342R	CD163L1_ENST00000396630.1_Silent_p.R342R|CD163L1_ENST00000416109.2_Silent_p.R352R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	342	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R342R(2)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCCGGAATGTCTGCAGTCCC	0.433000													23	93					0	0	0.608945	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531202	43531202	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:43531202A>T	ENST00000430334.3	-	7	2149	c.2016T>A	c.(2014-2016)ttT>ttA	p.F672L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.F583L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	672					intracellular signal transduction	cytoplasm	metal ion binding	p.F672L(2)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ACGACCAGTCAAACTGTGTGC	0.612000													40	131					0	0	0.840704	0	0
SPAG1	6674	broad.mit.edu	37	8	101253240	101253240	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:101253240A>G	ENST00000388798.2	+	19	2962	c.2771A>G	c.(2770-2772)tAt>tGt	p.Y924C	SPAG1_ENST00000251809.3_Missense_Mutation_p.Y924C	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	924					single fertilization	cytoplasm	GTP binding|hydrolase activity	p.Y924C(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAAAGGCAGTATGAGCTTTAA	0.368000													37	54					0	0	0.804634	0	0
FRYL	285527	broad.mit.edu	37	4	48584628	48584628	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:48584628A>T	ENST00000537810.1	-	20	2476	c.1872T>A	c.(1870-1872)cgT>cgA	p.R624R	FRYL_ENST00000506685.1_Silent_p.R330R|FRYL_ENST00000507711.1_Silent_p.R624R|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.R624R|FRYL_ENST00000358350.4_Silent_p.R624R			O94915	FRYL_HUMAN	FRY-like	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R624R(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGTCACTTCACGAACAATAA	0.393000													16	54					0	0	0.500413	0	0
RNF26	79102	broad.mit.edu	37	11	119207086	119207086	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:119207086C>T	ENST00000311413.4	+	1	1850	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	418							zinc ion binding	p.C418C(2)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		ACCGCAATTGCCCGCTCTGCC	0.642000													33	130					0	0	0.788014	0	0
COL12A1	1303	broad.mit.edu	37	6	75893229	75893229	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:75893229C>A	ENST00000322507.8	-	10	1737	c.1428G>T	c.(1426-1428)agG>agT	p.R476S	COL12A1_ENST00000416123.2_Missense_Mutation_p.R476S|COL12A1_ENST00000483888.2_Missense_Mutation_p.R476S|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	476	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.R476S(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAATCTGGACCCTATTTGGTG	0.353000													35	101					4.31634e-10	5.28942e-10	0.760397	1	0
ROBO4	54538	broad.mit.edu	37	11	124754957	124754957	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:124754957C>T	ENST00000306534.3	-	17	3466	c.2981G>A	c.(2980-2982)tGt>tAt	p.C994Y	ROBO4_ENST00000533054.1_Missense_Mutation_p.C849Y|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	994					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.C994Y(2)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGCATACGACAGTGGAGCTG	0.587000													34	126					0	0	0.796494	0	0
MYOM3	127294	broad.mit.edu	37	1	24385442	24385442	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:24385442G>A	ENST00000330966.7	-	36	4193	c.4031C>T	c.(4030-4032)cCg>cTg	p.P1344L	MYOM3_ENST00000374434.3_Missense_Mutation_p.P1341L|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.P234L			Q5VTT5	MYOM3_HUMAN	myomesin 3	1341	Ig-like C2-type 4.			A -> T (in Ref. 5; CAH10376).				p.P1341L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCACATCCGGCAGACCTCT	0.537000													4	14					0	0	0.184627	0	0
GPR135	64582	broad.mit.edu	37	14	59930621	59930621	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:59930621T>A	ENST00000395116.1	-	1	1439	c.1324A>T	c.(1324-1326)Aac>Tac	p.N442Y		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	442						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N442Y(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GACATCCTGTTGCAGGCCCCC	0.632000													10	24					0	0	0.457914	0	0
CHD9	80205	broad.mit.edu	37	16	53342725	53342725	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:53342725A>G	ENST00000566029.1	+	34	7342	c.7133A>G	c.(7132-7134)gAg>gGg	p.E2378G	CHD9_ENST00000564845.1_Missense_Mutation_p.E2378G|CHD9_ENST00000398510.3_Missense_Mutation_p.E2394G|CHD9_ENST00000447540.1_Missense_Mutation_p.E2379G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2394	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.E2395G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGTGCATCAGAGACCAGCCTC	0.438000													9	27					0	0	0.335167	0	0
TRGC1	6966	broad.mit.edu	37	7	38305252	38305252	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:38305252G>T	ENST00000443402.2	-	0	27					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					AGTGGGCTTGGGGGAAACATC	0.378000													35	246					6.29468e-14	8.90382e-14	0.804634	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204237428	204237428	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:204237428C>T	ENST00000272203.3	-	4	431	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A39T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	39								p.A39T(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCTTTGCGGGCTGTGCGAGTT	0.602000													11	54					0	0	0.387290	0	0
CACNA1B	774	broad.mit.edu	37	9	140972591	140972591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:140972591G>T	ENST00000277549.5	+	36	5126	c.2557G>T	c.(2557-2559)Gag>Tag	p.E853*	CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.E1659*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.E1657*|CACNA1B_ENST00000371365.2_Nonsense_Mutation_p.E23*|CACNA1B_ENST00000371372.1_Nonsense_Mutation_p.E1659*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.E1658*|CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.E1660*			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1659					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.E1659*(2)|p.E23*(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCCTGGCACGAGATCATGCT	0.607000													9	69					5.4927e-09	6.51082e-09	0.307466	1	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53943863	53943863	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:53943863G>C	ENST00000263634.3	-	6	756	c.622C>G	c.(622-624)Caa>Gaa	p.Q208E	GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.Q246E|ASB3_ENST00000406625.2_Missense_Mutation_p.Q243E|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.Q135E|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.Q135E	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		243					intracellular signal transduction			p.Q208E(1)									TCCAAGGCTTGACAATTGACA	0.378000													8	234					0	0	0.307466	0	0
SPTA1	6708	broad.mit.edu	37	1	158583631	158583631	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:158583631C>A	ENST00000368148.3	-	50	7049	c.6869G>T	c.(6868-6870)cGc>cTc	p.R2290L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2287L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2290	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R2290L(2)		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)					GTGAGTCAGGCGCCCTGTCAA	0.408000													6	117					0.0381472	0.0384504	0.278610	1	0
BTRC	8945	broad.mit.edu	37	10	103291028	103291028	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:103291028G>T	ENST00000370187.3	+	7	896	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	BTRC_ENST00000393441.4_Missense_Mutation_p.G219W|BTRC_ENST00000408038.2_Missense_Mutation_p.G224W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	260					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		p.G260W(3)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ACCTCCTGACGGGAATGCTCC	0.313000													32	121					2.32173e-10	2.89172e-10	0.804634	1	0
AGO1	26523	broad.mit.edu	37	1	36381063	36381063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:36381063C>T	ENST00000373204.4	+	15	2161	c.1948C>T	c.(1948-1950)Caa>Taa	p.Q650*	AGO1_ENST00000373206.1_Nonsense_Mutation_p.Q575*	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1									p.Q650*(2)									GCTCCTCATCCAATTCTACAA	0.572000													39	85					0	0	0.804634	0	0
ALDH2	217	broad.mit.edu	37	12	112235926	112235926	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:112235926G>T	ENST00000261733.2	+	10	1189	c.1128G>T	c.(1126-1128)acG>acT	p.T376T	ALDH2_ENST00000416293.3_Silent_p.T329T	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	376					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.T376T(4)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACATCAACACGGGGAAGCAAG	0.542000			T	HMGA2	leiomyoma								24	51					5.45024e-15	7.94566e-15	0.654019	1	0
ALCAM	214	broad.mit.edu	37	3	105271017	105271017	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:105271017G>C	ENST00000306107.5	+	13	2037	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	ALCAM_ENST00000486979.2_Missense_Mutation_p.E462Q|ALCAM_ENST00000472644.2_Intron|ALCAM_ENST00000389927.4_Missense_Mutation_p.E235Q	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	513					cell adhesion|signal transduction	integral to membrane	receptor binding	p.E513Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGAGGCAGACGAGATAAGTGG	0.338000													11	50					0	0	0.411799	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734443	12734443	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:12734443A>G	ENST00000380682.1	+	15	2371	c.1865A>G	c.(1864-1866)tAc>tGc	p.Y622C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	622					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.Y612C(2)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGGCAGACTACAGAAGTCTA	0.512000													29	71					0	0	0.717897	0	0
SEL1L2	80343	broad.mit.edu	37	20	13912364	13912364	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:13912364T>A	ENST00000284951.5	-	3	242	c.168A>T	c.(166-168)acA>acT	p.T56T	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.T56T			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	56						integral to membrane	binding	p.T56T(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CATTACTAGATGTTCTTTGTT	0.279000													20	56					0	0	0.575678	0	0
SPTA1	6708	broad.mit.edu	37	1	158644393	158644393	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:158644393A>T	ENST00000368148.3	-	9	1365	c.1185T>A	c.(1183-1185)gcT>gcA	p.A395A	SPTA1_ENST00000368147.3_Silent_p.A395A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	395				A -> G (in Ref. 3; AAA60575).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A395A(2)		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)					GCAGCTCATCAGCATTGATCG	0.507000													105	232					0	0	0.870114	0	0
TAT	6898	broad.mit.edu	37	16	71604708	71604708	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:71604708T>A	ENST00000355962.4	-	8	919	c.786A>T	c.(784-786)ccA>ccT	p.P262P	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	262					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.P262P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GGGTGGCCAGTGGTTCATATT	0.552000													11	62					0	0	0.435327	0	0
SLC4A8	9498	broad.mit.edu	37	12	51879644	51879644	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:51879644G>C	ENST00000453097.2	+	17	2463	c.2246G>C	c.(2245-2247)gGa>gCa	p.G749A	SLC4A8_ENST00000358657.3_Missense_Mutation_p.G776A	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	749					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.G749A(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTTTTGATTGGAGTCCCATCA	0.418000													47	79					0	0	0.870114	0	0
SPTB	6710	broad.mit.edu	37	14	65253520	65253520	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:65253520C>A	ENST00000389722.3	-	15	3216	c.3163G>T	c.(3163-3165)Gac>Tac	p.D1055Y	SPTB_ENST00000542895.1_Missense_Mutation_p.D1055Y|SPTB_ENST00000389721.5_Missense_Mutation_p.D1055Y|SPTB_ENST00000556626.1_Missense_Mutation_p.D1055Y|SPTB_ENST00000389720.3_Missense_Mutation_p.D1055Y	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1055					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.D1055Y(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCAGCAAGTCCTCCTGGCCC	0.607000													23	124					1.96895e-08	2.28062e-08	0.639603	1	0
OR10S1	219873	broad.mit.edu	37	11	123848164	123848164	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:123848164G>A	ENST00000531945.1	-	1	324	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L79F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGAAGGAGAGGTGCCCCAGG	0.557000													15	53					0	0	0.457914	0	0
CEP63	80254	broad.mit.edu	37	3	134278166	134278166	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:134278166T>C	ENST00000337090.3	+	14	2021	c.1848T>C	c.(1846-1848)tcT>tcC	p.S616S	CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Silent_p.S616S|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Silent_p.S616S|CEP63_ENST00000383229.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	616					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.S616S(2)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTCCTACTCTCTATGTAAAA	0.438000													74	220					0	0	0.870114	0	0
FBN2	2201	broad.mit.edu	37	5	127730885	127730885	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:127730885C>A	ENST00000508053.1	-	15	2135	c.1161G>T	c.(1159-1161)caG>caT	p.Q387H	FBN2_ENST00000262464.4_Missense_Mutation_p.Q387H|FBN2_ENST00000508989.1_Missense_Mutation_p.Q354H			P35556	FBN2_HUMAN	fibrillin 2	387	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.Q387H(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGCAGCACTGCATTTTCG	0.552000													18	36					1.00905e-13	1.41938e-13	0.575678	1	0
FAM13A	10144	broad.mit.edu	37	4	89772323	89772323	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:89772323G>A	ENST00000264344.5	-	7	1062	c.855C>T	c.(853-855)tcC>tcT	p.S285S	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	285					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S285S(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCTCACTCCTGGATTTTGGGA	0.408000													46	169					0	0	0.864702	0	0
ACTA1	58	broad.mit.edu	37	1	229568343	229568343	+	Silent	SNP	G	G	T	rs121909526		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:229568343G>T	ENST00000366684.3	-	3	516	c.414C>A	c.(412-414)atC>atA	p.I138I	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	138			I -> M (in NEM3; autosomal recessive).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	p.I138I(3)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GCACGGCCTGGATGGCCACGT	0.706000													54	81					7.50695e-29	1.37327e-28	0.870114	1	0
MANSC1	54682	broad.mit.edu	37	12	12491436	12491436	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:12491436G>A	ENST00000535902.1	-	3	845	c.282C>T	c.(280-282)aaC>aaT	p.N94N	MANSC1_ENST00000545735.1_Silent_p.N13N|MANSC1_ENST00000396349.3_Silent_p.N60N			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	94	MANSC.					integral to membrane		p.N94N(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATAGGTAGCAGTTGGGTTGTC	0.393000													34	88					0	0	0.769981	0	0
FLYWCH2	114984	broad.mit.edu	37	16	2946481	2946481	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:2946481G>T	ENST00000396958.3	+	3	411	c.31G>T	c.(31-33)Ggt>Tgt	p.G11C	FLYWCH2_ENST00000572006.1_Missense_Mutation_p.G11C|FLYWCH2_ENST00000293981.6_Missense_Mutation_p.G11C	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	11								p.G11F(2)		central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						CGAGCAGGAGGGTGAGAGTGT	0.657000													27	62					3.6726e-16	5.4801e-16	0.667858	1	0
S1PR1	1901	broad.mit.edu	37	1	101704717	101704717	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:101704717C>A	ENST00000305352.6	+	2	552	c.177C>A	c.(175-177)atC>atA	p.I59I	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	59					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.I59I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTGCTTTATCATCCTGGAGA	0.458000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	113					1.07637e-12	1.47588e-12	0.804634	1	0
DGKI	9162	broad.mit.edu	37	7	137151659	137151659	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:137151659C>T	ENST00000453654.1	-	26	2166	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	DGKI_ENST00000446122.1_Splice_Site|DGKI_ENST00000424189.2_Missense_Mutation_p.D846N|DGKI_ENST00000288490.5_Splice_Site			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	833					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	p.?(2)		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						TGAGATCTGTCTATTCGATAA	0.358000													10	62					0	0	0.361761	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763833	77763833	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:77763833A>T	ENST00000521891.2	+	10	5124	c.4676A>T	c.(4675-4677)cAc>cTc	p.H1559L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1514L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1533L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1514L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1514						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H1559L(2)		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)			CTCTTGGTCCACTATAATTCA	0.408000										HNSCC(33;0.089)			15	43					0	0	0.457914	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67243129	67243129	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:67243129C>A	ENST00000282670.2	+	5	660	c.532C>A	c.(532-534)Ctt>Att	p.L178I		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	178								p.L178I(2)|p.L178F(1)		large_intestine(2)|lung(10)|skin(1)	13						TGCAGTTTACCTTGAGTGATT	0.363000													30	111					3.73148e-12	5.01706e-12	0.717897	1	0
DOCK7	85440	broad.mit.edu	37	1	63084481	63084481	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:63084481C>G	ENST00000251157.5	-	14	1611	c.1578G>C	c.(1576-1578)ccG>ccC	p.P526P	DOCK7_ENST00000340370.5_Silent_p.P526P|DOCK7_ENST00000404627.2_Silent_p.P526P	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	526					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.P526P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAAGCAGCTCCGGAGTTAGGC	0.388000													69	242					0	0	0.870114	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964605	119964605	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:119964605G>C	ENST00000543831.1	+	4	730	c.481G>C	c.(481-483)Gct>Cct	p.A161P	HSD3B2_ENST00000369416.3_Missense_Mutation_p.A161P	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	161					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.A161P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CAAAAAGCTTGCTGAGAAGGC	0.502000													41	136					0	0	0.847076	0	0
GPR83	10888	broad.mit.edu	37	11	94134234	94134234	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:94134234G>C	ENST00000243673.2	-	1	351	c.180C>G	c.(178-180)cgC>cgG	p.R60R	GPR83_ENST00000539203.2_Silent_p.R60R	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	60						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R60R(2)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGCGCCGTAGCGCCTCCTGC	0.582000													21	60					0	0	0.592651	0	0
RYR3	6263	broad.mit.edu	37	15	33872331	33872331	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:33872331C>G	ENST00000389232.4	+	13	1493	c.1423C>G	c.(1423-1425)Ctt>Gtt	p.L475V	RYR3_ENST00000415757.3_Missense_Mutation_p.L475V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	475					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L475V(3)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGACAAAATCTTTTCAAGGA	0.443000													14	15					0	0	0.435327	0	0
GPR112	139378	broad.mit.edu	37	X	135428122	135428122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:135428122G>T	ENST00000394143.1	+	6	2548	c.2257G>T	c.(2257-2259)Gaa>Taa	p.E753*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.E753*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E548*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E548*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.E690*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	753					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E753*(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAATATGCCTGAATTTAAACT	0.373000													51	31					2.69774e-35	5.19743e-35	0.870114	1	0
LAMA3	3909	broad.mit.edu	37	18	21416983	21416983	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:21416983G>T	ENST00000313654.9	+	25	3264	c.3023G>T	c.(3022-3024)cGc>cTc	p.R1008L	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1008L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1008	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1008L(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACATGAGCCGCATCGCCATG	0.488000													16	75					8.00594e-06	8.71605e-06	0.557998	1	0
SPHKAP	80309	broad.mit.edu	37	2	228886442	228886442	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:228886442C>A	ENST00000392056.3	-	6	728	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D228Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	228						cytoplasm	protein binding	p.D228Y(4)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTAGATTCATCCACCTCGCTT	0.443000													32	79					3.99451e-17	6.10406e-17	0.740014	1	0
TENM2	57451	broad.mit.edu	37	5	167645208	167645208	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:167645208C>T	ENST00000519204.1	+	22	4067	c.3949C>T	c.(3949-3951)Ctt>Ttt	p.L1317F	TENM2_ENST00000518659.1_Missense_Mutation_p.L1438F|TENM2_ENST00000545108.1_Missense_Mutation_p.L1437F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1262F|TENM2_ENST00000520394.1_Missense_Mutation_p.L1199F					teneurin transmembrane protein 2									p.L1317F(2)|p.L1438F(2)|p.L1271F(2)									CAATGTCATCCTTCGAATCAC	0.498000													82	133					0	0	0.870114	0	0
AKAP6	9472	broad.mit.edu	37	14	33205041	33205041	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:33205041G>T	ENST00000280979.4	+	11	3495	c.3325G>T	c.(3325-3327)Gaa>Taa	p.E1109*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.E1109*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1109					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.E1109*(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTGAGACAAGAAAAGGAAGG	0.373000													18	82					1.99824e-07	2.25952e-07	0.520397	1	0
DDX53	168400	broad.mit.edu	37	X	23018528	23018528	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:23018528C>T	ENST00000327968.5	+	1	442	c.354C>T	c.(352-354)agC>agT	p.S118S	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	118						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.S118S(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AACAAGAAAGCTACAACTCAG	0.403000													23	52					0	0	0.639603	0	0
AMPH	273	broad.mit.edu	37	7	38471793	38471793	+	Missense_Mutation	SNP	C	C	A	rs145380938		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:38471793C>A	ENST00000356264.2	-	13	1369	c.1154G>T	c.(1153-1155)tGg>tTg	p.W385L	AMPH_ENST00000325590.5_Missense_Mutation_p.W385L|AMPH_ENST00000428293.2_Missense_Mutation_p.W385L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	385					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.W385L(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCTTACCGTCCATAGGTCCCA	0.323000													20	69					4.96729e-08	5.69293e-08	0.575678	1	0
TMEM150C	441027	broad.mit.edu	37	4	83417293	83417293	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:83417293C>T	ENST00000449862.2	-	6	609	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TMEM150C_ENST00000508701.1_Silent_p.P97P|TMEM150C_ENST00000515780.1_Silent_p.P97P|RP11-791G16.2_ENST00000488045.1_RNA	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	97						integral to membrane		p.P97P(2)		ovary(1)	1						TATTCAGCCACGGGTTTAAAA	0.423000													32	90					0	0	0.769981	0	0
C11orf82	220042	broad.mit.edu	37	11	82645123	82645123	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:82645123G>T	ENST00000533655.1	+	6	2955	c.2743G>T	c.(2743-2745)Ggt>Tgt	p.G915C	C11orf82_ENST00000430323.2_Missense_Mutation_p.G915C|C11orf82_ENST00000329143.3_Missense_Mutation_p.G614C|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	915					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.G915C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AACCAATAAAGGTTTAATTAA	0.343000													17	58					1.02788e-11	1.34633e-11	0.520397	1	0
OR10G8	219869	broad.mit.edu	37	11	123900722	123900722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:123900722C>A	ENST00000431524.1	+	1	426	c.393C>A	c.(391-393)taC>taA	p.Y131*		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y131*(2)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CGCTCAGGTACACCAGCATGA	0.542000													58	206					1.46156e-29	2.70619e-29	0.870114	1	0
OR13C8	138802	broad.mit.edu	37	9	107332060	107332060	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:107332060G>T	ENST00000335040.1	+	1	612	c.612G>T	c.(610-612)ctG>ctT	p.L204L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L204L(3)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GGTCGAATCTGATTGTTCTGG	0.353000													31	131					3.1745e-13	4.44079e-13	0.729181	1	0
SLC30A8	169026	broad.mit.edu	37	8	118174010	118174010	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:118174010C>A	ENST00000427715.2	+	8	893	c.459C>A	c.(457-459)ggC>ggA	p.G153G	SLC30A8_ENST00000519688.1_Silent_p.G153G|SLC30A8_ENST00000456015.2_Silent_p.G202G|SLC30A8_ENST00000521243.1_Silent_p.G153G	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	202					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.G202G(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GATGCCTTGGCCACAATCACA	0.448000													16	112					4.7546e-09	5.65352e-09	0.500413	1	0
DDI2	84301	broad.mit.edu	37	1	15983175	15983175	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:15983175G>T	ENST00000480945.1	+	9	1417		c.e9+1			NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)						proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CCCAGACCAGGTATTTATAGA	0.468000													43	149					1.57019e-19	2.5316e-19	0.834066	1	0
MESDC1	59274	broad.mit.edu	37	15	81295579	81295579	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:81295579A>G	ENST00000267984.2	+	1	2285	c.967A>G	c.(967-969)Agg>Ggg	p.R323G		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	323								p.R323G(1)		endometrium(1)|lung(2)	3						GTCGGACCACAGGGAGAGGCT	0.662000													4	11					0	0	0.217242	0	0
THOC2	57187	broad.mit.edu	37	X	122755273	122755273	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:122755273G>A	ENST00000245838.8	-	31	3982	c.3951C>T	c.(3949-3951)acC>acT	p.T1317T	THOC2_ENST00000491737.1_Silent_p.T1202T|THOC2_ENST00000355725.4_Silent_p.T1317T	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1317	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	p.T1317T(2)|p.T1238T(2)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTCTTTCCTTGGTCTCTCTTG	0.413000													93	72					0	0	0.870114	0	0
IL27	246778	broad.mit.edu	37	16	28515060	28515060	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:28515060G>T	ENST00000356897.1	-	3	281	c.259C>A	c.(259-261)Ctc>Atc	p.L87I		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	87					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	p.L87I(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ACATCAGGGAGCTGCTCTCCC	0.647000													17	59					1.33834e-09	1.61151e-09	0.557998	1	0
OR9G4	283189	broad.mit.edu	37	11	56511222	56511222	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:56511222G>T	ENST00000302957.3	-	1	65	c.66C>A	c.(64-66)acC>acA	p.T22T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T22T(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGTCAGGATGGTGCAATTTC	0.423000													22	79					5.26018e-13	7.30474e-13	0.608945	1	0
LAMA2	3908	broad.mit.edu	37	6	129470172	129470172	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:129470172C>A	ENST00000421865.2	+	7	1007	c.958C>A	c.(958-960)Cag>Aag	p.Q320K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	320	Laminin EGF-like 1.				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	p.Q320K(2)		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)		TAGCTGTGATCAGTGCTGTCC	0.408000													41	128					1.47197e-15	2.16249e-15	0.834066	1	0
STT3A	3703	broad.mit.edu	37	11	125482978	125482978	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:125482978C>G	ENST00000392708.4	+	13	1619	c.1460C>G	c.(1459-1461)tCc>tGc	p.S487C	STT3A_ENST00000529196.1_Missense_Mutation_p.S487C|STT3A_ENST00000531491.1_Missense_Mutation_p.S395C	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	487					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	p.S487C(2)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCTTCTCCGTCCATTGTACTA	0.473000													60	227					0	0	0.870114	0	0
TICRR	90381	broad.mit.edu	37	15	90138748	90138748	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:90138748G>T	ENST00000268138.7	+	7	1911	c.1806G>T	c.(1804-1806)gtG>gtT	p.V602V	TICRR_ENST00000560985.1_Silent_p.V601V					TOPBP1-interacting checkpoint and replication regulator									p.V602V(2)									GTCCGGATGTGGCTGGGGAGA	0.443000													20	59					1.01871e-10	1.28564e-10	0.575678	1	0
SEMA6D	80031	broad.mit.edu	37	15	48057248	48057248	+	Missense_Mutation	SNP	T	T	G	rs147987261		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:48057248T>G	ENST00000316364.5	+	13	1861	c.1422T>G	c.(1420-1422)caT>caG	p.H474Q	SEMA6D_ENST00000536845.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389432.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389433.2_Missense_Mutation_p.H474Q|SEMA6D_ENST00000537942.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000354744.4_Missense_Mutation_p.H474Q|SEMA6D_ENST00000558816.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389428.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000355997.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000389425.3_Missense_Mutation_p.H474Q|SEMA6D_ENST00000558014.1_Missense_Mutation_p.H474Q|SEMA6D_ENST00000358066.4_Missense_Mutation_p.H474Q	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	474	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.H474Q(4)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCTACAACCATGCAAAGTAGG	0.423000													17	57					0	0	0.539581	0	0
POM121L12	285877	broad.mit.edu	37	7	53104085	53104085	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:53104085G>T	ENST00000408890.4	+	1	737	c.721G>T	c.(721-723)Ggc>Tgc	p.G241C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	241								p.G241C(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCGAGCCTCGGCCCCTGGAG	0.647000													17	60					1.85244e-09	2.22001e-09	0.654019	1	0
MYH7	4625	broad.mit.edu	37	14	23886822	23886822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:23886822C>A	ENST00000355349.3	-	31	4405	c.4243G>T	c.(4243-4245)Gag>Tag	p.E1415*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1415					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1415*(2)|p.E1415Q(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGGTCTTCTCCAGCGAGGAG	0.607000													26	109					5.60225e-13	7.75148e-13	0.740014	1	0
AHCY	191	broad.mit.edu	37	20	32878562	32878562	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:32878562G>A	ENST00000538132.1	-	6	1043	c.657C>T	c.(655-657)atC>atT	p.I219I	AHCY_ENST00000217426.2_Silent_p.I247I	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	247					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	p.I247I(2)		endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGTGCGTTGATGGGGTCAA	0.632000													68	186					0	0	0.870114	0	0
NCAM2	4685	broad.mit.edu	37	21	22849675	22849675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:22849675G>T	ENST00000400546.1	+	15	2209	c.1960G>T	c.(1960-1962)Gag>Tag	p.E654*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E512*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	654	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.E654*(3)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CATCATTTTGGAGCATCTCCA	0.388000													12	52					0.010729	0.0109448	0.387290	1	0
HLA-A	3105	broad.mit.edu	37	6	29911151	29911151	+	Silent	SNP	G	G	A	rs41558213		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:29911151G>A	ENST00000396634.1	+	5	791	c.450G>A	c.(448-450)ctG>ctA	p.L150L	HLA-A_ENST00000376806.5_Silent_p.L150L|HLA-A_ENST00000376809.5_Silent_p.L150L|HLA-A_ENST00000376802.2_Silent_p.L150L			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	150	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACATCGCCCTGAACGAGGACC	0.647000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	31					0	0	0.184627	0	0
TMEM143	55260	broad.mit.edu	37	19	48845927	48845927	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:48845927C>T	ENST00000293261.3	-	6	1151	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	TMEM143_ENST00000435956.3_Missense_Mutation_p.A244T|TMEM143_ENST00000436660.2_Missense_Mutation_p.A214T|TMEM143_ENST00000541566.1_Missense_Mutation_p.A169T|TMEM143_ENST00000377431.2_Missense_Mutation_p.A179T	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	279						integral to membrane|mitochondrion		p.A279T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTGAGCAGGGCGCGCTGCAGG	0.642000													15	38					0	0	0.479597	0	0
POLR3A	11128	broad.mit.edu	37	10	79784770	79784770	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:79784770C>A	ENST00000372371.3	-	4	586	c.449G>T	c.(448-450)tGc>tTc	p.C150F		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	150					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.C150F(2)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTTCTTCCGGCACTTGTCAGA	0.468000													43	76					2.26627e-22	3.83252e-22	0.834066	1	0
GATA3	2625	broad.mit.edu	37	10	8105983	8105983	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:8105983C>A	ENST00000379328.3	+	4	1374	c.806C>A	c.(805-807)gCa>gAa	p.A269E	GATA3_ENST00000346208.3_Missense_Mutation_p.A268E|GATA3_ENST00000461472.1_Intron	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	268					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.A269E(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AACTGTGGGGCAACCTCGACC	0.552000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						30	121					2.81731e-10	3.48614e-10	0.750413	1	0
MARCO	8685	broad.mit.edu	37	2	119727850	119727850	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:119727850C>A	ENST00000541757.1	+	4	506	c.126C>A	c.(124-126)ctC>ctA	p.L42L	MARCO_ENST00000327097.4_Silent_p.L120L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	120					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.L120L(2)		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						AGGCCCAACTCACCTGGGTCC	0.612000													17	77					8.00594e-06	8.71605e-06	0.557998	1	0
RTP2	344892	broad.mit.edu	37	3	187416442	187416442	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:187416442C>T	ENST00000358241.1	-	2	950	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	174					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.E174E(2)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TGGTCACCTCCTCCTCCAGCA	0.647000													21	61					0	0	0.624587	0	0
TGFBR1	7046	broad.mit.edu	37	9	101904899	101904899	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:101904899C>T	ENST00000374994.4	+	5	1004	c.887C>T	c.(886-888)aCa>aTa	p.T296I	TGFBR1_ENST00000550253.1_Missense_Mutation_p.T227I|TGFBR1_ENST00000552516.1_Missense_Mutation_p.T300I|TGFBR1_ENST00000374990.2_Missense_Mutation_p.T219I	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	296	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.T296I(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AACAGATACACAGTTACTGTG	0.418000													8	132					0	0	0.307466	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965693	88965693	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:88965693G>T	ENST00000333190.4	+	4	4006	c.3397G>T	c.(3397-3399)Gaa>Taa	p.E1133*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1133						intracellular	zinc ion binding	p.E1133*(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGACGGATTAGAAATGTGTCA	0.363000										HNSCC(36;0.09)			24	88					7.33532e-06	8.00886e-06	0.667858	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43925996	43925996	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:43925996C>A	ENST00000389420.3	-	3	455	c.456G>T	c.(454-456)acG>acT	p.T152T	ADAMTS20_ENST00000553158.1_Silent_p.T152T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	152				T -> V (in Ref. 2; CAD56159/CAD56160).		proteinaceous extracellular matrix	zinc ion binding	p.T152T(2)|p.V152V(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAAATGTTCCCGTCTGAAAAT	0.353000													24	69					5.61819e-17	8.53381e-17	0.693898	1	0
CPQ	10404	broad.mit.edu	37	8	97797421	97797421	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:97797421G>T	ENST00000220763.5	+	2	506	c.296G>T	c.(295-297)gGg>gTg	p.G99V		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	99					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	p.G99V(2)									CAGCAAGATGGGCTGGAGAAA	0.488000													33	66					1.08312e-15	1.5943e-15	0.740014	1	0
MCM2	4171	broad.mit.edu	37	3	127324962	127324962	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:127324962G>T	ENST00000265056.7	+	5	919	c.673_splice	c.e5-1	p.E225_splice		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	225	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.E225D(1)		ovary(3)|skin(2)|stomach(1)	6						CCCTTCTAGAGAACCGTGAGA	0.602000													29	83					7.01153e-11	8.87817e-11	0.717897	1	0
DAW1	164781	broad.mit.edu	37	2	228771916	228771916	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:228771916A>T	ENST00000373666.2	+	10	1557	c.921A>T	c.(919-921)ctA>ctT	p.L307L	DAW1_ENST00000309931.2_Silent_p.L307L|DAW1_ENST00000545118.1_Silent_p.L292L					dynein assembly factor with WDR repeat domains 1									p.L307L(2)									ATGAAATACTAGACAGCTGCT	0.353000													7	45					0	0	0.307466	0	0
CCDC88A	55704	broad.mit.edu	37	2	55549736	55549736	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:55549736C>A	ENST00000436346.1	-	18	3931	c.3090G>T	c.(3088-3090)tgG>tgT	p.W1030C	CCDC88A_ENST00000336838.6_Missense_Mutation_p.W1029C|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.W1030C|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.W1029C	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1030					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.W1029C(2)|p.W1030C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTCTCGCTCCCATTTGTTGT	0.328000													93	119					1.7666e-45	3.51013e-45	0.870114	1	0
GPR111	222611	broad.mit.edu	37	6	47646847	47646847	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:47646847C>A	ENST00000398742.2	+	3	293	c.244C>A	c.(244-246)Ctt>Att	p.L82I	GPR111_ENST00000507065.1_Missense_Mutation_p.L82I|GPR111_ENST00000296862.1_Missense_Mutation_p.L150I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L150I(2)|p.L82I(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGCCAGACTCTTAATGCCCT	0.458000													11	95					0.000978159	0.00102532	0.387290	1	0
LMO2	4005	broad.mit.edu	37	11	33886333	33886333	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:33886333G>A	ENST00000257818.2	-	5	1108	c.279C>T	c.(277-279)ccC>ccT	p.P93P	LMO2_ENST00000395833.3_Silent_p.P24P	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	24					multicellular organismal development	nucleus	protein binding|zinc ion binding	p.P24P(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GCAGGGATGGGGGGATCTGCA	0.617000			T	TRD@	T-ALL								9	70					0	0	0.411799	0	0
SCN4A	6329	broad.mit.edu	37	17	62019252	62019252	+	Missense_Mutation	SNP	C	C	T	rs150423825	by1000genomes	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:62019252C>T	ENST00000435607.1	-	24	4466	c.4390G>A	c.(4390-4392)Ggg>Agg	p.G1464R	SCN4A_ENST00000578147.1_Missense_Mutation_p.G1464R	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1464					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1464R(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCCTTGGCCCCGCGGATCAGC	0.617000													23	42					0	0	0.624587	0	0
MOXD1	26002	broad.mit.edu	37	6	132693794	132693794	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:132693794G>T	ENST00000367963.3	-	4	734	c.616C>A	c.(616-618)Caa>Aaa	p.Q206K	MOXD1_ENST00000336749.3_Missense_Mutation_p.Q138K	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	206					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.Q206K(2)|p.Q138K(2)		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)		TTAAACATTTGGCACCAATAT	0.348000													21	86					1.50039e-11	1.94183e-11	0.608945	1	0
TTN	7273	broad.mit.edu	37	2	179565924	179565924	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:179565924G>T	ENST00000589042.1	-	111	30829	c.30605C>A	c.(30604-30606)cCt>cAt	p.P10202H	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P8958H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P9885H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9885	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P8958H(2)		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)			AACCACAGGAGGGATTTCTGA	0.368000													48	142					6.31075e-24	1.089e-23	0.870114	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24889599	24889599	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:24889599C>A	ENST00000396432.2	-	14	3594	c.3108G>T	c.(3106-3108)caG>caT	p.Q1036H	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.Q823H	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1035	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.Q1035H(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTGCTCTCCTGGATCGTCT	0.443000													25	131					1.66031e-10	2.08154e-10	0.667858	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296585	28296585	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:28296585G>A	ENST00000284987.5	-	8	2701	c.2580C>T	c.(2578-2580)aaC>aaT	p.N860N	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	860	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.N860N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TAGTGACAGAGTTTACTTTTG	0.483000													47	128					0	0	0.859065	0	0
CTCFL	140690	broad.mit.edu	37	20	56078492	56078492	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:56078492C>A	ENST00000429804.2	-	9	2250	c.1690_splice	c.e9+1	p.E564_splice	CTCFL_ENST00000423479.2_Splice_Site_p.E614_splice|CTCFL_ENST00000433949.2_Splice_Site_p.G614_splice|CTCFL_ENST00000371196.2_Splice_Site_p.E614_splice|CTCFL_ENST00000502686.2_Splice_Site_p.G352_splice|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000243914.3_Splice_Site_p.E614_splice	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	614					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.E614*(2)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAATCAGTACCGTCTCCGTTC	0.512000													56	134					8.72158e-25	1.52228e-24	0.870114	1	0
ZFP42	132625	broad.mit.edu	37	4	188924008	188924008	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:188924008G>T	ENST00000326866.4	+	4	455	c.47G>T	c.(46-48)gGc>gTc	p.G16V	ZFP42_ENST00000509524.1_Missense_Mutation_p.G16V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	16					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G16V(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CACCAGAAAGGCCTGGGTGGA	0.547000													25	132					1.1804e-14	1.70452e-14	0.667858	1	0
PCDH20	64881	broad.mit.edu	37	13	61987564	61987564	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:61987564G>T	ENST00000409186.1	-	5	2773	c.668C>A	c.(667-669)cCt>cAt	p.P223H	PCDH20_ENST00000409204.4_Missense_Mutation_p.P223H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	196	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P196H(2)|p.P223H(2)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTGTTTACAGGTGCATTTTC	0.517000													58	148					1.54043e-34	2.96028e-34	0.870114	1	0
TLL1	7092	broad.mit.edu	37	4	166935713	166935713	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:166935713G>T	ENST00000061240.2	+	8	1689		c.e8+1		TLL1_ENST00000507499.1_Splice_Site|TLL1_ENST00000513213.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGATGTCCAGGTATTGCACTA	0.458000													44	193					2.00842e-17	3.11285e-17	0.853193	1	0
TIE1	7075	broad.mit.edu	37	1	43779579	43779579	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:43779579G>T	ENST00000372476.3	+	14	2428	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L	TIE1_ENST00000433781.2_Silent_p.L428L|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	783					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.L783L(3)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTTAACCCTGGTGTGCATCC	0.657000													17	52					3.62473e-10	4.44907e-10	0.608945	1	0
RBM17	84991	broad.mit.edu	37	10	6157491	6157491	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:6157491G>C	ENST00000446108.1	+	12	1822	c.1178G>C	c.(1177-1179)aGg>aCg	p.R393T	RBM17_ENST00000379888.4_Missense_Mutation_p.R393T|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	393					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.R393T(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GACAAATTCAGGGTCTTGGAT	0.408000													38	167					0	0	0.812448	0	0
ARSH	347527	broad.mit.edu	37	X	2936699	2936699	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:2936699G>T	ENST00000381130.2	+	5	889	c.889G>T	c.(889-891)Gat>Tat	p.D297Y		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	297						integral to membrane	arylsulfatase activity|metal ion binding	p.D297Y(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGAAGAAATGGATTGGATGGT	0.398000													7	27					0.00198382	0.00205399	0.248553	1	0
MAGEB3	4114	broad.mit.edu	37	X	30254905	30254905	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:30254905C>T	ENST00000361644.2	+	5	1601	c.864C>T	c.(862-864)gtC>gtT	p.V288V	MAGEB3_ENST00000378986.1_Silent_p.V288V	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	288	MAGE.							p.V288V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AGATGAAGGTCCTGGAGTTTT	0.493000													11	44					0	0	0.361761	0	0
TBC1D5	9779	broad.mit.edu	37	3	17208408	17208408	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:17208408G>T	ENST00000253692.7	-	21	3609	c.1945C>A	c.(1945-1947)Cta>Ata	p.L649I	TBC1D5_ENST00000446818.2_Missense_Mutation_p.L671I|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.L649I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	649						intracellular	protein binding|Rab GTPase activator activity	p.L649I(2)		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						GAACCTTTTAGAATGTCTTTG	0.423000													17	31					1.15088e-07	1.30524e-07	0.500413	1	0
SLC1A3	6507	broad.mit.edu	37	5	36686351	36686351	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:36686351G>T	ENST00000265113.4	+	10	2085	c.1609G>T	c.(1609-1611)Gac>Tac	p.D537Y	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.D492Y	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	537					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.D537Y(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GAAACCCATCGACAGTGAAAC	0.363000													64	128					1.33661e-31	2.53025e-31	0.870114	1	0
OR4K14	122740	broad.mit.edu	37	14	20483031	20483031	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:20483031T>C	ENST00000305045.2	-	1	321	c.322A>G	c.(322-324)Act>Gct	p.T108A		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T108A(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCCCACCAGTAAAGTGCAAG	0.463000													18	76					0	0	0.557998	0	0
ITGA8	8516	broad.mit.edu	37	10	15628598	15628598	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:15628598T>A	ENST00000378076.3	-	23	2710	c.2357A>T	c.(2356-2358)cAg>cTg	p.Q786L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	786					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.Q786L(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATTTCCACCTGCGCTACAGC	0.368000													14	55					0	0	0.539581	0	0
EYS	346007	broad.mit.edu	37	6	66053948	66053948	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:66053948G>T	ENST00000503581.1	-	10	2119	c.1582C>A	c.(1582-1584)Cat>Aat	p.H528N	EYS_ENST00000370621.3_Missense_Mutation_p.H528N|EYS_ENST00000393380.2_Missense_Mutation_p.H528N|EYS_ENST00000370616.2_Missense_Mutation_p.H528N|EYS_ENST00000370618.3_Missense_Mutation_p.H528N|EYS_ENST00000342421.5_Missense_Mutation_p.H528N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	528					response to stimulus|visual perception	extracellular region	calcium ion binding	p.H528N(4)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTGCCTTCATGTGGGAACCAA	0.353000													22	86					1.55795e-14	2.23698e-14	0.608945	1	0
ING3	54556	broad.mit.edu	37	7	120608099	120608099	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:120608099G>C	ENST00000315870.5	+	8	816	c.668G>C	c.(667-669)gGg>gCg	p.G223A	ING3_ENST00000431467.1_Missense_Mutation_p.G208A	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	223					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	p.G223A(2)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACTGGTGCAGGGGCAATTACC	0.433000													24	66					0	0	0.639603	0	0
MIR409	574413	broad.mit.edu	37	14	101531710	101531710	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:101531710G>A	ENST00000362237.1	+	0	74					NR_029975.1																						CCCCTTTTCGGTATCAAATTC	0.592000													27	67					0	0	0.706142	0	0
COL6A6	131873	broad.mit.edu	37	3	130313158	130313158	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:130313158C>A	ENST00000358511.6	+	17	4535	c.4504C>A	c.(4504-4506)Cgt>Agt	p.R1502S	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1502S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1502	Triple-helical region.				axon guidance|cell adhesion	collagen		p.R1502S(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCTGGTGACCGTGGAGCAAA	0.463000													29	101					3.73148e-12	5.01706e-12	0.717897	1	0
CHL1	10752	broad.mit.edu	37	3	382518	382518	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:382518G>T	ENST00000256509.2	+	6	1069	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	CHL1_ENST00000397491.2_Missense_Mutation_p.V143L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	143	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.V143L(2)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCCTCTTGAAGTGGAGGAGGG	0.368000													19	41					1.56452e-12	2.12988e-12	0.557998	1	0
CLIP2	7461	broad.mit.edu	37	7	73768231	73768231	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:73768231G>T	ENST00000223398.6	+	4	1027	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	CLIP2_ENST00000361545.5_Missense_Mutation_p.V234L|CLIP2_ENST00000395060.1_Missense_Mutation_p.V234L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	234						microtubule associated complex		p.V234L(2)|p.V234M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAAGACTGGCGTGGTGCGGTA	0.652000													42	180					3.77016e-25	6.61081e-25	0.864702	1	0
ITPR1	3708	broad.mit.edu	37	3	4718485	4718485	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:4718485G>T	ENST00000302640.8	+	23	3272	c.2922_splice	c.e23+1	p.Q974_splice	ITPR1_ENST00000443694.2_Splice_Site_p.Q974_splice|ITPR1_ENST00000456211.2_Splice_Site_p.Q965_splice|ITPR1_ENST00000423119.2_Splice_Site_p.Q980_splice|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Splice_Site_p.Q980_splice|ITPR1_ENST00000354582.6_Splice_Site_p.Q989_splice	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	989					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.Q965H(2)|p.Q974H(2)|p.Q980H(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGATACTCCAGGTATCCACTA	0.547000													9	26					0.000274275	0.000289491	0.307466	1	0
ABCC11	85320	broad.mit.edu	37	16	48218375	48218375	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:48218375G>T	ENST00000394747.1	-	22	3583	c.3234C>A	c.(3232-3234)gtC>gtA	p.V1078V	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.V1078V|ABCC11_ENST00000356608.2_Silent_p.V1078V|ABCC11_ENST00000394748.1_Silent_p.V1078V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1078	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V1078V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGACAGCCATGACTTTAAAGG	0.562000													62	94					9.4991e-31	1.79375e-30	0.870114	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961382	73961382	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:73961382T>C	ENST00000373468.1	-	3	3661	c.3010A>G	c.(3010-3012)Agt>Ggt	p.S1004G	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S1004G			Q5QGS0	K2022_HUMAN	KIAA2022	1004					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.S1004G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAATAATTACTTGAGCTGACA	0.473000													17	71					0	0	0.520397	0	0
TBC1D23	55773	broad.mit.edu	37	3	100002603	100002603	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:100002603C>A	ENST00000394144.4	+	4	431	c.424C>A	c.(424-426)Cgc>Agc	p.R142S	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.R142S|TBC1D23_ENST00000475134.1_Intron	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	142	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.R142S(4)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCAACTGCCACGCAGCGATTT	0.338000													15	93					1.67942e-08	1.96319e-08	0.539581	1	0
NLRP12	91662	broad.mit.edu	37	19	54304586	54304586	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:54304586T>C	ENST00000324134.6	-	7	2819	c.2651A>G	c.(2650-2652)cAg>cGg	p.Q884R	NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.Q884R|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.Q885R|NLRP12_ENST00000391775.3_Missense_Mutation_p.Q884R|NLRP12_ENST00000391773.1_Missense_Mutation_p.Q885R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	884					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.Q884R(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTCAGGCTCTGGTTCACACT	0.592000													25	64					0	0	0.717897	0	0
TRIM29	23650	broad.mit.edu	37	11	119996441	119996441	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:119996441C>A	ENST00000341846.5	-	4	1712	c.1291G>T	c.(1291-1293)Gac>Tac	p.D431Y	TRIM29_ENST00000541857.1_Missense_Mutation_p.D164Y|TRIM29_ENST00000529044.1_Missense_Mutation_p.D170Y	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	431					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D431Y(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGCTCAGGTCCGCCTTGCAC	0.562000													21	81					1.55795e-14	2.23698e-14	0.608945	1	0
TXLNB	167838	broad.mit.edu	37	6	139583834	139583834	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:139583834G>T	ENST00000358430.3	-	5	996	c.764C>A	c.(763-765)aCg>aAg	p.T255K		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	255						cytoplasm		p.T255K(2)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGGATGTCCGTGAGGGTACT	0.488000													45	117					8.99859e-20	1.46011e-19	0.870114	1	0
OR1D5	8386	broad.mit.edu	37	17	2966144	2966144	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:2966144C>A	ENST00000575751.1	-	1	757	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(4)		kidney(1)|lung(10)	11						AGCAAGCGTCCCATAAAAGAG	0.498000													24	88					7.87624e-14	1.11203e-13	0.639603	1	0
HMCN1	83872	broad.mit.edu	37	1	185959564	185959564	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:185959564G>A	ENST00000271588.4	+	22	3595	c.3366G>A	c.(3364-3366)ccG>ccA	p.P1122P	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.P1122P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1122	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.P1122P(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATCTCACCGTTCTCTCCAA	0.468000													53	126					0	0	0.870114	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661084	162661084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:162661084G>T	ENST00000375514.5	+	4	576	c.289G>T	c.(289-291)Gga>Tga	p.G97*	SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000446997.1_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.G86*|SLC4A10_ENST00000535165.1_Nonsense_Mutation_p.G86*	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	86					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.G86*(4)		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						ATTAGAGGATGGAAGGGAGTC	0.378000													3	32					0.004672	0.00479163	0.115264	1	0
PAPPA2	60676	broad.mit.edu	37	1	176738883	176738883	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:176738883C>T	ENST00000367662.3	+	16	5628	c.4464C>T	c.(4462-4464)cgC>cgT	p.R1488R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1488	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1488R(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTGAAACGCTGCTCAATCT	0.522000													22	222					0	0	0.608945	0	0
GFRAL	389400	broad.mit.edu	37	6	55216293	55216293	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:55216293C>A	ENST00000340465.2	+	5	699	c.613C>A	c.(613-615)Ctt>Att	p.L205I		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	205						integral to membrane	receptor activity	p.L205I(2)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAAGAAGCTCTTCACAGCAA	0.428000													48	104					1.61004e-24	2.79735e-24	0.870114	1	0
ACAN	176	broad.mit.edu	37	15	89400186	89400186	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:89400186T>C	ENST00000439576.2	+	12	4744	c.4370T>C	c.(4369-4371)cTa>cCa	p.L1457P	ACAN_ENST00000352105.7_Missense_Mutation_p.L1457P|ACAN_ENST00000559004.1_Missense_Mutation_p.L1457P|ACAN_ENST00000561243.1_Missense_Mutation_p.L1457P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1457					cell adhesion		hyaluronic acid binding|sugar binding	p.L1343P(4)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGAAGTTCTAGAGACTTCT	0.517000													84	149					0	0	0.870114	0	0
SUPT7L	9913	broad.mit.edu	37	2	27884203	27884203	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:27884203C>A	ENST00000337768.5	-	3	636	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	SUPT7L_ENST00000464789.2_Missense_Mutation_p.D21Y|SUPT7L_ENST00000406540.1_Missense_Mutation_p.D21Y|SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000405491.1_Missense_Mutation_p.D21Y	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	23					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.D23Y(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GGGAGCAAATCGAAGGAACTT	0.507000													28	58					3.57733e-08	4.11853e-08	0.740014	1	0
ZNF282	8427	broad.mit.edu	37	7	148921335	148921335	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:148921335C>T	ENST00000262085.3	+	8	1717	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	538					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R538C(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CATCCACCACCGCAGCCACAC	0.682000													11	30					0	0	0.387290	0	0
IGLV1-40	28825	broad.mit.edu	37	22	22764308	22764308	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr22:22764308C>A	ENST00000390299.2	+	0	101																											CTTCCAGGGTCCTGGGCCCAG	0.617000											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	68	124					1.17253e-29	2.17633e-29	0.870114	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885855	88885855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:88885855G>T	ENST00000319675.3	-	1	441	c.345C>A	c.(343-345)taC>taA	p.Y115*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	115								p.Y115*(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTTGTGCGGGTATACCCGGA	0.552000													44	157					1.34996e-11	1.75911e-11	0.847076	1	0
ZNF354A	6940	broad.mit.edu	37	5	178139390	178139390	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:178139390T>A	ENST00000335815.2	-	5	1686	c.1489A>T	c.(1489-1491)Aac>Tac	p.N497Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	497					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N497Y(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CCACACTCGTTACATTTATAG	0.388000													50	101					0	0	0.870114	0	0
SH2D2A	9047	broad.mit.edu	37	1	156784833	156784833	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:156784833G>T	ENST00000392306.2	-	3	443	c.304C>A	c.(304-306)Cgg>Agg	p.R102R	SH2D2A_ENST00000368198.3_Silent_p.R84R|SH2D2A_ENST00000368199.3_Silent_p.R102R|SH2D2A_ENST00000495306.1_5'UTR	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	102	SH2.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.R102R(4)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTCACCTCCGGGTGATGAAG	0.637000													5	51					0.000602214	0.000632991	0.184627	1	0
OR6S1	341799	broad.mit.edu	37	14	21108972	21108972	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:21108972A>G	ENST00000320704.3	-	1	878	c.879T>C	c.(877-879)taT>taC	p.Y293Y		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y293Y(2)		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)		TACGTAAGGCATAGATGAATG	0.438000													60	189					0	0	0.870114	0	0
ZNF181	339318	broad.mit.edu	37	19	35232200	35232200	+	Missense_Mutation	SNP	T	T	G	rs143797666		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:35232200T>G	ENST00000392232.3	+	6	1214	c.1046T>G	c.(1045-1047)gTc>gGc	p.V349G	ZNF181_ENST00000459757.1_Missense_Mutation_p.V304G|ZNF181_ENST00000492450.1_Missense_Mutation_p.V305G			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V241G(4)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTTAGCCATGTCTCATCACTT	0.413000													5	114					0	0	0.217242	0	0
TPRG1	285386	broad.mit.edu	37	3	188925302	188925302	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:188925302G>T	ENST00000345063.3	+	2	296	c.129G>T	c.(127-129)agG>agT	p.R43S	TPRG1_ENST00000433971.1_Missense_Mutation_p.R43S	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	43								p.R43S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AGATTTCAAGGCAGTCAAGTG	0.473000													39	128					4.00102e-26	7.11396e-26	0.819951	1	0
SPATS1	221409	broad.mit.edu	37	6	44337843	44337843	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:44337843A>G	ENST00000288390.2	+	6	1098	c.751A>G	c.(751-753)Att>Gtt	p.I251V	SPATS1_ENST00000323108.8_Missense_Mutation_p.I251V			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	251								p.I251V(4)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTCCACAAATTCCCAAGTG	0.343000													30	112					0	0	0.729181	0	0
GPM6A	2823	broad.mit.edu	37	4	176556078	176556078	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:176556078T>A	ENST00000280187.7	-	8	860	c.815A>T	c.(814-816)gAg>gTg	p.E272V	GPM6A_ENST00000515090.1_Missense_Mutation_p.E265V|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000393658.2_Missense_Mutation_p.E272V|GPM6A_ENST00000506894.1_Missense_Mutation_p.E261V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	272						cell surface|integral to membrane		p.E272V(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATTGAGCCGCTCTTTGGAGCG	0.448000													26	68					0	0	0.706142	0	0
PKD1L1	168507	broad.mit.edu	37	7	47869180	47869180	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:47869180C>T	ENST00000289672.2	-	44	6628	c.6578G>A	c.(6577-6579)gGt>gAt	p.G2193D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2193					cell-cell adhesion	integral to membrane		p.G2193D(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCAAGCAAAACCCAAGGCCAT	0.498000													30	205					0	0	0.729181	0	0
ESYT2	57488	broad.mit.edu	37	7	158531731	158531731	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:158531731C>G	ENST00000251527.5	-	18	2396	c.2331G>C	c.(2329-2331)gtG>gtC	p.V777V	ESYT2_ENST00000435514.2_Silent_p.V212V	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	805						integral to membrane|plasma membrane		p.V777V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CATGCACGACCACGATAAGCT	0.607000													25	112					0	0	0.654019	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33643548	33643548	+	Missense_Mutation	SNP	C	C	A	rs138321976		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:33643548C>A	ENST00000504830.1	-	10	1842	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V503L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	503	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V503L(2)		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						AAGCCCTTCACGGAGCACCAC	0.468000										HNSCC(64;0.19)			42	110					1.41504e-22	2.39831e-22	0.859065	1	0
CPQ	10404	broad.mit.edu	37	8	97892084	97892084	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:97892084A>T	ENST00000220763.5	+	4	910	c.700A>T	c.(700-702)Att>Ttt	p.I234F		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	234					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	p.I234F(2)									AACAGCCTGTATTACGGTGGA	0.453000													122	198					0	0	0.870114	0	0
TMEM132E	124842	broad.mit.edu	37	17	32962070	32962070	+	Silent	SNP	G	G	T	rs146893987	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:32962070G>T	ENST00000321639.5	+	8	1999	c.1671G>T	c.(1669-1671)acG>acT	p.T557T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	557						integral to membrane		p.T557T(3)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		ACAGCAGCACGCTGGCAGGAC	0.617000													19	47					6.49762e-13	8.95777e-13	0.539581	1	0
CACNA1H	8912	broad.mit.edu	37	16	1261227	1261227	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:1261227G>T	ENST00000348261.5	+	22	4531	c.4283G>T	c.(4282-4284)aGg>aTg	p.R1428M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1428M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1428M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1428					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	p.R1428M(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCATCACTCAGGCCCATTGGG	0.597000													86	73					1.26005e-42	2.49714e-42	0.870114	1	0
PANX3	116337	broad.mit.edu	37	11	124489566	124489566	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:124489566A>G	ENST00000284288.2	+	4	981	c.914A>G	c.(913-915)tAt>tGt	p.Y305C		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	305					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.Y305C(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTATCTGTCTATGAGATGCTC	0.443000													40	136					0	0	0.840704	0	0
NDST3	9348	broad.mit.edu	37	4	119064823	119064823	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:119064823C>A	ENST00000296499.5	+	6	1926	c.1523C>A	c.(1522-1524)aCt>aAt	p.T508N	NDST3_ENST00000433996.2_Missense_Mutation_p.T427N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	508	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.T508N(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTTTCTTCACTGTCGTCCTC	0.428000													36	76					2.42023e-17	3.7208e-17	0.779181	1	0
UROC1	131669	broad.mit.edu	37	3	126224636	126224636	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:126224636C>T	ENST00000290868.2	-	8	774	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	UROC1_ENST00000383579.3_Missense_Mutation_p.G241R	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	241					histidine catabolic process	cytosol	urocanate hydratase activity	p.G241R(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AAGACCTTCCCAGCCAAGTCC	0.637000													16	67					0	0	0.575678	0	0
ATP6V0B	533	broad.mit.edu	37	1	44441771	44441771	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:44441771G>A	ENST00000532642.1	+	3	223	c.126G>A	c.(124-126)acG>acA	p.T42T	ATP6V0B_ENST00000472174.2_Silent_p.T42T|ATP6V0B_ENST00000236067.4_5'UTR|ATP6V0B_ENST00000498664.1_5'UTR|ATP6V0B_ENST00000471859.2_Silent_p.T89T|ATP6V0B_ENST00000472277.1_3'UTR			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	42					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	p.T42T(2)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGTTCCTGACGGAGACTTCGC	0.562000													15	208					0	0	0.557998	0	0
CD40LG	959	broad.mit.edu	37	X	135730460	135730460	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:135730460C>G	ENST00000370629.2	+	1	109	c.53C>G	c.(52-54)cCc>cGc	p.P18R	CD40LG_ENST00000370628.2_Missense_Mutation_p.P18R	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	18					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.P18R(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	ACTGGACTGCCCATCAGCATG	0.423000									Immune Deficiency with Hyper-IgM				99	52					0	0	0.870114	0	0
ALG2	85365	broad.mit.edu	37	9	101980430	101980430	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:101980430G>A	ENST00000476832.1	-	2	1098	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ALG2_ENST00000319033.6_Missense_Mutation_p.S253L	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	346					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.S346L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGGTCCACCCGAATTAACAGC	0.507000													11	105					0	0	0.361761	0	0
GPR55	9290	broad.mit.edu	37	2	231775240	231775240	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:231775240C>A	ENST00000392040.1	-	2	630	c.438G>T	c.(436-438)tgG>tgT	p.W146C	GPR55_ENST00000392039.2_Missense_Mutation_p.W146C	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	146					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.W146C(2)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ACACCAGGACCCAGATGGTGC	0.542000													43	98					1.57019e-19	2.5316e-19	0.834066	1	0
WBSCR22	114049	broad.mit.edu	37	7	73101344	73101344	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:73101344G>T	ENST00000265758.2	+	5	339	c.281G>T	c.(280-282)cGa>cTa	p.R94L	WBSCR22_ENST00000423497.1_Missense_Mutation_p.R94L|WBSCR22_ENST00000423166.2_Intron	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	94						nucleus	methyltransferase activity	p.R94L(2)		autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCTGTGGACCGAGAGATAGAG	0.522000													27	125					1.17739e-12	1.60861e-12	0.693898	1	0
VEGFC	7424	broad.mit.edu	37	4	177608608	177608608	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:177608608C>A	ENST00000280193.2	-	6	1293	c.878G>T	c.(877-879)tGt>tTt	p.C293F	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	293	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.C293F(2)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCTGCAGACACACTGACAGGT	0.483000													23	89					3.8784e-16	5.76458e-16	0.608945	1	0
ARHGAP5	394	broad.mit.edu	37	14	32560197	32560197	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:32560197C>T	ENST00000345122.3	+	2	637	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R108W|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R108W|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R108W|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	108					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.R108S(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTTGCCTCATCGGAGTACGAA	0.383000													38	131					0	0	0.796494	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98503797	98503797	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:98503797G>T	ENST00000394162.1	+	7	811	c.344G>T	c.(343-345)tGt>tTt	p.C115F	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.C115F|ST3GAL6_ENST00000265261.6_Intron	NM_006100.2	NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	115					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	p.C115F(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AGCATACCCTGTAAAAAGTGT	0.368000													30	83					9.78306e-22	1.63624e-21	0.740014	1	0
AKNA	80709	broad.mit.edu	37	9	117139580	117139580	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:117139580C>A	ENST00000307564.4	-	3	668	c.507G>T	c.(505-507)agG>agT	p.R169S	AKNA_ENST00000374088.3_Missense_Mutation_p.R169S|AKNA_ENST00000312033.3_Missense_Mutation_p.R169S|AKNA_ENST00000374075.5_Missense_Mutation_p.R88S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R169S(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCACCCAGCCCCTGGCCTGAC	0.592000													37	62					2.79145e-41	5.48913e-41	0.870114	1	0
SLC5A12	159963	broad.mit.edu	37	11	26700315	26700315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:26700315C>A	ENST00000396005.3	-	13	1832	c.1523G>T	c.(1522-1524)aGt>aTt	p.S508I		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	508					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.S508I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCCCACTGCACTGTAGTAAAG	0.463000													44	86					7.05121e-23	1.20044e-22	0.853193	1	0
TUBB6	84617	broad.mit.edu	37	18	12325202	12325202	+	Missense_Mutation	SNP	G	G	C	rs148645230	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:12325202G>C	ENST00000591208.1	+	5	363	c.332G>C	c.(331-333)cGc>cCc	p.R111P	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000317702.5_Silent_p.S138S	NM_032525.1	NP_115914.1	Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	0					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.S138S(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		TCACGCACTCGCTGGGCGGCG	0.657000													35	62					0	0	0.779181	0	0
TNNI3K	51086	broad.mit.edu	37	1	74902192	74902192	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:74902192C>T	ENST00000370891.2	+	21	2179	c.2163C>T	c.(2161-2163)aaC>aaT	p.N721N	FPGT-TNNI3K_ENST00000557284.1_Silent_p.N721N|TNNI3K_ENST00000326637.3_Silent_p.N620N|FPGT-TNNI3K_ENST00000370899.3_Silent_p.N721N	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase									p.N620N(2)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						ATGAAGACAACATGACAAAAC	0.358000													10	74					0	0	0.387290	0	0
ALOX5	240	broad.mit.edu	37	10	45938974	45938974	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:45938974G>A	ENST00000374391.2	+	11	1615	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	ALOX5_ENST00000542434.1_Missense_Mutation_p.R521H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	521	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.R521H(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	ATGCGGGGCCGCAAGTCCTCA	0.692000													4	32					0	0	0.150653	0	0
PTPRC	5788	broad.mit.edu	37	1	198721475	198721475	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:198721475G>T	ENST00000367376.2	+	30	3470	c.3299G>T	c.(3298-3300)cGt>cTt	p.R1100L	PTPRC_ENST00000442510.2_Missense_Mutation_p.R1102L|PTPRC_ENST00000594404.1_Missense_Mutation_p.R939L|PTPRC_ENST00000348564.6_Missense_Mutation_p.R941L|PTPRC_ENST00000352140.3_Missense_Mutation_p.R1052L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1100	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1100L(2)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TATACCCTTCGTGTCTTTGAA	0.358000													16	86					4.14922e-12	5.5493e-12	0.500413	1	0
PZP	5858	broad.mit.edu	37	12	9302192	9302192	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:9302192G>T	ENST00000261336.2	-	35	4419	c.4391C>A	c.(4390-4392)tCt>tAt	p.S1464Y	PZP_ENST00000381997.2_Missense_Mutation_p.S1250Y	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.S1250Y(2)|p.S1464Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGCAACCACAGACTCATCTGA	0.463000													30	71					1.06801e-11	1.39649e-11	0.740014	1	0
TRBV7-8	28590	broad.mit.edu	37	7	142099485	142099485	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:142099485G>T	ENST00000390359.3	-	0	355																											ATACACGGCGGAGTCCTCCTG	0.557000													21	121					6.33239e-15	9.19646e-15	0.592651	1	0
MEGF10	84466	broad.mit.edu	37	5	126774191	126774191	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:126774191C>A	ENST00000274473.6	+	18	2432	c.2165C>A	c.(2164-2166)gCt>gAt	p.A722D	MEGF10_ENST00000503335.2_Missense_Mutation_p.A722D	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	722	EGF-like 13.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.A722D(2)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CATAATGGAGCTTTCTGCAGC	0.532000													38	103					1.03172e-35	1.99275e-35	0.870114	1	0
BAZ2B	29994	broad.mit.edu	37	2	160229615	160229615	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:160229615C>G	ENST00000392783.2	-	27	4649	c.4154G>C	c.(4153-4155)cGg>cCg	p.R1385P	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1351P|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1285P|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1349P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R1385P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AATCCAGTACCGGCGTCTGTA	0.428000													12	85					0	0	0.457914	0	0
TTN	7273	broad.mit.edu	37	2	179433781	179433781	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:179433781A>C	ENST00000589042.1	-	326	77302	c.77078T>G	c.(77077-77079)aTt>aGt	p.I25693S	TTN_ENST00000460472.2_Missense_Mutation_p.I16628S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I23125S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I16753S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I16820S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I24052S|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24052	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I23123S(2)|p.I23125S(2)|p.I16628S(2)|p.I16753S(2)|p.I16820S(2)		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)			TGCAACCTTAATTGGATCAGC	0.443000													48	136					0	0	0.864702	0	0
COL8A2	1296	broad.mit.edu	37	1	36563472	36563472	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:36563472C>A	ENST00000397799.1	-	4	2034	c.1810G>T	c.(1810-1812)Ggc>Tgc	p.G604C	COL8A2_ENST00000481785.1_Missense_Mutation_p.G539C|COL8A2_ENST00000303143.4_Missense_Mutation_p.G604C			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	604	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	p.G604C(2)		NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGTTGTAGCCGCTGTGGCCA	0.622000													19	37					6.33239e-15	9.19646e-15	0.592651	1	0
COL4A1	1282	broad.mit.edu	37	13	110863998	110863998	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:110863998A>T	ENST00000375820.4	-	8	585	c.464T>A	c.(463-465)aTg>aAg	p.M155K	COL4A1_ENST00000543140.1_Missense_Mutation_p.M155K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	155					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.M155K(2)		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)			ATGTACCTTCATCCCTGGTAA	0.313000													14	36					0	0	0.457914	0	0
MYH11	4629	broad.mit.edu	37	16	15829246	15829246	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:15829246G>T	ENST00000338282.6	-	26	3589	c.3483C>A	c.(3481-3483)agC>agA	p.S1161R	MYH11_ENST00000396324.3_Missense_Mutation_p.S1168R|MYH11_ENST00000300036.5_Missense_Mutation_p.S1161R|MYH11_ENST00000576790.1_Missense_Mutation_p.S1161R|MYH11_ENST00000452625.2_Missense_Mutation_p.S1168R	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1161					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.S1168R(2)|p.S1161R(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAGTGGCTGTGCTGTCCAGTG	0.602000			T	CBFB	AML								24	82					1.22384e-17	1.9124e-17	0.769981	1	0
AKAP13	11214	broad.mit.edu	37	15	86266326	86266326	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:86266326C>A	ENST00000394518.2	+	26	6615	c.6520C>A	c.(6520-6522)Cta>Ata	p.L2174I	AKAP13_ENST00000394510.2_Missense_Mutation_p.L419I|AKAP13_ENST00000361243.2_Missense_Mutation_p.L2178I|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2174	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.L2178I(2)|p.L254I(2)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCAGGAAGATCTAGCACAGTC	0.418000													19	48					2.94398e-08	3.3945e-08	0.557998	1	0
DAB1	1600	broad.mit.edu	37	1	57611099	57611099	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:57611099T>A	ENST00000371236.2	-	3	334	c.71A>T	c.(70-72)cAg>cTg	p.Q24L	DAB1_ENST00000371234.4_Missense_Mutation_p.Q24L|DAB1_ENST00000414851.2_Missense_Mutation_p.Q24L|DAB1_ENST00000420954.2_Missense_Mutation_p.Q24L|DAB1_ENST00000371231.1_Missense_Mutation_p.Q24L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Missense_Mutation_p.Q24L|DAB1_ENST00000439789.2_Missense_Mutation_p.Q24L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	24					cell differentiation|nervous system development			p.Q24L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACTGCGATCCTGACCTAAAAA	0.458000													20	71					0	0	0.592651	0	0
SGIP1	84251	broad.mit.edu	37	1	67108500	67108500	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:67108500C>A	ENST00000371037.4	+	6	313	c.236C>A	c.(235-237)cCt>cAt	p.P79H	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_Missense_Mutation_p.P36H|SGIP1_ENST00000371036.3_Missense_Mutation_p.P54H|SGIP1_ENST00000371039.1_Missense_Mutation_p.P55H|SGIP1_ENST00000237247.6_Missense_Mutation_p.P83H	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	79					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.P79H(2)|p.P55H(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAGAACTCACCTGAGCTGGAT	0.328000													17	58					2.4624e-09	2.93712e-09	0.575678	1	0
DPEP3	64180	broad.mit.edu	37	16	68010643	68010643	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:68010643C>T	ENST00000268793.4	-	8	1502	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	352					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.E377K(2)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCGATGAACTCAGATCCAATG	0.562000													7	47					0	0	0.278610	0	0
COL3A1	1281	broad.mit.edu	37	2	189859297	189859297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:189859297G>T	ENST00000304636.3	+	19	1494	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.E442*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	442	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.E442*(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGCCAAAGGAGAGCCCGGACC	0.398000													16	69					3.41278e-10	4.20928e-10	0.520397	1	0
HECW1	23072	broad.mit.edu	37	7	43436451	43436451	+	Silent	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:43436451A>G	ENST00000395891.1	+	7	1199	c.594A>G	c.(592-594)ggA>ggG	p.G198G	HECW1_ENST00000453890.1_Silent_p.G198G|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	198	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.G177G(2)|p.G198G(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCGTCCAAGGACAAGGAAGTC	0.423000													14	118					0	0	0.435327	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128061	117128061	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:117128061G>C	ENST00000310357.3	-	3	828	c.807C>G	c.(805-807)gcC>gcG	p.A269A	GPRC6A_ENST00000530250.1_Silent_p.A269A|GPRC6A_ENST00000368549.3_Silent_p.A269A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	269					response to amino acid stimulus		G-protein coupled receptor activity	p.A269A(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CATTAACCTGGGCTTCTAAAA	0.363000													34	68					0	0	0.760397	0	0
HJURP	55355	broad.mit.edu	37	2	234750371	234750371	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:234750371C>A	ENST00000411486.2	-	8	1120	c.1055G>T	c.(1054-1056)gGt>gTt	p.G352V	HJURP_ENST00000432087.1_Missense_Mutation_p.G298V|HJURP_ENST00000441687.1_Missense_Mutation_p.G267V	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	352					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.G352F(2)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CAATTTTAAACCTGTCTTACG	0.433000													9	78					0.000274275	0.000289491	0.307466	1	0
MYH2	4620	broad.mit.edu	37	17	10432233	10432233	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:10432233C>A	ENST00000245503.5	-	27	3902	c.3518G>T	c.(3517-3519)cGg>cTg	p.R1173L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1173L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1173					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1173L(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCAGCCTCCCGCTTCTTGTT	0.597000													69	128					5.46685e-50	1.10352e-49	0.870114	1	0
PROKR2	128674	broad.mit.edu	37	20	5294629	5294629	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:5294629G>T	ENST00000546004.1	-	2	633	c.387C>A	c.(385-387)gcC>gcA	p.A129A	PROKR2_ENST00000217270.3_Silent_p.A129A			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	129						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A129A(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						AGTTGACGGAGGCACAGAGCA	0.607000										HNSCC(71;0.22)			18	44					9.16793e-09	1.07501e-08	0.520397	1	0
DDX42	11325	broad.mit.edu	37	17	61864590	61864590	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:61864590A>C	ENST00000578681.1	+	3	782	c.181A>C	c.(181-183)Aaa>Caa	p.K61Q	DDX42_ENST00000359353.5_Intron|DDX42_ENST00000457800.2_Missense_Mutation_p.K61Q|DDX42_ENST00000389924.2_Missense_Mutation_p.K61Q|DDX42_ENST00000583590.1_Missense_Mutation_p.K61Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	61					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.K61Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCTTTCTACAAAATTGGATC	0.448000													44	133					0	0	0.870114	0	0
ATP1A4	480	broad.mit.edu	37	1	160146346	160146346	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:160146346T>A	ENST00000368081.4	+	17	3015	c.2544T>A	c.(2542-2544)gaT>gaA	p.D848E	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	848					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.D848E(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAAGACGGATAATCTGGTGA	0.567000													25	70					0	0	0.667858	0	0
STRIP1	85369	broad.mit.edu	37	1	110584388	110584388	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:110584388A>T	ENST00000369795.3	+	8	812	c.790A>T	c.(790-792)Atc>Ttc	p.I264F	STRIP1_ENST00000369796.1_Missense_Mutation_p.I169F	NM_033088.2	NP_149079.2			striatin interacting protein 1									p.I264F(2)									GCCATTTGCCATCATGCTGTT	0.532000													75	258					0	0	0.870114	0	0
NBAS	51594	broad.mit.edu	37	2	15470780	15470780	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:15470780T>A	ENST00000281513.5	-	36	4314	c.4289A>T	c.(4288-4290)cAg>cTg	p.Q1430L	NBAS_ENST00000441750.1_Missense_Mutation_p.Q1310L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1430								p.Q1430L(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTGACGGCCTGCAGCACCGC	0.493000													25	63					0	0	0.681144	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364128	43364128	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:43364128G>A	ENST00000344686.2	-	0	927							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.P274P(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAGGTTTCCAGGGCTGGAGAG	0.622000													9	21					0	0	0.387290	0	0
DYTN	391475	broad.mit.edu	37	2	207528121	207528121	+	Splice_Site	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:207528121T>A	ENST00000452335.2	-	11	1257		c.e11-2			NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin							plasma membrane	zinc ion binding	p.?(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CAACCTTGCCTGGGGAAACAA	0.378000													12	32					0	0	0.411799	0	0
GPR148	344561	broad.mit.edu	37	2	131487640	131487640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:131487640G>T	ENST00000309926.4	+	1	998	c.916G>T	c.(916-918)Gag>Tag	p.E306*		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	306						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E306*(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGCTAACAGTGAGGTACTCAT	0.597000													16	126					2.35188e-11	3.02328e-11	0.539581	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639359	18639359	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:18639359A>C	ENST00000380548.4	+	7	1123	c.784A>C	c.(784-786)Aaa>Caa	p.K262Q	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.K262Q|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.K262Q|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.K262Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	262						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.K262Q(4)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATTTCCAGACAAAGAGATACT	0.443000													4	48					0	0	0.217242	0	0
FGF20	26281	broad.mit.edu	37	8	16850805	16850805	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:16850805T>A	ENST00000180166.5	-	3	560	c.412A>T	c.(412-414)Atc>Ttc	p.I138F		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	138					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	p.I138F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCCTAAAGATGCATTCGGAA	0.328000													16	222					0	0	0.479597	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103128358	103128358	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:103128358C>T	ENST00000375735.2	+	69	10627	c.10483C>T	c.(10483-10485)Ctg>Ttg	p.L3495L	DYNC2H1_ENST00000398093.3_Silent_p.L3502L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3495					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	p.L935L(2)		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)		CTATCTCCCCCTGGCTGAGAG	0.423000													12	68					0	0	0.435327	0	0
OR13F1	138805	broad.mit.edu	37	9	107267441	107267441	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:107267441G>T	ENST00000334726.2	+	1	987	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A300S(2)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGAAAGTGGCCTTGAAAAA	0.358000													9	69					1.12685e-05	1.2233e-05	0.307466	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856858	19856858	+	RNA	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:19856858A>T	ENST00000548109.1	+	0	72																											TGTCATCTACAGCACTCATTT	0.348000													4	62					0	0	0.150653	0	0
DYSF	8291	broad.mit.edu	37	2	71827833	71827833	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:71827833G>T	ENST00000258104.3	+	34	3981	c.3702_splice	c.e34-1	p.G1235_splice	DYSF_ENST00000410020.3_Splice_Site_p.G1253_splice|DYSF_ENST00000409762.1_Splice_Site_p.G1252_splice|DYSF_ENST00000409366.1_Splice_Site_p.G1236_splice|DYSF_ENST00000409582.3_Splice_Site_p.G1252_splice|DYSF_ENST00000409744.1_Splice_Site_p.G1222_splice|DYSF_ENST00000409651.1_Splice_Site_p.G1267_splice|DYSF_ENST00000394120.2_Splice_Site_p.G1236_splice|DYSF_ENST00000410041.1_Splice_Site_p.G1253_splice|DYSF_ENST00000413539.2_Splice_Site_p.G1266_splice|DYSF_ENST00000429174.2_Splice_Site_p.G1235_splice|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1235	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.G1235V(2)|p.G1253V(2)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTGGTCTAGGGTGCAGACGAG	0.577000													106	193					2.68927e-46	5.38562e-46	0.870114	1	0
ACTN2	88	broad.mit.edu	37	1	236907995	236907995	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:236907995G>T	ENST00000366578.4	+	12	1491	c.1325G>T	c.(1324-1326)cGg>cTg	p.R442L	ACTN2_ENST00000542672.1_Missense_Mutation_p.R442L|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	442					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.R442L(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTCTGCTGCGGAAGCACGAG	0.592000													19	76					4.63292e-17	7.06544e-17	0.575678	1	0
BBOX1	8424	broad.mit.edu	37	11	27147256	27147256	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:27147256A>T	ENST00000263182.3	+	8	1260	c.892A>T	c.(892-894)Aca>Tca	p.T298S	BBOX1_ENST00000529202.1_Missense_Mutation_p.T298S|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.T298S|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.T298S	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	298					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.T298S(2)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	aactagggacacaatatttga	0.348000													11	22					0	0	0.361761	0	0
NLRP3	114548	broad.mit.edu	37	1	247587961	247587961	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:247587961T>C	ENST00000366497.2	+	4	1996	c.1216T>C	c.(1216-1218)Ttc>Ctc	p.F406L	NLRP3_ENST00000348069.2_Missense_Mutation_p.F406L|NLRP3_ENST00000366496.2_Missense_Mutation_p.F406L|NLRP3_ENST00000336119.3_Missense_Mutation_p.F406L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.F406L|NLRP3_ENST00000391827.2_Missense_Mutation_p.F406L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	406	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.F406L(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGAGGTCCTCTTCACCATGTG	0.532000													28	132					0	0	0.693898	0	0
ADCY9	115	broad.mit.edu	37	16	4164474	4164474	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:4164474C>T	ENST00000294016.3	-	2	1508	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	324					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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.E324K(2)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTTCCACTTCCAGGTCCTTC	0.522000													55	163					0	0	0.870114	0	0
RFC1	5981	broad.mit.edu	37	4	39314400	39314400	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:39314400C>A	ENST00000381897.1	-	11	1488	c.1355G>T	c.(1354-1356)cGt>cTt	p.R452L	RFC1_ENST00000349703.2_Missense_Mutation_p.R452L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	452	BRCT.				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.R452L(2)|p.R452H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCACTATCACGACCCATGAC	0.453000													103	273					1.47424e-42	2.91402e-42	0.870114	1	0
TOX2	84969	broad.mit.edu	37	20	42635213	42635213	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:42635213C>A	ENST00000358131.5	+	3	427	c.219C>A	c.(217-219)aaC>aaA	p.N73K	TOX2_ENST00000372999.1_Missense_Mutation_p.N22K|TOX2_ENST00000341197.3_Missense_Mutation_p.N64K|TOX2_ENST00000423191.1_Missense_Mutation_p.N22K	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.N73K(2)|p.N22K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGAGAACAACGAAGACTATG	0.557000													8	90					0.0381472	0.0384504	0.278610	1	0
PDE3A	5139	broad.mit.edu	37	12	20801733	20801733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:20801733G>T	ENST00000359062.3	+	13	2717	c.2677G>T	c.(2677-2679)Gaa>Taa	p.E893*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	893	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E893*(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGACCATGTGGAATTTAAGCA	0.403000													33	105					1.74807e-11	2.25471e-11	0.750413	1	0
CPXM2	119587	broad.mit.edu	37	10	125528162	125528162	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:125528162C>A	ENST00000241305.3	-	9	1333	c.1179G>T	c.(1177-1179)gtG>gtT	p.V393V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	393					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.V393V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACACGAACTGCACCAGCAGCA	0.627000													43	120					2.24722e-20	3.68563e-20	0.870114	1	0
ZNF521	25925	broad.mit.edu	37	18	22902056	22902056	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:22902056C>A	ENST00000361524.3	-	3	284	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.V46L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	46					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.V46L(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGCTGTGCACAGCTTCGTCT	0.463000			T	PAX5	ALL								46	96					1.06522e-23	1.82575e-23	0.864702	1	0
IGHD	3495	broad.mit.edu	37	14	106311889	106311889	+	RNA	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:106311889G>A	ENST00000390556.2	-	0	121																											CCATGTACCAGGTGACAGTCA	0.562000													21	79					0	0	0.592651	0	0
CCDC13	152206	broad.mit.edu	37	3	42799619	42799619	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:42799619C>A	ENST00000310232.6	-	2	302	c.219G>T	c.(217-219)aaG>aaT	p.K73N	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	73								p.K73N(2)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCATTTACCTCTTCTCAAAGC	0.488000													20	43					5.03518e-11	6.39695e-11	0.557998	1	0
HNF4G	3174	broad.mit.edu	37	8	76452274	76452274	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:76452274C>A	ENST00000396423.2	+	1	171	c.47C>A	c.(46-48)aCt>aAt	p.T16N	HNF4G_ENST00000354370.1_Intron	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	0					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.T16N(2)		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)			ACTTACACAACTTTGGAGTTT	0.343000													38	102					2.40579e-17	3.71361e-17	0.819951	1	0
RELN	5649	broad.mit.edu	37	7	103275876	103275876	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:103275876G>T	ENST00000428762.1	-	19	2620	c.2461C>A	c.(2461-2463)Ccc>Acc	p.P821T	RELN_ENST00000343529.5_Missense_Mutation_p.P821T|RELN_ENST00000424685.2_Missense_Mutation_p.P821T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	821					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	p.P821T(2)		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)		ACATACCTGGGCTCATGATAG	0.368000													29	90					1.55811e-20	2.5665e-20	0.729181	1	0
SLC8A3	6547	broad.mit.edu	37	14	70515594	70515594	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:70515594C>G	ENST00000381269.2	-	7	3050	c.2297G>C	c.(2296-2298)gGc>gCc	p.G766A	SLC8A3_ENST00000534137.1_Missense_Mutation_p.G763A|SLC8A3_ENST00000216568.7_Missense_Mutation_p.G137A|SLC8A3_ENST00000394330.2_Missense_Mutation_p.G123A|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G760A|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G764A|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G764A|SLC8A3_ENST00000533541.1_Missense_Mutation_p.G123A	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	766					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G766A(2)|p.G764A(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTGAGCATGCCAATGATGAG	0.572000													7	35					0	0	0.278610	0	0
CIZ1	25792	broad.mit.edu	37	9	130941294	130941294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:130941294C>A	ENST00000538431.1	-	8	1439	c.1192G>T	c.(1192-1194)Gag>Tag	p.E398*	CIZ1_ENST00000393608.1_Nonsense_Mutation_p.E398*|CIZ1_ENST00000541172.1_Nonsense_Mutation_p.E297*|CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000372938.5_Nonsense_Mutation_p.E398*|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000357558.5_Nonsense_Mutation_p.E398*|CIZ1_ENST00000325721.8_Nonsense_Mutation_p.E369*|CIZ1_ENST00000277465.4_Nonsense_Mutation_p.E398*	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	398	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						ttcagcggctctgcctcctgc	0.642000													4	56					0.184627	0.185603	0.184627	1	0
KCTD8	386617	broad.mit.edu	37	4	44449622	44449622	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:44449622C>A	ENST00000360029.3	-	1	1202	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	307						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D307Y(2)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATCTTGTCGTCGCGGTACTGG	0.632000										HNSCC(17;0.042)			5	33					0.00116845	0.00121974	0.217242	1	0
ZEB2	9839	broad.mit.edu	37	2	145274897	145274897	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:145274897C>A	ENST00000558170.2	-	2	1205	c.21G>T	c.(19-21)gcG>gcT	p.A7A	ZEB2_ENST00000465070.1_Silent_p.A7A|ZEB2_ENST00000470879.1_Silent_p.A7A|ZEB2_ENST00000303660.4_Silent_p.A7A|ZEB2_ENST00000493689.1_5'UTR|ZEB2_ENST00000462355.1_Silent_p.A7A|ZEB2_ENST00000539609.3_Silent_p.A7A|ZEB2_ENST00000409487.3_Silent_p.A7A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	7						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.A7A(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGGGCCATCCGCCATGATCG	0.587000													12	78					0.00010058	0.000106603	0.411799	1	0
TRBV7-3	28595	broad.mit.edu	37	7	142247121	142247121	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:142247121G>T	ENST00000390361.3	-	0	384																											TAAGCTGCTGGCACAGAGATA	0.537000													21	94					3.8784e-16	5.76458e-16	0.608945	1	0
CHI3L2	1117	broad.mit.edu	37	1	111778693	111778693	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:111778693G>T	ENST00000445067.2	+	9	1424	c.653G>T	c.(652-654)tGg>tTg	p.W218L	CHI3L2_ENST00000524472.1_Missense_Mutation_p.W139L|CHI3L2_ENST00000466741.1_Missense_Mutation_p.W139L|CHI3L2_ENST00000369748.4_Missense_Mutation_p.W218L|CHI3L2_ENST00000369744.2_Missense_Mutation_p.W208L			Q15782	CH3L2_HUMAN	chitinase 3-like 2	218					chitin catabolic process	extracellular space	cation binding|chitinase activity	p.W218L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CATGGGTCTTGGGAAAAGCCC	0.512000													48	165					8.72198e-27	1.56543e-26	0.870114	1	0
CNGA2	1260	broad.mit.edu	37	X	150912077	150912077	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:150912077G>A	ENST00000329903.4	+	6	1135	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	368					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.V368M(2)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCACCATCGTGGGAAATGT	0.507000													81	76					0	0	0.870114	0	0
COL14A1	7373	broad.mit.edu	37	8	121220515	121220515	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:121220515G>A	ENST00000297848.3	+	11	1506	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L	COL14A1_ENST00000309791.4_Silent_p.L412L|COL14A1_ENST00000247781.3_Silent_p.L317L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Silent_p.L412L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	412	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.L412L(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGAAAAACTTGATGTCTTTAA	0.388000													32	62					0	0	0.740014	0	0
ACADL	33	broad.mit.edu	37	2	211085421	211085421	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:211085421C>G	ENST00000233710.3	-	2	410	c.183G>C	c.(181-183)cgG>cgC	p.R61R	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	61					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	p.R61R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TTACACTTTTCCGGAAAATGT	0.383000													36	92					0	0	0.788014	0	0
LCE1E	353135	broad.mit.edu	37	1	152759841	152759841	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:152759841C>T	ENST00000368770.3	+	2	119	c.66C>T	c.(64-66)ccC>ccT	p.P22P	LCE1E_ENST00000368771.1_Silent_p.P22P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	22	Cys-rich.				keratinization			p.P22P(2)		lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgccctcccaagtgTCCCA	0.622000													97	259					0	0	0.870114	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729153	66729153	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:66729153T>A	ENST00000307102.5	+	3	892	c.361T>A	c.(361-363)Tgc>Agc	p.C121S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	121	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C121S(4)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TCTGCATGAGTGCAACTCTCC	0.502000													37	68					0	0	0.788014	0	0
ZAN	7455	broad.mit.edu	37	7	100373326	100373326	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:100373326C>A	ENST00000542585.1	+	0	6208				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.Q2021K(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCGCCATCTCCCAGATCCCTG	0.537000													8	78					7.48243e-07	8.30048e-07	0.335167	1	0
RBM10	8241	broad.mit.edu	37	X	47032551	47032551	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:47032551G>T	ENST00000377604.3	+	5	1199	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Missense_Mutation_p.G76C|RBM10_ENST00000329236.7_Missense_Mutation_p.G76C	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	153	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.G153C(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCAGTCGCACGGCGTGCAAGC	0.607000													11	14					2.27111e-07	2.54914e-07	0.411799	1	0
UNC13C	440279	broad.mit.edu	37	15	54586108	54586108	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:54586108C>A	ENST00000545554.1	+	10	3834	c.3834C>A	c.(3832-3834)tcC>tcA	p.S1278S	UNC13C_ENST00000260323.11_Silent_p.S1278S|UNC13C_ENST00000537900.1_Silent_p.S1276S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1278	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S1278S(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCATAACTCCACAGATCGAA	0.323000													27	46					4.72057e-08	5.41833e-08	0.667858	1	0
LOC643711	643711	broad.mit.edu	37	12	98126388	98126388	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:98126388G>T	ENST00000550548.1	-	0	382					NR_077240.1																						TTCTCTCCTTGGGTGTTCCTC	0.478000													6	14					3.59834e-05	3.85681e-05	0.217242	1	0
HOXC6	3223	broad.mit.edu	37	12	54423739	54423739	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:54423739A>C	ENST00000394331.3	+	3	2165	c.455A>C	c.(454-456)aAa>aCa	p.K152T	HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.K234T	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	234					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.K234T(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAGAAGCAGAAAGAGTGACCA	0.582000													6	12					0	0	0.248553	0	0
GPR32	2854	broad.mit.edu	37	19	51274539	51274539	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:51274539C>T	ENST00000270590.4	+	1	819	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	228						integral to plasma membrane	N-formyl peptide receptor activity	p.P228S(2)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTTCCTGGGGCCCTTAGCAAT	0.597000													22	41					0	0	0.592651	0	0
ATP2A1	487	broad.mit.edu	37	16	28906166	28906166	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:28906166C>A	ENST00000395503.4	+	12	1495	c.1311C>A	c.(1309-1311)gtC>gtA	p.V437V	ATP2A1_ENST00000536376.1_Silent_p.V312V|ATP2A1_ENST00000357084.3_Silent_p.V437V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	437					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.V437V(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATGAGAAGGTCGGCGAGGCCA	0.572000													13	120					5.50884e-06	6.02331e-06	0.411799	1	0
SLC22A16	85413	broad.mit.edu	37	6	110757068	110757068	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:110757068G>T	ENST00000368919.3	-	6	1474	c.1408C>A	c.(1408-1410)Cca>Aca	p.P470T	SLC22A16_ENST00000330550.4_Missense_Mutation_p.P436T|SLC22A16_ENST00000439654.1_Missense_Mutation_p.P470T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	470					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.P470T(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACAATGGTTGGATACAGCTCA	0.373000													21	77					4.54149e-19	7.26065e-19	0.624587	1	0
MAGEC3	139081	broad.mit.edu	37	X	140985421	140985421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:140985421C>A	ENST00000544766.1	+	5	1510	c.983C>A	c.(982-984)tCa>tAa	p.S328*	MAGEC3_ENST00000443323.2_Nonsense_Mutation_p.S248*|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.S328*|MAGEC3_ENST00000298296.1_Missense_Mutation_p.Q579K|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.S328*	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	44	MAGE 1.		A -> T (in dbSNP:rs176026).					p.Q579K(2)|p.S328*(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCCATTCAGAGGCCAGC	0.473000													104	44					3.06722e-38	5.985e-38	0.870114	1	0
PCDH11X	27328	broad.mit.edu	37	X	91131866	91131866	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:91131866G>T	ENST00000373094.1	+	2	1472	c.627G>T	c.(625-627)agG>agT	p.R209S	PCDH11X_ENST00000361724.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R209S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R209S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R209S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R209S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R209S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	209	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.R209S(6)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTTAGATAGGGAAGAGAAGG	0.403000													102	54					2.2063e-47	4.43006e-47	0.870114	1	0
TMC1	117531	broad.mit.edu	37	9	75387409	75387409	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:75387409G>A	ENST00000297784.5	+	13	1362	c.822G>A	c.(820-822)ccG>ccA	p.P274P	TMC1_ENST00000396237.3_Silent_p.P274P|TMC1_ENST00000340019.3_Silent_p.P274P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	274					sensory perception of sound	integral to membrane		p.P274P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGGTTGCCGCTCTCCTATT	0.383000													52	210					0	0	0.870114	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206927	142206927	+	RNA	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:142206927A>G	ENST00000426318.2	-	0	84																											CACAGCAGACAAAGGGCCACA	0.552000													23	81					0	0	0.654019	0	0
BBS2	583	broad.mit.edu	37	16	56536304	56536304	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:56536304C>A	ENST00000245157.5	-	9	1425	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.Q335H	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	335					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.Q335H(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GGATCAGGTCCTGCTCTGCAC	0.522000									Bardet-Biedl syndrome				56	224					3.19069e-20	5.21054e-20	0.870114	1	0
SELP	6403	broad.mit.edu	37	1	169566297	169566297	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:169566297A>T	ENST00000263686.6	-	11	1860	c.1823T>A	c.(1822-1824)cTg>cAg	p.L608Q	SELP_ENST00000458599.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.L546Q|SELP_ENST00000367788.2_Missense_Mutation_p.L546Q|SELP_ENST00000367792.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.L546Q|SELP_ENST00000367794.2_Missense_Mutation_p.L546Q	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	608	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.L608Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGGCCCCTCCAGCTTAAAGCC	0.483000													15	138					0	0	0.479597	0	0
KIF2B	84643	broad.mit.edu	37	17	51901354	51901354	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:51901354G>T	ENST00000268919.4	+	1	1116	c.960G>T	c.(958-960)acG>acT	p.T320T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	320	Kinesin-motor.			T -> K (in Ref. 2; BAB71406).	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T320T(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTCAGGAACGGCCCAAGATT	0.522000													41	129					3.61848e-18	5.68938e-18	0.834066	1	0
ATP8A2	51761	broad.mit.edu	37	13	26043257	26043257	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:26043257C>A	ENST00000381655.2	+	2	361	c.219C>A	c.(217-219)atC>atA	p.I73I	ATP8A2_ENST00000255283.8_Silent_p.I33I	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	33					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	p.I73I(1)		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)		ACAACCAGATCAGGTAGGAGA	0.667000													9	27					2.74318e-10	3.40548e-10	0.335167	1	0
C1orf56	54964	broad.mit.edu	37	1	151020974	151020974	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:151020974C>A	ENST00000368926.5	+	1	759	c.651C>A	c.(649-651)acC>acA	p.T217T		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	217						extracellular region		p.T217T(2)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTCGGGCACCATGAGCCGGA	0.677000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	171					4.6707e-30	8.71177e-30	0.870114	1	0
BAZ2B	29994	broad.mit.edu	37	2	160294973	160294973	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:160294973C>A	ENST00000392783.2	-	8	1629	c.1134G>T	c.(1132-1134)acG>acT	p.T378T	BAZ2B_ENST00000355831.2_Silent_p.T378T|BAZ2B_ENST00000343439.5_Silent_p.T376T|BAZ2B_ENST00000392782.1_Silent_p.T376T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.T378T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACACCAATCCCGTAGACTGTA	0.408000													18	142					7.05477e-17	1.06946e-16	0.520397	1	0
NLRP4	147945	broad.mit.edu	37	19	56369712	56369712	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:56369712C>A	ENST00000301295.6	+	3	1375	c.953C>A	c.(952-954)cCg>cAg	p.P318Q	NLRP4_ENST00000587891.1_Missense_Mutation_p.P243Q|NLRP4_ENST00000346986.5_Missense_Mutation_p.P318Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	318	NACHT.						ATP binding	p.P318Q(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCAAAGACCCGAAAAGAGCC	0.483000													37	58					6.90743e-12	9.14183e-12	0.788014	1	0
LPHN2	23266	broad.mit.edu	37	1	82447508	82447508	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:82447508G>T	ENST00000370728.1	+	21	3763	c.3118G>T	c.(3118-3120)Gct>Tct	p.A1040S	LPHN2_ENST00000370730.1_Missense_Mutation_p.A1040S|LPHN2_ENST00000319517.6_Missense_Mutation_p.A1027S|LPHN2_ENST00000370723.1_Missense_Mutation_p.A1042S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.A1027S|LPHN2_ENST00000370717.2_Missense_Mutation_p.A1055S|LPHN2_ENST00000370721.1_Missense_Mutation_p.A965S|LPHN2_ENST00000370713.1_Missense_Mutation_p.A1027S|LPHN2_ENST00000335786.5_Missense_Mutation_p.A1040S|LPHN2_ENST00000271029.4_Missense_Mutation_p.A1055S|LPHN2_ENST00000370725.1_Missense_Mutation_p.A1055S|LPHN2_ENST00000359929.3_Missense_Mutation_p.A1027S|LPHN2_ENST00000394879.1_Missense_Mutation_p.A1042S|LPHN2_ENST00000370727.1_Missense_Mutation_p.A1055S			O95490	LPHN2_HUMAN	latrophilin 2	1040					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.A1027S(1)|p.A1055S(1)|p.A1027T(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGTGCTTGGCGCTTTCGCTCT	0.383000													110	366					1.38406e-41	2.72867e-41	0.870114	1	0
BCLAF1	9774	broad.mit.edu	37	6	136590641	136590641	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:136590641C>A	ENST00000531224.1	-	9	2405	c.2153G>T	c.(2152-2154)aGt>aTt	p.S718I	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S716I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S716I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S545I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S718I|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S716I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	718					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S718I(2)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTGATCCACTGGATTCCCT	0.403000													19	126					8.28177e-16	1.2214e-15	0.557998	1	0
NCAPG2	54892	broad.mit.edu	37	7	158494630	158494630	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:158494630C>A	ENST00000409339.3	-	2	75		c.e2-1		NCAPG2_ENST00000449727.2_Splice_Site|NCAPG2_ENST00000356309.3_Splice_Site|NCAPG2_ENST00000409423.1_Splice_Site			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2						cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TTTTGTAACCCTAATGGAAAA	0.358000													18	60					1.02788e-11	1.34633e-11	0.520397	1	0
CXCL6	6372	broad.mit.edu	37	4	74702735	74702735	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:74702735C>T	ENST00000226317.5	+	2	418	c.164C>T	c.(163-165)aCg>aTg	p.T55M	CXCL6_ENST00000515050.1_Missense_Mutation_p.T55M	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	55					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	p.T55M(2)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTACGCGTTACGCTGAGAGTA	0.527000													37	94					0	0	0.796494	0	0
FABP6	2172	broad.mit.edu	37	5	159656578	159656578	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:159656578G>A	ENST00000393980.4	+	4	307	c.161G>A	c.(160-162)gGc>gAc	p.G54D	FABP6_ENST00000402432.3_Missense_Mutation_p.G5D|FABP6_ENST00000393982.1_Missense_Mutation_p.G54D	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	5					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	p.G54D(1)|p.G5D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTCACCGGCAAGTTCGAG	0.537000													5	247					0	0	0.217242	0	0
TIAM1	7074	broad.mit.edu	37	21	32525054	32525054	+	Missense_Mutation	SNP	G	G	A	rs148623159		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:32525054G>A	ENST00000286827.3	-	20	3737	c.3266C>T	c.(3265-3267)aCg>aTg	p.T1089M	TIAM1_ENST00000541036.1_Missense_Mutation_p.T1029M	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1089	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.T1089M(6)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TACCATTTCCGTTAAATTTCC	0.333000													7	56					0	0	0.248553	0	0
NUP210L	91181	broad.mit.edu	37	1	153995618	153995618	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:153995618C>T	ENST00000368559.3	-	31	4349	c.4278G>A	c.(4276-4278)caG>caA	p.Q1426Q	NUP210L_ENST00000271854.3_Silent_p.Q1426Q|NUP210L_ENST00000368553.1_Silent_p.Q359Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1426						integral to membrane		p.Q1426Q(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCAGATAAAGCTGGGTATTGT	0.408000													41	136					0	0	0.840704	0	0
MUC17	140453	broad.mit.edu	37	7	100683947	100683947	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:100683947A>G	ENST00000306151.4	+	3	9314	c.9250A>G	c.(9250-9252)Agt>Ggt	p.S3084G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3084	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3084G(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACTGAAGTCAGTTCATCTCC	0.507000													98	422					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179567349	179567349	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:179567349C>A	ENST00000589042.1	-	107	30489	c.30265G>T	c.(30265-30267)Gtg>Ttg	p.V10089L	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V8845L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V9772L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9772	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V8845L(2)		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)			TGCTCACTCACCACGATGTTC	0.403000													39	96					8.73648e-17	1.32176e-16	0.796494	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121652315	121652315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:121652315C>A	ENST00000393386.2	+	12	3626	c.3215C>A	c.(3214-3216)cCc>cAc	p.P1072H	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1072					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P1072H(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACAGTCATGCCCAACATGTAT	0.388000													29	105					4.43304e-23	7.56399e-23	0.706142	1	0
TIGD4	201798	broad.mit.edu	37	4	153692094	153692094	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:153692094T>C	ENST00000304337.2	-	2	883	c.63A>G	c.(61-63)ctA>ctG	p.L21L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	21	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.L21L(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CCTCAATGGATAGGCTTTTCT	0.388000													36	107					0	0	0.804634	0	0
AGMO	392636	broad.mit.edu	37	7	15430314	15430314	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:15430314A>T	ENST00000342526.3	-	8	973	c.804T>A	c.(802-804)ttT>ttA	p.F268L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	268					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.F268L(2)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TGATTGGTTCAAATGTATTAA	0.289000													21	122					0	0	0.608945	0	0
DAB1	1600	broad.mit.edu	37	1	57611039	57611039	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:57611039G>T	ENST00000371236.2	-	3	394	c.131C>A	c.(130-132)gCc>gAc	p.A44D	DAB1_ENST00000371234.4_Missense_Mutation_p.A44D|DAB1_ENST00000414851.2_Missense_Mutation_p.A44D|DAB1_ENST00000420954.2_Missense_Mutation_p.A44D|DAB1_ENST00000371231.1_Missense_Mutation_p.A44D|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Missense_Mutation_p.A44D|DAB1_ENST00000439789.2_Missense_Mutation_p.A44D			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	44	PID.				cell differentiation|nervous system development			p.A44D(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GATCAATTTGGCTTTGTACCG	0.418000													30	96					1.88708e-17	2.93076e-17	0.729181	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735298	55735298	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:55735298G>A	ENST00000312345.2	-	1	692	c.642C>T	c.(640-642)tcC>tcT	p.S214S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S214S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCAAAATGTTGGAGATAATTT	0.393000													20	49					0	0	0.557998	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605833	58605833	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:58605833G>T	ENST00000287275.1	-	3	477	c.87C>A	c.(85-87)ggC>ggA	p.G29G	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.G29G	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	29						mitochondrion	glycine N-acyltransferase activity	p.G29G(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGAAAATGGCGCCATATACCT	0.418000													13	41					2.27111e-07	2.54914e-07	0.411799	1	0
LRRC8D	55144	broad.mit.edu	37	1	90399760	90399760	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:90399760T>G	ENST00000337338.5	+	3	1540	c.1133T>G	c.(1132-1134)tTt>tGt	p.F378C	LRRC8D_ENST00000394593.3_Missense_Mutation_p.F378C	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	378						integral to membrane	protein binding	p.F378C(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTTTATGGCTTTATCTGCCTC	0.368000													19	164					0	0	0.539581	0	0
KCNG1	3755	broad.mit.edu	37	20	49626742	49626742	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:49626742C>A	ENST00000371571.4	-	2	419	c.134G>T	c.(133-135)cGg>cTg	p.R45L	KCNG1_ENST00000396017.3_Missense_Mutation_p.R45L	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	45						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R45L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGGCCGCAGCCGCTGCGCCCG	0.706000													16	21					5.03518e-11	6.39695e-11	0.557998	1	0
HPS3	84343	broad.mit.edu	37	3	148863150	148863150	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:148863150C>G	ENST00000296051.2	+	5	1120	c.980C>G	c.(979-981)aCa>aGa	p.T327R	HPS3_ENST00000460120.1_Missense_Mutation_p.T162R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	327						cytoplasm		p.T327R(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGTTCTCTTACATCTGATGGA	0.343000									Hermansky-Pudlak syndrome				27	87					0	0	0.667858	0	0
SVILP1	645954	broad.mit.edu	37	10	30986327	30986327	+	RNA	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:30986327G>C	ENST00000435645.1	+	0	317																											TGCAGACCAGGCTGGTGGAAC	0.587000													5	21					0	0	0.184627	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030031	95030031	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:95030031C>A	ENST00000557004.1	+	2	633	c.212C>A	c.(211-213)cCg>cAg	p.P71Q	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.P71Q|SERPINA4_ENST00000298841.5_Missense_Mutation_p.P71Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	71					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.P71Q(3)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCGGAGACCCCGGGGAAGAAC	0.607000													52	102					9.57592e-29	1.74755e-28	0.870114	1	0
JAM2	58494	broad.mit.edu	37	21	27062220	27062220	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:27062220C>A	ENST00000480456.1	+	3	726	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	JAM2_ENST00000312957.5_Missense_Mutation_p.S59Y|JAM2_ENST00000425221.2_Intron|JAM2_ENST00000400532.1_Missense_Mutation_p.S59Y	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	59	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.S59Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACTGTTTCCTCCAGATTAGAG	0.403000													43	170					5.48756e-27	9.87242e-27	0.859065	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													5	90					0	0	0.248553	0	0
HOXA5	3202	broad.mit.edu	37	7	27181480	27181480	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:27181480C>A	ENST00000222726.3	-	2	847	c.787G>T	c.(787-789)Gcg>Tcg	p.A263S	HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'UTR|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	263					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A263S(2)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CCTCCTGCCGCGGCCATGCTC	0.468000											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	144					1.67942e-08	1.96319e-08	0.539581	1	0
FILIP1	27145	broad.mit.edu	37	6	76023009	76023009	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:76023009C>A	ENST00000393004.2	-	5	2760	c.2539G>T	c.(2539-2541)Gtg>Ttg	p.V847L	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.V847L|FILIP1_ENST00000370020.1_Missense_Mutation_p.V748L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	847								p.V847L(2)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GATCTTTCCACGGGTTTCTTC	0.453000													82	253					1.10181e-30	2.07544e-30	0.870114	1	0
SLC16A1	6566	broad.mit.edu	37	1	113456702	113456702	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:113456702G>A	ENST00000538576.1	-	5	2145	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	SLC16A1_ENST00000369626.3_Silent_p.F438F	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	438					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.F438F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CCATGCCAATGAAGAGATAGA	0.398000													42	163					0	0	0.834066	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21355423	21355423	+	Splice_Site	SNP	A	A	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:21355423A>C	ENST00000256958.2	+	10	1231		c.e10-1			NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.?(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTTTTTTCTAGGAGTCATAA	0.269000													13	25					0	0	0.411799	0	0
FGF14	2259	broad.mit.edu	37	13	102378993	102378993	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:102378993T>G	ENST00000376131.4	-	4	686	c.591A>C	c.(589-591)ccA>ccC	p.P197P	FGF14_ENST00000376143.4_Silent_p.P192P	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	192					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.P192P(2)|p.P197P(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATGAGCTGCTGGTTTGGTTT	0.363000													27	44					0	0	0.681144	0	0
ADRA1A	148	broad.mit.edu	37	8	26721658	26721658	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:26721658C>G	ENST00000380573.3	-	2	1852	c.829G>C	c.(829-831)Gtg>Ctg	p.V277L	ADRA1A_ENST00000276393.4_Missense_Mutation_p.V277L|ADRA1A_ENST00000519229.1_Missense_Mutation_p.V277L|ADRA1A_ENST00000380581.2_Missense_Mutation_p.V277L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.V277L|ADRA1A_ENST00000380572.3_Missense_Mutation_p.V277L|ADRA1A_ENST00000358857.5_Missense_Mutation_p.V277L|ADRA1A_ENST00000380582.3_Missense_Mutation_p.V277L|ADRA1A_ENST00000380587.1_Missense_Mutation_p.V277L|ADRA1A_ENST00000380586.1_Missense_Mutation_p.V277L			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	277					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.V277L(10)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CAGCCGACCACGATGCCCAGC	0.572000													14	31					0	0	0.500413	0	0
VAX1	11023	broad.mit.edu	37	10	118896117	118896117	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:118896117G>A	ENST00000277905.2	-	2	539	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	VAX1_ENST00000369206.5_Missense_Mutation_p.R99W	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	99						nucleus	sequence-specific DNA binding	p.R99W(4)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CTCTTAGGCCGGTCCAAGTCC	0.657000													9	58					0	0	0.387290	0	0
FAM21EP	100421577	broad.mit.edu	37	10	51821252	51821252	+	RNA	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:51821252C>T	ENST00000456967.1	-	0	1382					NR_038275.1																						TCATCCTCATCATCAAAGAGC	0.557000													61	124					0	0	0.870114	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:22473333A>G	ENST00000557788.2	-	0	20																											CCAGGAGGAGAAAGAACCACA	0.512000													3	36					0	0	0.457914	0	0
TRMT1L	81627	broad.mit.edu	37	1	185106753	185106753	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:185106753C>G	ENST00000367504.3	-	10	1769	c.1030G>C	c.(1030-1032)Ggt>Cgt	p.G344R	TRMT1L_ENST00000367506.5_Missense_Mutation_p.G500R			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	500						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	p.G500R(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCATATTACCATCCTTCTGA	0.348000													11	170					0	0	0.361761	0	0
SNORD115-42	100033816	broad.mit.edu	37	15	25492500	25492500	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:25492500G>T	ENST00000364273.1	+	0	9					NR_003357.1																						TTGGGTCGATGATGAGAACCT	0.512000													77	218					9.35569e-46	1.86379e-45	0.870114	1	0
MYH6	4624	broad.mit.edu	37	14	23866764	23866764	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:23866764C>A	ENST00000405093.3	-	16	2020	c.1950G>T	c.(1948-1950)tcG>tcT	p.S650S	MYH6_ENST00000356287.3_Silent_p.S650S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	650	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.S650S(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTGGAGAGCCGACACCGTCT	0.542000													39	142					2.58029e-29	4.76601e-29	0.847076	1	0
USO1	8615	broad.mit.edu	37	4	76714849	76714849	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:76714849G>T	ENST00000538159.1	+	13	1253	c.1253G>T	c.(1252-1254)gGt>gTt	p.G418V	USO1_ENST00000514213.2_Missense_Mutation_p.G401V			O60763	USO1_HUMAN	USO1 vesicle transport factor	416	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	p.G418V(2)|p.G344V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTAGCAACAGGTAATTCAGTT	0.368000													10	24					0.010729	0.0109448	0.387290	1	0
MYO3B	140469	broad.mit.edu	37	2	171509600	171509600	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:171509600C>A	ENST00000334231.6	+	35	4022	c.4022C>A	c.(4021-4023)tCc>tAc	p.S1341Y	MYO3B_ENST00000408978.4_Missense_Mutation_p.S1332Y|MYO3B_ENST00000409044.3_Missense_Mutation_p.S1305Y|AC007277.3_ENST00000428156.1_RNA|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1332					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.S1332Y(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTTTCTTCATCCTCAAAAGGA	0.418000													18	150					1.56452e-12	2.12988e-12	0.557998	1	0
DRD5	1816	broad.mit.edu	37	4	9784629	9784629	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:9784629C>A	ENST00000304374.2	+	1	1372	c.976C>A	c.(976-978)Ccc>Acc	p.P326T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	326					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.P326T(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGTGGACACCCCGAAGGCCC	0.587000													65	209					8.83742e-36	1.71127e-35	0.870114	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138768597	138768597	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:138768597G>A	ENST00000242351.5	-	3	942	c.626C>T	c.(625-627)cCc>cTc	p.P209L	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P209L|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P209L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	209					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.P209L(2)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GACCACGTCGGGGTTCAGCCC	0.547000													32	88					0	0	0.729181	0	0
MMRN1	22915	broad.mit.edu	37	4	90857151	90857151	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:90857151A>T	ENST00000394980.1	+	7	2639	c.2320A>T	c.(2320-2322)Aca>Tca	p.T774S	MMRN1_ENST00000264790.2_Missense_Mutation_p.T774S|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.T516S			Q13201	MMRN1_HUMAN	multimerin 1	774					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.T774S(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AACTATTTTGACATTTATTCC	0.353000													25	74					0	0	0.654019	0	0
MYH7	4625	broad.mit.edu	37	14	23886823	23886823	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:23886823C>A	ENST00000355349.3	-	31	4404	c.4242G>T	c.(4240-4242)ctG>ctT	p.L1414L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1414			L -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1415*(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGTCTTCTCCAGCGAGGAGC	0.612000													27	109					5.60225e-13	7.75148e-13	0.740014	1	0
LY9	4063	broad.mit.edu	37	1	160784485	160784485	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:160784485C>A	ENST00000368040.1	+	0	1056				LY9_ENST00000263285.5_Missense_Mutation_p.H336N|LY9_ENST00000368041.2_Missense_Mutation_p.H296N|LY9_ENST00000368035.1_De_novo_Start_OutOfFrame|LY9_ENST00000341032.4_Missense_Mutation_p.H336N			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.H336N(2)		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)			CGGCCCCTACCATGCCTACGT	0.572000													29	69					9.80776e-20	1.58802e-19	0.706142	1	0
FMNL3	91010	broad.mit.edu	37	12	50045837	50045837	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:50045837C>G	ENST00000335154.5	-	14	1715	c.1482G>C	c.(1480-1482)ctG>ctC	p.L494L	FMNL3_ENST00000550488.1_Silent_p.L494L|FMNL3_ENST00000293590.5_Silent_p.L494L|FMNL3_ENST00000352151.5_Silent_p.L443L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	494					actin cytoskeleton organization		actin binding|Rho GTPase binding	p.L494L(4)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGCCCTCACTCAGCTCTGCAG	0.652000													10	18					0	0	0.361761	0	0
LDLRAD4	753	broad.mit.edu	37	18	13645329	13645329	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:13645329G>T	ENST00000361205.4	+	7	1262	c.594G>T	c.(592-594)atG>atT	p.M198I	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.M161I|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.M180I|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.M121I|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.M100I|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.M198I|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.M143I|RP11-701H16.4_ENST00000588397.1_RNA	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4									p.M161I(2)|p.M198I(2)									AACAGCAGATGGAACTCAACC	0.567000													37	121					7.61165e-28	1.38576e-27	0.788014	1	0
VPS13C	54832	broad.mit.edu	37	15	62304305	62304305	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:62304305C>A	ENST00000261517.5	-	12	957		c.e12+1		VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization			p.?(4)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTATTACTTACTGTATTGATA	0.244000													7	29					8.12818e-05	8.62699e-05	0.248553	1	0
DHX30	22907	broad.mit.edu	37	3	47882439	47882439	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:47882439G>T	ENST00000446256.2	+	8	894	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	DHX30_ENST00000348968.4_Missense_Mutation_p.G119C|DHX30_ENST00000445061.1_Missense_Mutation_p.G147C|DHX30_ENST00000457607.1_Missense_Mutation_p.G175C	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	147	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.G147C(2)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGATCGCTTTGGCTCCCCTGC	0.602000													30	44					1.88708e-17	2.93076e-17	0.729181	1	0
OR5D16	390144	broad.mit.edu	37	11	55607101	55607101	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:55607101T>A	ENST00000378396.1	+	1	874	c.874T>A	c.(874-876)Tac>Aac	p.Y292N		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y292N(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCCCCTGATCTACAGTCTGAG	0.378000													27	90					0	0	0.681144	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192299	132192299	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:132192299C>A	ENST00000359827.3	-	2	2116	c.1154G>T	c.(1153-1155)tGg>tTg	p.W385L	PLXNA4_ENST00000378539.5_Missense_Mutation_p.W385L|PLXNA4_ENST00000321063.4_Missense_Mutation_p.W385L|PLXNA4_ENST00000423507.2_Missense_Mutation_p.W385L			Q9HCM2	PLXA4_HUMAN	plexin A4	385	Sema.					integral to membrane|intracellular|plasma membrane		p.W385L(8)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACCTTGAGCCAGGCCAGGTC	0.602000													23	96					1.96895e-08	2.28062e-08	0.639603	1	0
TIGD2	166815	broad.mit.edu	37	4	90034726	90034726	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:90034726G>T	ENST00000317005.2	+	1	759	c.601G>T	c.(601-603)Ggg>Tgg	p.G201W		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	201	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.G201W(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAGTACTTCTGGGTGTAGGTC	0.408000													38	82					1.07637e-12	1.47588e-12	0.804634	1	0
CES5A	221223	broad.mit.edu	37	16	55880525	55880525	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:55880525G>T	ENST00000521992.1	-	14	1798	c.1653C>A	c.(1651-1653)gaC>gaA	p.D551E	CES5A_ENST00000520435.1_Missense_Mutation_p.D492E|CES5A_ENST00000290567.9_Missense_Mutation_p.D522E|CES5A_ENST00000319165.9_Missense_Mutation_p.D472E|CES5A_ENST00000518005.1_Missense_Mutation_p.D416E|CES5A_ENST00000541580.1_5'UTR	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	522						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.D551E(2)|p.D472E(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCATGTTCAAGTCCAGCTGGA	0.537000													238	454					5.8372e-104	1.20057e-103	0.870114	1	0
ASIC1	41	broad.mit.edu	37	12	50472204	50472204	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:50472204C>A	ENST00000228468.4	+	6	1223	c.837_splice	c.e6-1	p.L280_splice	ASIC1_ENST00000552438.1_Splice_Site_p.L314_splice|ASIC1_ENST00000447966.2_Splice_Site_p.L280_splice	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	280					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.L280I(2)								Amiloride(DB00594)	CTCCCAGCAGCTCATCTACCT	0.582000													55	92					1.39843e-22	2.37546e-22	0.870114	1	0
ROCK1	6093	broad.mit.edu	37	18	18622649	18622649	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:18622649T>C	ENST00000399799.1	-	7	1637	c.697A>G	c.(697-699)Aca>Gca	p.T233A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	233	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.T233A(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CCAACCGCTGTATCACATCGT	0.378000													35	96					0	0	0.788014	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746032	37746032	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:37746032A>T	ENST00000539465.1	+	16	4596	c.4003A>T	c.(4003-4005)Agc>Tgc	p.S1335C	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1335C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1335						cytoskeleton|cytosol|plasma membrane		p.S1335C(2)		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)		GGACCAGTGCAGCTGTCAGTT	0.577000													37	233					0	0	0.796494	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378101	138378101	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:138378101T>G	ENST00000356818.2	+	4	2294	c.1745T>G	c.(1744-1746)cTc>cGc	p.L582R	PPP1R26_ENST00000604351.1_Missense_Mutation_p.L582R|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.L582R|PPP1R26_ENST00000605660.1_Missense_Mutation_p.L582R|PPP1R26_ENST00000605286.1_Missense_Mutation_p.L582R	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	582						nucleolus	protein binding	p.L582R(2)									AAGACCCCTCTCTCTAAAACA	0.612000													57	109					0	0	0.870114	0	0
ZNF485	220992	broad.mit.edu	37	10	44104090	44104090	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:44104090T>G	ENST00000361807.3	+	3	247	c.53T>G	c.(52-54)gTg>gGg	p.V18G	ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Missense_Mutation_p.V18G	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V18G(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GATGTGGCTGTGGCCTTTACC	0.562000													9	27					0	0	0.575678	0	0
ZP4	57829	broad.mit.edu	37	1	238053457	238053457	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:238053457G>T	ENST00000366570.4	-	2	353	c.195C>A	c.(193-195)caC>caA	p.H65Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	65					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.H65Q(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTGCAGCTCGTGCAGCAGCC	0.552000													47	135					8.86878e-18	1.39158e-17	0.870114	1	0
C1orf52	148423	broad.mit.edu	37	1	85725280	85725280	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:85725280C>A	ENST00000471115.1	-	1	45	c.37G>T	c.(37-39)Gcg>Tcg	p.A13S	C1orf52_ENST00000344356.5_Missense_Mutation_p.A13S|C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	13								p.A13S(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCGTATGCCGCAAAATAGCTC	0.652000											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	16					8.12818e-05	8.62699e-05	0.248553	1	0
OR5H1	26341	broad.mit.edu	37	3	97851886	97851886	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:97851886G>T	ENST00000354565.2	+	1	345	c.345G>T	c.(343-345)ttG>ttT	p.L115F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L115F(2)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTTTTCTCTTGGCAACGATGG	0.383000													67	218					2.3441e-25	4.13889e-25	0.870114	1	0
IGFLR1	79713	broad.mit.edu	37	19	36230498	36230498	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:36230498A>G	ENST00000592537.1	-	5	851	c.751T>C	c.(751-753)Tct>Cct	p.S251P	IGFLR1_ENST00000344990.3_Missense_Mutation_p.S63P|IGFLR1_ENST00000246532.1_Missense_Mutation_p.S251P|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Missense_Mutation_p.S83P|IGFLR1_ENST00000592889.1_Missense_Mutation_p.S63P			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	251						integral to membrane|plasma membrane	protein binding|receptor activity	p.S251P(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AGGAGGCGAGACAGGGGTTGT	0.627000													38	90					0	0	0.827153	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873373	91873373	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:91873373C>A	ENST00000373094.1	+	7	4323	c.3478C>A	c.(3478-3480)Cat>Aat	p.H1160N	PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1152N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1142N|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1150N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1123N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1123N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1160					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.H1160N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCTCTGGATCATTCCAGCTC	0.542000													71	59					2.10328e-26	3.74848e-26	0.870114	1	0
KMT2D	8085	broad.mit.edu	37	12	49432243	49432243	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:49432243G>A	ENST00000301067.7	-	34	8895	c.8896C>T	c.(8896-8898)Cgg>Tgg	p.R2966W		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R2696W(2)|p.R2966W(2)									GACGGGGGCCGGTTGACCAGC	0.602000													52	90					0	0	0.870114	0	0
LINGO1	84894	broad.mit.edu	37	15	77907260	77907260	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:77907260G>T	ENST00000355300.6	-	2	1163	c.989C>A	c.(988-990)gCc>gAc	p.A330D	LINGO1_ENST00000561030.1_Missense_Mutation_p.A324D	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	330					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		p.A324D(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCCGCGGAAGGCATAGGGCTC	0.617000													11	17					1.08611e-07	1.23547e-07	0.387290	1	0
SUCO	51430	broad.mit.edu	37	1	172558355	172558355	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:172558355G>T	ENST00000367723.3	+	17	2694	c.2570G>T	c.(2569-2571)aGt>aTt	p.S857I	SUCO_ENST00000263688.3_Missense_Mutation_p.S705I	NM_016227.2	NP_057311.2			SUN domain containing ossification factor									p.S705I(2)|p.S857I(2)									TTAAGTAGTAGTATGCACCAG	0.388000													75	166					1.15074e-40	2.25119e-40	0.870114	1	0
CDH7	1005	broad.mit.edu	37	18	63511299	63511299	+	Silent	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:63511299G>C	ENST00000536984.2	+	7	1927	c.1233G>C	c.(1231-1233)gtG>gtC	p.V411V	CDH7_ENST00000323011.3_Silent_p.V411V|CDH7_ENST00000397968.2_Silent_p.V411V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	411	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V411V(4)		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)				ATAGCCCTGTGAGGTAAAAAC	0.418000													39	78					0	0	0.819951	0	0
DGKI	9162	broad.mit.edu	37	7	137172361	137172361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:137172361G>A	ENST00000453654.1	-	23	2016	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	DGKI_ENST00000446122.1_Nonsense_Mutation_p.Q775*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.Q796*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.Q793*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	793	DAGKc.				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	p.Q793*(4)|p.Q793E(2)		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						CTCACCTCCTGTAGGCGGTCT	0.388000													41	192					0	0	0.870114	0	0
SSU72	29101	broad.mit.edu	37	1	1500240	1500240	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:1500240C>T	ENST00000359060.4	-	2	163	c.137G>A	c.(136-138)gGa>gAa	p.G46E	SSU72_ENST00000291386.3_Missense_Mutation_p.G46E			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	46					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	p.G46E(2)		large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGGAGCTGGTCCTGGAAGCTT	0.458000													26	94					0	0	0.667858	0	0
TRADD	8717	broad.mit.edu	37	16	67190465	67190465	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:67190465C>A	ENST00000345057.4	-	2	567	c.99G>T	c.(97-99)gcG>gcT	p.A33A	TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	33					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	p.A33A(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCTGGGGGTGCGCGTAGGCAT	0.632000											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	178					3.77016e-25	6.61081e-25	0.864702	1	0
KIAA1210	57481	broad.mit.edu	37	X	118284406	118284406	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:118284406C>A	ENST00000402510.2	-	1	136	c.137G>T	c.(136-138)tGt>tTt	p.C46F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	46								p.C46F(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACAACTGCAACAGCCTTGGGA	0.572000													24	27					2.27525e-19	3.66061e-19	0.667858	1	0
GPR31	2853	broad.mit.edu	37	6	167571250	167571250	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:167571250C>G	ENST00000366834.1	-	1	567	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	24						integral to plasma membrane	G-protein coupled receptor activity	p.E24Q(2)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGCCCACACTCCAGCCCCAGC	0.657000													9	27					0	0	0.361761	0	0
FGF13	2258	broad.mit.edu	37	X	137715045	137715045	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:137715045C>G	ENST00000315930.6	-	5	1365	c.704G>C	c.(703-705)gGa>gCa	p.G235A	FGF13_ENST00000441825.2_Missense_Mutation_p.G216A|FGF13_ENST00000370603.3_Missense_Mutation_p.G245A|FGF13_ENST00000305414.4_Missense_Mutation_p.G182A|FGF13_ENST00000541469.1_Missense_Mutation_p.G189A	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	235					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.G182A(2)|p.G235A(2)|p.G245A(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGATTTGCCTCCGTTCAGCAC	0.527000													150	92					0	0	0.870114	0	0
THBS2	7058	broad.mit.edu	37	6	169648571	169648571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:169648571G>A	ENST00000366787.3	-	4	799	c.550C>T	c.(550-552)Cag>Tag	p.Q184*		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	184	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.Q184*(2)		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)		TTTTCCGCCTGCAGGTGCTCG	0.617000													66	229					0	0	0.870114	0	0
SLC9A8	23315	broad.mit.edu	37	20	48504417	48504417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:48504417G>T	ENST00000417961.1	+	16	1948	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*	SLC9A8_ENST00000541138.1_Nonsense_Mutation_p.E264*|SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000539601.1_Nonsense_Mutation_p.E345*|SLC9A8_ENST00000361573.2_Nonsense_Mutation_p.E564*	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	564						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	p.E564*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CAAGTGGTACGAGGAGGTACG	0.657000													41	91					4.67007e-22	7.86265e-22	0.840704	1	0
ZNF208	7757	broad.mit.edu	37	19	22154978	22154978	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:22154978G>T	ENST00000397126.4	-	4	3006	c.2858C>A	c.(2857-2859)gCc>gAc	p.A953D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.A853D(4)|p.A953D(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGACTTATAGGCTTTGCCACA	0.368000													16	29					2.32078e-09	2.77691e-09	0.479597	1	0
BAI3	577	broad.mit.edu	37	6	69759227	69759227	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:69759227G>T	ENST00000370598.1	+	15	3143	c.2322G>T	c.(2320-2322)ttG>ttT	p.L774F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	774					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L774F(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCTAATTTTGCCCACTTTGA	0.289000													6	52					0.00116845	0.00121974	0.217242	1	0
DMXL1	1657	broad.mit.edu	37	5	118468880	118468880	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:118468880G>T	ENST00000311085.8	+	11	1449	c.1369G>T	c.(1369-1371)Ggc>Tgc	p.G457C	DMXL1_ENST00000539542.1_Missense_Mutation_p.G457C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	457								p.G457C(2)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAAGGAATTAGGCTGTGATAA	0.343000													32	94					2.46105e-21	4.10715e-21	0.750413	1	0
PPFIA2	8499	broad.mit.edu	37	12	81676789	81676789	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:81676789C>A	ENST00000550584.2	-	25	3313	c.3018_splice	c.e25+1	p.Q1006_splice	PPFIA2_ENST00000552948.1_Splice_Site_p.Q985_splice|PPFIA2_ENST00000550359.2_Splice_Site_p.Q853_splice|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000407050.4_Splice_Site_p.Q911_splice|PPFIA2_ENST00000333447.7_Splice_Site_p.Q991_splice|PPFIA2_ENST00000549396.1_Splice_Site_p.Q1006_splice|PPFIA2_ENST00000545296.2_Intron|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000443686.3_Splice_Site_p.Q907_splice|PPFIA2_ENST00000549325.1_Splice_Site_p.Q991_splice|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000548586.1_Splice_Site_p.Q1006_splice	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	910								p.Q1006H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AATCTCCTACCTGGGCCCAGC	0.318000													8	17					1.58986e-06	1.76112e-06	0.361761	1	0
B3GALT1	8708	broad.mit.edu	37	2	168726315	168726315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:168726315C>A	ENST00000305861.1	+	2	1117	c.766C>A	c.(766-768)Ctc>Atc	p.L256I	B3GALT1_ENST00000392690.2_Missense_Mutation_p.L256I|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	256					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.L256I(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAAGACCTCACTCCACACAAG	0.488000													46	84					9.84934e-19	1.56806e-18	0.853193	1	0
CHST9	83539	broad.mit.edu	37	18	24604116	24604116	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:24604116C>T	ENST00000284224.8	-	4	443	c.166G>A	c.(166-168)Gga>Aga	p.G56R	AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.G56R|CHST9_ENST00000580774.1_Missense_Mutation_p.G56R	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	56					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.G56R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTCACTGGTCCCCATCCTGAA	0.378000													7	40					0	0	0.278610	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145401	25145401	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr22:25145401G>A	ENST00000332271.5	-	11	1720	c.1304C>T	c.(1303-1305)aCa>aTa	p.T435I	PIWIL3_ENST00000527701.1_Missense_Mutation_p.T326I|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.T326I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	435					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.T435I(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCTTTTAATGTATGATGCCT	0.363000													21	86					0	0	0.608945	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885793	180885793	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:180885793C>T	ENST00000367588.4	+	2	609	c.554C>T	c.(553-555)cCg>cTg	p.P185L		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	185								p.P185L(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGGGGGAGCCCGTGGCCTCCA	0.642000													46	148					0	0	0.870114	0	0
SSPO	23145	broad.mit.edu	37	7	149486458	149486458	+	RNA	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:149486458G>T	ENST00000378016.2	+	0	4434							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGACTGTCTGGATGCCGCCG	0.687000													6	30					5.18039e-06	5.68871e-06	0.278610	1	0
WDR70	55100	broad.mit.edu	37	5	37703180	37703180	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:37703180C>G	ENST00000265107.4	+	13	1563	c.1407C>G	c.(1405-1407)atC>atG	p.I469M		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	469								p.I469M(2)		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)			AAATAGACATCACAGATGCGG	0.393000													16	126					0	0	0.500413	0	0
PSKH2	85481	broad.mit.edu	37	8	87076322	87076322	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:87076322C>A	ENST00000276616.2	-	2	798	c.724G>T	c.(724-726)Gca>Tca	p.A242S	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	242	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.A242S(2)		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)			ATGTCCACTGCACTGGTATAA	0.463000													25	71					1.42536e-11	1.85418e-11	0.681144	1	0
FRMD3	257019	broad.mit.edu	37	9	85905627	85905627	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:85905627C>G	ENST00000304195.3	-	13	1292	c.1086G>C	c.(1084-1086)caG>caC	p.Q362H	FRMD3_ENST00000376438.1_Missense_Mutation_p.Q362H|FRMD3_ENST00000376434.1_Missense_Mutation_p.Q168H	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	362						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.Q362H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AACTGCGGCTCTGAGTAATGT	0.527000													28	92					0	0	0.729181	0	0
CORIN	10699	broad.mit.edu	37	4	47685848	47685848	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:47685848G>A	ENST00000273857.4	-	7	920	c.921C>T	c.(919-921)agC>agT	p.S307S	CORIN_ENST00000505909.1_Silent_p.S307S|CORIN_ENST00000508498.1_Silent_p.S168S|CORIN_ENST00000502252.1_Silent_p.S240S|CORIN_ENST00000504584.1_Silent_p.S307S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	307	LDL-receptor class A 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.S307S(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACAGATTCTCGCTGCAGTCTG	0.428000													14	57					0	0	0.435327	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28209990	28209990	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:28209990G>A	ENST00000284984.2	-	9	3266	c.2812C>T	c.(2812-2814)Cat>Tat	p.H938Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	938	TSP type-1 3.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.H938Y(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCTCCATCATGGGACAGACAC	0.458000													34	129					0	0	0.760397	0	0
MROH2B	133558	broad.mit.edu	37	5	40999785	40999785	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:40999785G>C	ENST00000399564.4	-	40	5029	c.4579C>G	c.(4579-4581)Ctc>Gtc	p.L1527V	MROH2B_ENST00000506092.2_Missense_Mutation_p.L1082V	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L1527V(2)									TCACCTGTGAGTTTGACAGCT	0.483000													25	73					0	0	0.667858	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227219083	227219083	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:227219083T>G	ENST00000366769.3	-	27	4877	c.3586A>C	c.(3586-3588)Aga>Cga	p.R1196R	CDC42BPA_ENST00000366765.3_Silent_p.R1209R|CDC42BPA_ENST00000366764.2_Silent_p.R1168R|CDC42BPA_ENST00000366766.2_Silent_p.R1231R|CDC42BPA_ENST00000366767.3_Silent_p.R1115R|CDC42BPA_ENST00000334218.5_Silent_p.R1196R|CDC42BPA_ENST00000535525.1_Silent_p.R1176R	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1209	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R1231R(2)|p.R1115R(2)|p.R1196R(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGCGGTCTCTGAATTTGTTT	0.418000													147	234					0	0	0.870114	0	0
KCNK16	83795	broad.mit.edu	37	6	39290313	39290313	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:39290313G>T	ENST00000425054.2	-	1	3	c.4C>A	c.(4-6)Ccc>Acc	p.P2T	KCNK16_ENST00000437525.2_Missense_Mutation_p.P2T|KCNK16_ENST00000373227.4_Missense_Mutation_p.P2T|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373229.5_Missense_Mutation_p.P2T	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	2						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.P2T(2)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCAGCACTGGGCATGCTGTGG	0.667000													4	8					0.00909568	0.00930351	0.150653	1	0
EPHB6	2051	broad.mit.edu	37	7	142566456	142566456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:142566456G>T	ENST00000392957.2	+	15	3032	c.2245G>T	c.(2245-2247)Gag>Tag	p.E749*	EPHB6_ENST00000411471.2_Nonsense_Mutation_p.E472*|EPHB6_ENST00000442129.1_Nonsense_Mutation_p.E749*	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	749	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.E734*(2)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGTGCTGACGGAGTTCATGGA	0.647000													23	76					1.85244e-09	2.22001e-09	0.654019	1	0
TRO	7216	broad.mit.edu	37	X	54955191	54955191	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:54955191G>T	ENST00000173898.7	+	12	2146	c.2034G>T	c.(2032-2034)tgG>tgT	p.W678C	TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.W209C|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.W281C	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	678					embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.W678C(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ctgggccctggaattgggATG	0.552000													7	15					0.27861	0.279713	0.278610	1	0
CASC1	55259	broad.mit.edu	37	12	25261485	25261485	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:25261485G>T	ENST00000395990.2	-	17	2285	c.2028C>A	c.(2026-2028)tcC>tcA	p.S676S	CASC1_ENST00000545133.1_Silent_p.S657S|CASC1_ENST00000395987.3_Silent_p.S722S|CASC1_ENST00000354189.5_3'UTR|CASC1_ENST00000320267.9_Silent_p.S716S|CASC1_ENST00000537577.1_3'UTR	NM_001204102.1	NP_001191031.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	716								p.S722S(2)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTGGAGGTTAGGAGTAGCTGA	0.418000													12	25					4.36969e-10	5.3462e-10	0.435327	1	0
UGT2B4	7363	broad.mit.edu	37	4	70346378	70346378	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:70346378T>C	ENST00000305107.6	-	6	1607	c.1561A>G	c.(1561-1563)Aca>Gca	p.T521A	UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.T385A	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	521					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.T521A(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTCTTTCCTGTTCTAACAAAC	0.418000													53	164					0	0	0.870114	0	0
TRAK1	22906	broad.mit.edu	37	3	42166916	42166916	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:42166916G>T	ENST00000327628.5	+	2	496	c.96G>T	c.(94-96)gtG>gtT	p.V32V	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	32					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		p.V32V(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTTTAGATGTGTGCAACAGCA	0.488000													18	35					0.00074312	0.00078002	0.539581	1	0
PDE3A	5139	broad.mit.edu	37	12	20801732	20801732	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:20801732G>T	ENST00000359062.3	+	13	2716	c.2676G>T	c.(2674-2676)gtG>gtT	p.V892V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	892	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E893*(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTGACCATGTGGAATTTAAGC	0.398000													35	103					7.11191e-15	1.03089e-14	0.769981	1	0
NCOA3	8202	broad.mit.edu	37	20	46268485	46268485	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:46268485A>G	ENST00000372004.3	+	15	3088	c.2872A>G	c.(2872-2874)Att>Gtt	p.I958V	NCOA3_ENST00000341724.6_Missense_Mutation_p.I888V|NCOA3_ENST00000371997.3_Missense_Mutation_p.I953V|NCOA3_ENST00000371998.3_Missense_Mutation_p.I958V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	958					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.I958V(2)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGTGGCTCTATTCCCACATT	0.493000													78	179					0	0	0.870114	0	0
FBN2	2201	broad.mit.edu	37	5	127727745	127727745	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:127727745C>A	ENST00000508053.1	-	17	2543	c.1569G>T	c.(1567-1569)atG>atT	p.M523I	FBN2_ENST00000262464.4_Missense_Mutation_p.M523I|FBN2_ENST00000508989.1_Missense_Mutation_p.M490I			P35556	FBN2_HUMAN	fibrillin 2	523	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.M523I(4)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTTATAACCCATGTTGCATT	0.348000													22	50					3.5997e-14	5.12032e-14	0.624587	1	0
SETX	23064	broad.mit.edu	37	9	135206746	135206746	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:135206746C>T	ENST00000372169.2	-	8	1110	c.928G>A	c.(928-930)Gat>Aat	p.D310N	SETX_ENST00000224140.5_Missense_Mutation_p.D310N|SETX_ENST00000393220.1_Missense_Mutation_p.D310N			Q7Z333	SETX_HUMAN	senataxin	310					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.D310N(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACAATAGGATCCATAAGTTGA	0.423000													15	63					0	0	0.457914	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982276	61982276	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:61982276T>C	ENST00000370263.4	-	5	708	c.487A>G	c.(487-489)Atc>Gtc	p.I163V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	163					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.I163V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GTGACGTCGATGCTGCAGGAG	0.597000													27	136					0	0	0.681144	0	0
RLF	6018	broad.mit.edu	37	1	40705942	40705942	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:40705942C>T	ENST00000372771.4	+	8	5595	c.5568C>T	c.(5566-5568)tcC>tcT	p.S1856S		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1856					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S1856S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAGTTCCTTCCTTGGAAAACC	0.423000													38	116					0	0	0.812448	0	0
FER1L6	654463	broad.mit.edu	37	8	125109517	125109517	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:125109517C>T	ENST00000522917.1	+	36	4907	c.4701C>T	c.(4699-4701)cgC>cgT	p.R1567R	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.R1567R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1567						integral to membrane		p.R1567R(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAAGGGCCGCCTGCAGATGT	0.468000													92	146					0	0	0.870114	0	0
CNTN5	53942	broad.mit.edu	37	11	99945012	99945012	+	Silent	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:99945012T>C	ENST00000524871.1	+	13	1856	c.1566T>C	c.(1564-1566)gtT>gtC	p.V522V	CNTN5_ENST00000527185.1_Silent_p.V522V|CNTN5_ENST00000528682.1_Silent_p.V522V|CNTN5_ENST00000279463.3_Silent_p.V522V|CNTN5_ENST00000418526.2_Silent_p.V448V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	522	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V522V(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGAGCAGTTAGAGAAAACA	0.363000													4	16					0	0	0.184627	0	0
NEB	4703	broad.mit.edu	37	2	152566225	152566225	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:152566225T>A	ENST00000427231.2	-	12	1182	c.980A>T	c.(979-981)cAg>cTg	p.Q327L	NEB_ENST00000409198.1_Missense_Mutation_p.Q327L|NEB_ENST00000603639.1_Missense_Mutation_p.Q327L|NEB_ENST00000604864.1_Missense_Mutation_p.Q327L|NEB_ENST00000172853.10_Missense_Mutation_p.Q327L|NEB_ENST00000397345.3_Missense_Mutation_p.Q327L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	327					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.Q327L(4)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTTTCGGTCTGCATGAAGTA	0.398000													4	16					0	0	0.150653	0	0
CAPS2	84698	broad.mit.edu	37	12	75678809	75678809	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:75678809C>A	ENST00000393284.3	-	15	1409	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	CAPS2_ENST00000442339.2_Missense_Mutation_p.D92Y|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409445.3_Missense_Mutation_p.D502Y|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.D420Y			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	502							calcium ion binding	p.D270Y(2)|p.D502Y(2)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TCTCCATAATCAACCTTGCCA	0.323000													34	38					2.68265e-12	3.6261e-12	0.769981	1	0
ATRNL1	26033	broad.mit.edu	37	10	116930936	116930936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:116930936G>A	ENST00000527407.1	+	7	1434	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	ATRNL1_ENST00000355044.3_Missense_Mutation_p.E412K|ATRNL1_ENST00000529665.1_3'UTR			Q5VV63	ATRN1_HUMAN	attractin-like 1	0						integral to membrane	sugar binding	p.E412K(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTATGCTGTGGAGGGACATTC	0.373000													48	104					0	0	0.870114	0	0
CKAP4	10970	broad.mit.edu	37	12	106633401	106633401	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:106633401G>C	ENST00000378026.4	-	2	1346	c.1210C>G	c.(1210-1212)Caa>Gaa	p.Q404E		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	404						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.Q404E(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TGACTCTTTTGCTGGAGTGCC	0.632000													53	83					0	0	0.870114	0	0
PCLO	27445	broad.mit.edu	37	7	82581394	82581394	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:82581394C>A	ENST00000423517.2	-	5	9212	c.8875G>T	c.(8875-8877)Gca>Tca	p.A2959S	PCLO_ENST00000333891.8_Missense_Mutation_p.A2959S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2890					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A2959S(4)|p.A2890S(2)		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						AGAGTAGTTGCAGGCTGCTGT	0.463000													42	163					7.53189e-24	1.29385e-23	0.834066	1	0
FCGBP	8857	broad.mit.edu	37	19	40411754	40411754	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:40411754C>G	ENST00000221347.6	-	7	3881	c.3874G>C	c.(3874-3876)Gcc>Ccc	p.A1292P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1292	VWFD 3.					extracellular region	protein binding	p.A1292P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCAGGACGGCAAACCGATGC	0.637000													38	77					0	0	0.870114	0	0
CHST2	9435	broad.mit.edu	37	3	142841221	142841221	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:142841221C>A	ENST00000309575.3	+	2	2947	c.1563C>A	c.(1561-1563)agC>agA	p.S521R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	521					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.S521R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AAGACCTCAGCAAGACCCTGC	0.527000													13	37					2.61681e-11	3.34688e-11	0.457914	1	0
OR8K5	219453	broad.mit.edu	37	11	55927268	55927268	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:55927268G>T	ENST00000313447.1	-	1	525	c.526C>A	c.(526-528)Cat>Aat	p.H176N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H176N(2)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CAGTAAAAATGACTGATGACA	0.358000													27	98					4.87955e-14	6.91497e-14	0.693898	1	0
MMAA	166785	broad.mit.edu	37	4	146576326	146576326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:146576326G>T	ENST00000281317.5	+	7	2207	c.997G>T	c.(997-999)Gag>Tag	p.E333*	MMAA_ENST00000541599.1_Nonsense_Mutation_p.E52*	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	333						mitochondrion	GTP binding|nucleoside-triphosphatase activity	p.E333*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGAAGTGGAGAGGGGATCTC	0.423000													28	107					4.87955e-14	6.91497e-14	0.693898	1	0
CTNND2	1501	broad.mit.edu	37	5	11022998	11022998	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:11022998G>T	ENST00000304623.8	-	17	3071	c.2882C>A	c.(2881-2883)aCa>aAa	p.T961K	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.T528K|CTNND2_ENST00000503622.1_Missense_Mutation_p.T624K|CTNND2_ENST00000511377.1_Missense_Mutation_p.T870K|CTNND2_ENST00000359640.2_Missense_Mutation_p.T903K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	961					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.T961K(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAGACAGCTGTCACTGTGTC	0.547000													28	96					8.24728e-16	1.22105e-15	0.681144	1	0
GJA1	2697	broad.mit.edu	37	6	121768935	121768935	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:121768935T>G	ENST00000282561.3	+	2	1099	c.942T>G	c.(940-942)agT>agG	p.S314R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	314					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.S314R(2)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTAATTACAGTGCAGAACAAA	0.458000													38	105					0	0	0.840704	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269342	43269342	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:43269342G>T	ENST00000372585.5	+	7	1068	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G323W|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G323W	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	325						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.G325W(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGTGGCCGCCGGGGAACGGGT	0.587000													13	48					4.14922e-12	5.5493e-12	0.500413	1	0
CIZ1	25792	broad.mit.edu	37	9	130941545	130941545	+	Missense_Mutation	SNP	C	C	G	rs111464781		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:130941545C>G	ENST00000538431.1	-	8	1188	c.941G>C	c.(940-942)cGg>cCg	p.R314P	CIZ1_ENST00000393608.1_Missense_Mutation_p.R314P|CIZ1_ENST00000541172.1_Missense_Mutation_p.R213P|CIZ1_ENST00000372948.3_Missense_Mutation_p.R314P|CIZ1_ENST00000372954.1_Missense_Mutation_p.R290P|CIZ1_ENST00000372938.5_Missense_Mutation_p.R314P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000357558.5_Missense_Mutation_p.R314P|CIZ1_ENST00000325721.8_Missense_Mutation_p.R285P|CIZ1_ENST00000277465.4_Missense_Mutation_p.R314P	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	314	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding	p.R314P(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCAGGACCCGTGGCTGGAA	0.632000													33	86					0	0	0.819951	0	0
JKAMP	51528	broad.mit.edu	37	14	59970757	59970757	+	Silent	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:59970757A>T	ENST00000554271.1	+	7	1471	c.945A>T	c.(943-945)tcA>tcT	p.S315S	JKAMP_ENST00000356057.5_Silent_p.S309S|JKAMP_ENST00000261247.9_Silent_p.S301S|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000425728.2_Silent_p.S295S			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	316					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	p.S311S(2)|p.S309S(2)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CCGAACCTTCAAGGATACTCT	0.398000													7	55					0	0	0.248553	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1969334	1969334	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:1969334C>G	ENST00000382722.5	-	19	2279	c.1917G>C	c.(1915-1917)acG>acC	p.T639T	CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000585732.1_Silent_p.T500T|CACNA2D4_ENST00000586184.1_Silent_p.T639T|CACNA2D4_ENST00000587995.1_Silent_p.T614T|CACNA2D4_ENST00000588077.1_Silent_p.T575T|CACNA2D4_ENST00000585708.1_Silent_p.T575T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	639						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.T639T(4)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CGCTGATGTCCGTGAAGAAGT	0.502000													9	14					0	0	0.411799	0	0
MUC13	56667	broad.mit.edu	37	3	124646418	124646418	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:124646418C>A	ENST00000311075.3	-	2	510	c.472G>T	c.(472-474)Ggc>Tgc	p.G158C		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	158	Thr-rich.					extracellular region|integral to membrane|plasma membrane		p.G158C(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AAAGCGGTGCCAGTGGGAGGC	0.473000													65	219					1.84395e-34	3.53463e-34	0.870114	1	0
TRAV8-6	28680	broad.mit.edu	37	14	22447104	22447104	+	RNA	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:22447104C>T	ENST00000390443.3	+	0	305																											GCTTGACAGCCAAGTCCCTGT	0.468000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	200					0	0	0.870114	0	0
PJA1	64219	broad.mit.edu	37	X	68381607	68381607	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:68381607T>A	ENST00000361478.1	-	2	1852	c.1475A>T	c.(1474-1476)gAt>gTt	p.D492V	PJA1_ENST00000374571.4_Missense_Mutation_p.D437V|PJA1_ENST00000374583.1_Missense_Mutation_p.D492V|PJA1_ENST00000374584.3_Missense_Mutation_p.D304V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	492							zinc ion binding	p.D492V(2)|p.D304V(2)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GTTGTTTCCATCCAGCATGAA	0.478000													50	78					0	0	0.870114	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499667	18499667	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:18499667G>T	ENST00000433979.1	+	11	1638	c.1522G>T	c.(1522-1524)Gta>Tta	p.V508L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.V508L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.V508L|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.V508L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	508					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	p.V508L(4)		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)				TTTTCAGCCTGTAAATGTACC	0.438000													29	74					1.80694e-10	2.26165e-10	0.740014	1	0
MAGEF1	64110	broad.mit.edu	37	3	184429233	184429233	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:184429233C>A	ENST00000317897.3	-	1	603	c.377G>T	c.(376-378)cGg>cTg	p.R126L		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	126	MAGE.							p.R126L(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			AAAGACATACCGCAGATGCTC	0.488000													35	158					6.53348e-20	1.06239e-19	0.788014	1	0
TRPM6	140803	broad.mit.edu	37	9	77378052	77378052	+	Splice_Site	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:77378052T>C	ENST00000451710.3	-	26	3774		c.e26-2		TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000360774.1_Splice_Site|TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.?(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCTGTAACCCTAGTGGTGAAG	0.458000													9	44					0	0	0.307466	0	0
OR4D5	219875	broad.mit.edu	37	11	123811224	123811224	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:123811224C>T	ENST00000307033.2	+	1	975	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L301L(2)|p.L301M(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATGAAGAAGCTGTGGAGGAG	0.493000													31	150					0	0	0.750413	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161959	90161959	+	RNA	SNP	C	C	T	rs62052676		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:90161959C>T	ENST00000564451.1	+	0	1312				TUBB8P7_ENST00000567960.1_RNA																							GTGTCTGCTACCATGAGTTGG	0.542000													6	73					0	0	0.217242	0	0
RBM45	129831	broad.mit.edu	37	2	178977516	178977516	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:178977516G>T	ENST00000286070.5	+	1	335	c.243G>T	c.(241-243)agG>agT	p.R81S		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	81	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	p.R81S(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AGGCCTGCAGGGCCATGGAGG	0.652000													25	77					1.77063e-15	2.59125e-15	0.693898	1	0
TRPM6	140803	broad.mit.edu	37	9	77423091	77423091	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:77423091C>A	ENST00000451710.3	-	14	1735		c.e14-1		TRPM6_ENST00000376872.3_Splice_Site|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000360774.1_Splice_Site|TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.?(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAAGGGTATGCTGCAACAAAA	0.358000													21	78					1.50039e-11	1.94183e-11	0.608945	1	0
DTX1	1840	broad.mit.edu	37	12	113515246	113515246	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:113515246C>A	ENST00000257600.3	+	2	780	c.277C>A	c.(277-279)Cgg>Agg	p.R93R		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	93	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.R93R(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCGGCCCGTGCGGCGCAACTT	0.682000													24	37					4.26978e-12	5.69054e-12	0.654019	1	0
PREX1	57580	broad.mit.edu	37	20	47364417	47364417	+	Splice_Site	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:47364417C>A	ENST00000396220.1	-	2	242	c.219_splice	c.e2-1	p.A74_splice	PREX1_ENST00000371941.3_Splice_Site_p.A74_splice			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	74	DH.				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	p.A74S(4)|p.A74T(2)		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)			TGCAGGAATGCCTGGAGGAGA	0.592000													7	22					8.12818e-05	8.62699e-05	0.248553	1	0
MXRA5	25878	broad.mit.edu	37	X	3228247	3228247	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:3228247T>A	ENST00000217939.6	-	7	8151	c.7997A>T	c.(7996-7998)cAg>cTg	p.Q2666L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2666	Ig-like C2-type 11.					extracellular region		p.Q2666L(4)		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)				GAAACGTCCCTGCCCAGCCCC	0.592000													28	72					0	0	0.706142	0	0
EGR2	1959	broad.mit.edu	37	10	64575716	64575716	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:64575716A>G	ENST00000242480.3	-	1	399	c.74T>C	c.(73-75)aTc>aCc	p.I25T	EGR2_ENST00000411732.1_5'UTR|EGR2_ENST00000439032.1_Missense_Mutation_p.I25T|EGR2_ENST00000493899.2_5'UTR	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	25					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.I25T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CACCGGGTAGATGTTGTCAGA	0.572000													74	140					0	0	0.870114	0	0
ZXDC	79364	broad.mit.edu	37	3	126180702	126180702	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:126180702C>A	ENST00000389709.3	-	6	1856	c.1803G>T	c.(1801-1803)gtG>gtT	p.V601V	ZXDC_ENST00000336332.5_Silent_p.V601V	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	601	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V601V(4)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCACAGTCTGCACGTCATCCA	0.567000													54	157					3.31993e-32	6.31616e-32	0.870114	1	0
GBE1	2632	broad.mit.edu	37	3	81586172	81586172	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:81586172G>A	ENST00000429644.2	-	13	2336	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	GBE1_ENST00000489715.1_Missense_Mutation_p.R524W	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	565					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.R565W(4)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TGAAACTGCCGCCTGGCATAA	0.383000									Glycogen Storage Disease, type IV				14	33					0	0	0.435327	0	0
SLIT3	6586	broad.mit.edu	37	5	168096927	168096927	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:168096927C>A	ENST00000519560.1	-	35	4616	c.4197G>T	c.(4195-4197)ggG>ggT	p.G1399G	SLIT3_ENST00000404867.3_Silent_p.G1399G|SLIT3_ENST00000332966.8_Silent_p.G1406G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1399	EGF-like 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.G1399G(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACACAAGTCCCCTCCATAGC	0.552000													18	40					6.94344e-10	8.44083e-10	0.539581	1	0
TMEM2	23670	broad.mit.edu	37	9	74327059	74327059	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:74327059C>A	ENST00000377044.4	-	16	3248	c.2709G>T	c.(2707-2709)atG>atT	p.M903I	TMEM2_ENST00000377066.5_Missense_Mutation_p.M840I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	903						integral to membrane		p.M903I(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAATTCTTCATGAGGAAGC	0.428000													23	109					5.26018e-13	7.30474e-13	0.608945	1	0
KCNT2	343450	broad.mit.edu	37	1	196197364	196197364	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:196197364G>T	ENST00000367433.5	-	27	3427	c.3326C>A	c.(3325-3327)aCt>aAt	p.T1109N	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.T1067N|KCNT2_ENST00000294725.8_Missense_Mutation_p.T1133N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1133						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.T1133N(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCAAAGTTGAGTTTCCTCCCG	0.398000													10	49					1.76689e-08	2.05597e-08	0.335167	1	0
DST	667	broad.mit.edu	37	6	56472157	56472157	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:56472157G>A	ENST00000370754.5	-	39	7169	c.7170C>T	c.(7168-7170)aaC>aaT	p.N2390N	DST_ENST00000370769.4_Silent_p.N2212N|DST_ENST00000446842.2_Silent_p.N1886N|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Silent_p.N2212N|DST_ENST00000312431.6_Silent_p.N2212N|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2212					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)			GTGAATCCCTGTTTGTATTAT	0.343000													25	59					0	0	0.654019	0	0
SLC12A3	6559	broad.mit.edu	37	16	56901119	56901119	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:56901119G>A	ENST00000438926.2	+	2	449	c.420G>A	c.(418-420)aaG>aaA	p.K140K	SLC12A3_ENST00000563236.1_Silent_p.K140K|SLC12A3_ENST00000566786.1_Silent_p.K139K|SLC12A3_ENST00000262502.5_Silent_p.K139K	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	140					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.K140K(2)		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)	GCTGGGTCAAGGGGGTGATGG	0.662000													6	32					0	0	0.217242	0	0
CSPP1	79848	broad.mit.edu	37	8	68030483	68030483	+	Splice_Site	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:68030483G>C	ENST00000262210.5	+	12	1513	c.1481_splice	c.e12-1	p.R494_splice	CSPP1_ENST00000412460.1_Splice_Site_p.R200_splice	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	529	Pro-rich.					centrosome|microtubule|spindle		p.R494S(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTTCATACAGGATTGCACCTC	0.353000													52	129					0	0	0.870114	0	0
ZPBP	11055	broad.mit.edu	37	7	50121455	50121455	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:50121455C>A	ENST00000046087.2	-	3	318	c.249G>T	c.(247-249)gtG>gtT	p.V83V	ZPBP_ENST00000419417.1_Silent_p.V83V	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	83					binding of sperm to zona pellucida	extracellular region		p.V83V(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTACACATAACACGTGTGGAC	0.353000													20	52					2.4624e-09	2.93712e-09	0.575678	1	0
URGCP	55665	broad.mit.edu	37	7	43918478	43918478	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:43918478T>A	ENST00000336086.6	-	4	2691	c.455A>T	c.(454-456)gAc>gTc	p.D152V	RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.D152V|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.D152V|URGCP_ENST00000453200.1_Missense_Mutation_p.D195V|URGCP_ENST00000402306.3_Missense_Mutation_p.D186V|URGCP_ENST00000443736.1_Missense_Mutation_p.D152V			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	195					cell cycle	centrosome|nucleus	GTP binding	p.D152V(2)|p.D195V(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGAAACTGTCTGAGGAGAG	0.517000													24	54					0	0	0.667858	0	0
BCAN	63827	broad.mit.edu	37	1	156618448	156618448	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:156618448C>G	ENST00000329117.4	+	6	1194	c.858C>G	c.(856-858)acC>acG	p.T286T	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.T286T	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	286	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.T286T(4)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGATTGCCACCACGGGCCAAC	0.627000													100	198					0	0	0.870114	0	0
LPIN3	64900	broad.mit.edu	37	20	39985681	39985681	+	Splice_Site	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:39985681G>T	ENST00000373257.3	+	15	1896	c.1803_splice	c.e15-1	p.R602_splice		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	602	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	p.R602L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGGCCTCAGCGGCGCCTGAAC	0.612000													14	62					0.000422831	0.000445671	0.500413	1	0
CACNA1E	777	broad.mit.edu	37	1	181546938	181546938	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:181546938C>A	ENST00000526775.1	+	4	714	c.549C>A	c.(547-549)caC>caA	p.H183Q	CACNA1E_ENST00000367570.1_Missense_Mutation_p.H183Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.H183Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.H134Q|CACNA1E_ENST00000367567.4_De_novo_Start_InFrame|CACNA1E_ENST00000358338.5_Missense_Mutation_p.H134Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.H183Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	183					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.H183Q(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAATACTCACGTGGACCTGA	0.552000													12	28					7.03913e-09	8.33091e-09	0.411799	1	0
VPS36	51028	broad.mit.edu	37	13	53024666	53024666	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:53024666G>A	ENST00000378060.4	-	1	91	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	22	GLUE N-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.R22C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CGCACCCCGCGCTGCTGGATC	0.711000													19	17					0	0	0.608945	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332285	100332285	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:100332285C>A	ENST00000341853.1	-	0	1906					NR_003260.1																						TGGGGAGACCCACCGGGCCAT	0.662000													20	38					1.40151e-16	2.11198e-16	0.592651	1	0
UTRN	7402	broad.mit.edu	37	6	144854358	144854358	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:144854358G>T	ENST00000367545.3	+	42	6195	c.6195G>T	c.(6193-6195)tgG>tgT	p.W2065C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2065					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.W2065C(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCAACGCTGGGATGCAATTG	0.438000													24	100					1.30988e-24	2.28105e-24	0.750413	1	0
HJURP	55355	broad.mit.edu	37	2	234750372	234750372	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:234750372C>A	ENST00000411486.2	-	8	1119	c.1054G>T	c.(1054-1056)Ggt>Tgt	p.G352C	HJURP_ENST00000432087.1_Missense_Mutation_p.G298C|HJURP_ENST00000441687.1_Missense_Mutation_p.G267C	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	352					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.G352F(2)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AATTTTAAACCTGTCTTACGG	0.438000													9	78					0.000274275	0.000289491	0.307466	1	0
GLRB	2743	broad.mit.edu	37	4	158058029	158058029	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:158058029C>A	ENST00000264428.4	+	6	871	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	GLRB_ENST00000541722.1_Missense_Mutation_p.L201M|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.L201M	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	201					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.L201M(2)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CAAGATGCAACTGGAGAGCTG	0.363000													32	65					2.70662e-09	3.22338e-09	0.740014	1	0
ZNF570	148268	broad.mit.edu	37	19	37976118	37976118	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:37976118A>T	ENST00000330173.1	+	5	2123	c.1594A>T	c.(1594-1596)Aat>Tat	p.N532Y	ZNF570_ENST00000586475.1_Missense_Mutation_p.N588Y|ZNF570_ENST00000388801.3_Missense_Mutation_p.N329Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N532Y(2)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			caacccagtcaatcaccaagt	0.408000													13	32					0	0	0.435327	0	0
U2SURP	23350	broad.mit.edu	37	3	142747463	142747463	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:142747463A>T	ENST00000397933.2	+	15	1640	c.358A>T	c.(358-360)Agt>Tgt	p.S120C	U2SURP_ENST00000493598.2_Missense_Mutation_p.S528C|U2SURP_ENST00000473835.2_Missense_Mutation_p.S529C			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	529					RNA processing	nucleus	nucleotide binding|RNA binding	p.S529C(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGAGGAACCTAGTAAAAAGGG	0.333000													24	55					0	0	0.639603	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024729	203024729	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:203024729G>T	ENST00000367240.2	+	15	2463	c.1936G>T	c.(1936-1938)Ggc>Tgc	p.G646C	PPFIA4_ENST00000272198.6_Missense_Mutation_p.G161C|PPFIA4_ENST00000414050.2_Missense_Mutation_p.G374C|PPFIA4_ENST00000295706.4_Missense_Mutation_p.G161C|PPFIA4_ENST00000447715.2_Missense_Mutation_p.G645C|PPFIA4_ENST00000599966.1_Missense_Mutation_p.G161C			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	161					cell communication	cell surface|cytoplasm	protein binding	p.G161C(2)|p.G792C(2)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACCACTCAGCGGCCGCTCCAC	0.662000													12	55					3.32936e-07	3.72594e-07	0.539581	1	0
FLG	2312	broad.mit.edu	37	1	152282083	152282083	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:152282083C>G	ENST00000368799.1	-	3	5314	c.5279G>C	c.(5278-5280)gGa>gCa	p.G1760A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1760	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1760A(2)		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)			CCCTGAACGTCCAGACCTTTC	0.597000									Ichthyosis				222	395					0	0	0.870114	0	0
CDH9	1007	broad.mit.edu	37	5	26915967	26915967	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:26915967G>A	ENST00000231021.4	-	3	466	c.294C>T	c.(292-294)ggC>ggT	p.G98G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	98	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G98G(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAAATAGACTGCCAGCCCCAT	0.368000													48	155					0	0	0.870114	0	0
DNAJC11	55735	broad.mit.edu	37	1	6706000	6706000	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:6706000C>T	ENST00000377577.5	-	8	866	c.743G>A	c.(742-744)cGt>cAt	p.R248H	DNAJC11_ENST00000294401.7_Missense_Mutation_p.R248H|DNAJC11_ENST00000542246.1_Missense_Mutation_p.R210H|DNAJC11_ENST00000349363.6_Missense_Mutation_p.R210H|DNAJC11_ENST00000377573.5_Missense_Mutation_p.R158H	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	248					protein folding		heat shock protein binding|unfolded protein binding	p.R248H(2)|p.R278H(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGATTCCACGGGATGAAAA	0.537000													66	204					0	0	0.870114	0	0
TENM4	26011	broad.mit.edu	37	11	78369779	78369779	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:78369779G>A	ENST00000278550.7	-	34	8096	c.7634C>T	c.(7633-7635)tCc>tTc	p.S2545F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.S2545F(4)									GGTGATTGTGGAGCCATAGAG	0.537000													37	84					0	0	0.804634	0	0
HECW1	23072	broad.mit.edu	37	7	43447307	43447307	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:43447307G>T	ENST00000395891.1	+	8	1383	c.778G>T	c.(778-780)Gtg>Ttg	p.V260L	HECW1_ENST00000453890.1_Missense_Mutation_p.V260L|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	260	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.V239L(2)|p.V260L(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGCAACACCGTGAACCCCAT	0.547000													14	82					0.00244969	0.00252947	0.457914	1	0
ZNF423	23090	broad.mit.edu	37	16	49559353	49559353	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:49559353C>A	ENST00000561648.1	-	6	3683	c.3630G>T	c.(3628-3630)ccG>ccT	p.P1210P	ZNF423_ENST00000562871.1_Silent_p.P1150P|ZNF423_ENST00000535559.1_Silent_p.P1093P|ZNF423_ENST00000567169.1_Silent_p.P1093P|ZNF423_ENST00000562520.1_Silent_p.P1150P|ZNF423_ENST00000262383.2_Silent_p.P1210P|ZNF423_ENST00000563137.2_Silent_p.P1150P	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1210					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P1210P(6)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGAGCTTGGCCGGGGAGTCGA	0.572000													33	145					8.53417e-09	1.00534e-08	0.769981	1	0
KCTD14	65987	broad.mit.edu	37	11	77727720	77727720	+	Silent	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:77727720G>A	ENST00000353172.5	-	2	731	c.687C>T	c.(685-687)ttC>ttT	p.F229F	KCTD14_ENST00000533144.1_Silent_p.F199F	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	229						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F229F(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AGAACTTGGAGAATACCTTGT	0.493000													30	114					0	0	0.729181	0	0
HERPUD2	64224	broad.mit.edu	37	7	35709856	35709856	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:35709856C>T	ENST00000396081.1	-	3	1112	c.308G>A	c.(307-309)aGt>aAt	p.S103N	HERPUD2_ENST00000311350.3_Missense_Mutation_p.S103N	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	103	Ser-rich.				response to unfolded protein	integral to membrane		p.S103N(2)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGCTTCATGACTTTCTCTATT	0.378000													6	91					0	0	0.248553	0	0
KLHL22	84861	broad.mit.edu	37	22	20812279	20812279	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr22:20812279G>A	ENST00000328879.4	-	5	1277	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	KLHL22_ENST00000440659.2_Missense_Mutation_p.P231L	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	374					cell division	Cul3-RING ubiquitin ligase complex		p.P374L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTTGTGCCGTGGGTCATACCT	0.597000													17	29					0	0	0.520397	0	0
WNT1	7471	broad.mit.edu	37	12	49374219	49374219	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:49374219C>A	ENST00000293549.3	+	3	407	c.371C>A	c.(370-372)aCg>aAg	p.T124K		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	124					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.T124K(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TGTCGAGAAACGGCGTTTATC	0.652000													15	33					1.5739e-10	1.98301e-10	0.500413	1	0
SLC2A9	56606	broad.mit.edu	37	4	10027563	10027563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:10027563C>A	ENST00000506583.1	-	3	245	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	SLC2A9_ENST00000309065.3_Nonsense_Mutation_p.E10*			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.E10*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						TCTTCATCTTCTCCTCGGTCC	0.393000													25	82					2.65835e-16	3.98229e-16	0.717897	1	0
C2orf57	165100	broad.mit.edu	37	2	232457748	232457748	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:232457748C>G	ENST00000313965.2	+	1	174	c.86C>G	c.(85-87)cCa>cGa	p.P29R		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	29								p.P29R(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGTCAGGTCCCACTCACAGCA	0.607000													27	137					0	0	0.706142	0	0
ANKRD55	79722	broad.mit.edu	37	5	55406997	55406997	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:55406997G>T	ENST00000341048.4	-	10	1729	c.1578C>A	c.(1576-1578)caC>caA	p.H526Q	ANKRD55_ENST00000504958.2_Missense_Mutation_p.H483Q|ANKRD55_ENST00000434982.2_Missense_Mutation_p.H238Q	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	525								p.H526Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGACCTCTTGGTGACCAGGCC	0.463000													67	222					1.64915e-30	3.09878e-30	0.870114	1	0
AMER3	205147	broad.mit.edu	37	2	131520903	131520903	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:131520903G>T	ENST00000423981.1	+	2	1368	c.1258G>T	c.(1258-1260)Gac>Tac	p.D420Y	AMER3_ENST00000321420.4_Missense_Mutation_p.D420Y	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									p.D420Y(2)									CTACAGTGGGGACGCCCTCTA	0.622000													18	66					2.21704e-12	3.00742e-12	0.639603	1	0
MAGEC3	139081	broad.mit.edu	37	X	140969330	140969330	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:140969330G>T	ENST00000298296.1	+	4	657	c.657G>T	c.(655-657)acG>acT	p.T219T	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	219	MAGE 1.							p.T219T(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACACATACACGGGCTACTTTC	0.438000													44	177					1.23103e-26	2.19909e-26	0.864702	1	0
SVEP1	79987	broad.mit.edu	37	9	113221313	113221313	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:113221313C>A	ENST00000401783.2	-	19	3739	c.3403G>T	c.(3403-3405)Gca>Tca	p.A1135S	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.A1112S|SVEP1_ENST00000302728.8_Missense_Mutation_p.A1135S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1135					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.A1135S(2)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCTTCCCTGCATTAGGTTGG	0.463000													35	230					2.20262e-25	3.89813e-25	0.769981	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803686	185803686	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:185803686C>A	ENST00000302277.6	+	4	4157	c.3563C>A	c.(3562-3564)cCc>cAc	p.P1188H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1188						intracellular	zinc ion binding	p.P1188H(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCATCTTTACCCCATGCACTC	0.473000													37	288					2.47316e-13	3.46606e-13	0.779181	1	0
KIRREL	55243	broad.mit.edu	37	1	158063219	158063219	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:158063219A>T	ENST00000368172.1	+	8	1016	c.1004A>T	c.(1003-1005)tAc>tTc	p.Y335F	KIRREL_ENST00000416935.2_Missense_Mutation_p.Y421F|KIRREL_ENST00000360089.4_Missense_Mutation_p.Y357F|KIRREL_ENST00000368173.3_Missense_Mutation_p.Y537F|KIRREL_ENST00000392272.2_Missense_Mutation_p.Y418F|KIRREL_ENST00000359209.6_Missense_Mutation_p.Y521F			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	521	Ig-like C2-type 4.					integral to membrane		p.Y521F(2)|p.Y357F(2)|p.Y537F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TTCTTCCTCTACCGGCGCCGC	0.602000													112	153					0	0	0.870114	0	0
ESM1	11082	broad.mit.edu	37	5	54281167	54281167	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:54281167C>A	ENST00000381405.4	-	1	324	c.179G>T	c.(178-180)gGg>gTg	p.G60V	ESM1_ENST00000381403.4_Missense_Mutation_p.G60V|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	60	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	p.G60V(2)		breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCTCCCCGCCCTGCAGCGCA	0.602000													23	70					1.96895e-08	2.28062e-08	0.639603	1	0
POU4F2	5458	broad.mit.edu	37	4	147561705	147561705	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:147561705G>T	ENST00000281321.3	+	2	1223	c.975G>T	c.(973-975)gaG>gaT	p.E325D		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	325	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.E325D(2)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GGCTCGAGGAGGCCGAGAAGT	0.592000													28	84					4.34311e-12	5.77815e-12	0.779181	1	0
LEPR	3953	broad.mit.edu	37	1	66083707	66083707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:66083707G>A	ENST00000349533.6	+	16	2458	c.2273G>A	c.(2272-2274)tGg>tAg	p.W758*	LEPR_ENST00000371059.3_Nonsense_Mutation_p.W758*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.W758*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.W758*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.W758*|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	758	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.W758*(6)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTGTTTCCTGGATACTATCA	0.313000													11	90					0	0	0.387290	0	0
CDH26	60437	broad.mit.edu	37	20	58567503	58567503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:58567503G>T	ENST00000348616.4	+	10	1654	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	CDH26_ENST00000244047.5_Nonsense_Mutation_p.E452*	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	452	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E452*(4)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CATCACCGTGGAGCCAATTGA	0.413000													14	72					4.14922e-12	5.5493e-12	0.500413	1	0
LYZL6	57151	broad.mit.edu	37	17	34263771	34263771	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:34263771C>A	ENST00000585556.1	-	4	699	c.365G>T	c.(364-366)gGg>gTg	p.G122V	LYZL6_ENST00000293274.4_Missense_Mutation_p.G122V|LYZL6_ENST00000394523.3_Missense_Mutation_p.G122V			O75951	LYZL6_HUMAN	lysozyme-like 6	122					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G122V(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTGTTCATCCCCCGTGCTCC	0.577000													39	163					3.78316e-11	4.83051e-11	0.819951	1	0
PRSS54	221191	broad.mit.edu	37	16	58314662	58314662	+	Splice_Site	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:58314662C>T	ENST00000219301.4	-	7	1049		c.e7-1		CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000543437.1_Splice_Site|CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000567164.1_Splice_Site	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54						proteolysis	extracellular region	serine-type endopeptidase activity	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGGGTCCCCCTGTGATAAAA	0.453000													30	48					0	0	0.740014	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076887	49076887	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:49076887C>A	ENST00000344532.3	-	11	1513	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S	RCBTB2_ENST00000430805.2_Missense_Mutation_p.A369S|RCBTB2_ENST00000544492.1_Missense_Mutation_p.A90S|RCBTB2_ENST00000544904.1_3'UTR	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	364							Ran guanyl-nucleotide exchange factor activity	p.A364S(2)		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)		CACGTGACGGCGGGCGTGGCA	0.592000													35	53					2.42023e-17	3.7208e-17	0.779181	1	0
MED12L	116931	broad.mit.edu	37	3	151134112	151134112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:151134112C>T	ENST00000474524.1	+	41	6243	c.6205C>T	c.(6205-6207)Cag>Tag	p.Q2069*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2069	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2069*(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			Gcagcagccccagcagcccca	0.527000													22	41					0	0	0.624587	0	0
ADCY8	114	broad.mit.edu	37	8	131964130	131964130	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:131964130G>C	ENST00000286355.5	-	3	3317	c.1225C>G	c.(1225-1227)Cgc>Ggc	p.R409G	ADCY8_ENST00000377928.3_Missense_Mutation_p.R409G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	409					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.R409G(2)		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)			TTCTCATAGCGATGGATGTAG	0.517000										HNSCC(32;0.087)			32	84					0	0	0.750413	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261202	21261202	+	Silent	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:21261202T>A	ENST00000311620.5	+	2	388	c.315T>A	c.(313-315)gcT>gcA	p.A105A		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	105								p.A105A(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGGATGCTGCTGCCAGCAGGG	0.542000													26	71					0	0	0.706142	0	0
LOC440040	440040	broad.mit.edu	37	11	49597803	49597803	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:49597803C>A	ENST00000527477.1	+	0	407																											CTAAAACGGTCCTTCTGTTGA	0.493000													8	55					0.00307968	0.00317136	0.278610	1	0
PIK3CG	5294	broad.mit.edu	37	7	106513259	106513259	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:106513259G>T	ENST00000359195.3	+	4	2473	c.2163G>T	c.(2161-2163)ctG>ctT	p.L721L	PIK3CG_ENST00000440650.2_Silent_p.L721L|PIK3CG_ENST00000496166.1_Silent_p.L721L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	721					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.L721L(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCCTATCTGAGGGGCTGTG	0.453000													40	107					3.38236e-24	5.84994e-24	0.827153	1	0
TRIML2	205860	broad.mit.edu	37	4	189020209	189020209	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:189020209C>A	ENST00000512729.1	-	4	825	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	TRIML2_ENST00000326754.3_Missense_Mutation_p.G151C|TRIML2_ENST00000536972.1_Missense_Mutation_p.G201C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	151							ligase activity	p.G151C(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCAAGGTGCCTTCCCCACAC	0.458000													27	94					7.92952e-12	1.0422e-11	0.667858	1	0
SNX13	23161	broad.mit.edu	37	7	17836453	17836453	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:17836453G>A	ENST00000409389.1	-	25	2828	c.2656C>T	c.(2656-2658)Cca>Tca	p.P886S	SNX13_ENST00000428135.3_Missense_Mutation_p.P875S|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	886					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CACTCACCTGGCATAATTGCA	0.353000													4	117					0	0	0.150653	0	0
ZAN	7455	broad.mit.edu	37	7	100373327	100373327	+	RNA	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:100373327C>A	ENST00000542585.1	+	0	6209				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.Q2021K(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGCCATCTCCCAGATCCCTGG	0.532000													8	76					7.48243e-07	8.30048e-07	0.335167	1	0
OR14I1	401994	broad.mit.edu	37	1	248845065	248845065	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:248845065G>A	ENST00000342623.3	-	1	564	c.541C>T	c.(541-543)Cat>Tat	p.H181Y		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H181Y(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GCCAACACATGAGGGATGTCA	0.502000													7	98					0	0	0.248553	0	0
ABCB9	23457	broad.mit.edu	37	12	123434340	123434340	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:123434340C>A	ENST00000542678.1	-	4	3680	c.842G>T	c.(841-843)cGc>cTc	p.R281L	ABCB9_ENST00000280560.8_Missense_Mutation_p.R281L|ABCB9_ENST00000442833.2_Missense_Mutation_p.R281L|ABCB9_ENST00000344275.7_Missense_Mutation_p.R281L|ABCB9_ENST00000346530.5_Missense_Mutation_p.R281L|ABCB9_ENST00000392439.3_Missense_Mutation_p.R281L|ABCB9_ENST00000540285.1_Missense_Mutation_p.R281L|ABCB9_ENST00000442028.2_Missense_Mutation_p.R281L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	281	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	p.R281L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCAACCTGTGCGGTTCTCATC	0.567000													53	78					2.13883e-14	3.05949e-14	0.870114	1	0
ADC	113451	broad.mit.edu	37	1	33562427	33562427	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:33562427C>T	ENST00000294517.6	+	9	1460	c.873C>T	c.(871-873)atC>atT	p.I291I	ADC_ENST00000373440.1_Silent_p.I133I|ADC_ENST00000398167.1_Silent_p.I291I|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Silent_p.I291I|ADC_ENST00000358680.3_Silent_p.I133I|ADC_ENST00000373443.3_Silent_p.I291I	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	291					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	p.I291I(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CAGTCAGCATCATTGCCAAGA	0.592000													36	136					0	0	0.804634	0	0
SLC44A5	204962	broad.mit.edu	37	1	75672394	75672394	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:75672394C>A	ENST00000370855.5	-	24	2171	c.2058G>T	c.(2056-2058)ctG>ctT	p.L686L	SLC44A5_ENST00000535611.1_Silent_p.L556L|SLC44A5_ENST00000370859.3_Intron	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	686						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.L686L(2)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CATTTCTTTCCAGATCTTCAC	0.413000													47	154					1.47857e-17	2.30573e-17	0.870114	1	0
LTBP2	4053	broad.mit.edu	37	14	74969481	74969481	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:74969481G>T	ENST00000261978.4	-	34	5431	c.5045C>A	c.(5044-5046)cCc>cAc	p.P1682H	LTBP2_ENST00000556690.1_Missense_Mutation_p.P1638H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1682					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P1682H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGTGTCCTCGGGGCCCAGGTA	0.632000													35	140					1.45844e-13	2.04773e-13	0.769981	1	0
FGFRL1	53834	broad.mit.edu	37	4	1018108	1018108	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:1018108G>T	ENST00000398484.2	+	7	1308	c.728G>T	c.(727-729)cGt>cTt	p.R243L	FGFRL1_ENST00000504138.1_Missense_Mutation_p.R243L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R243L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R243L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	243					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.R213L(2)|p.R243L(2)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAGCGGACCCGTTCCAAGCCC	0.711000													19	71					2.94398e-08	3.3945e-08	0.557998	1	0
ASTN1	460	broad.mit.edu	37	1	176927497	176927497	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:176927497C>G	ENST00000367654.2	-	10	1757	c.1744G>C	c.(1744-1746)Gat>Cat	p.D582H	ASTN1_ENST00000361833.2_Missense_Mutation_p.D574H|ASTN1_ENST00000367657.3_Missense_Mutation_p.D574H|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D574H			O14525	ASTN1_HUMAN	astrotactin 1	582					cell migration|neuron cell-cell adhesion	integral to membrane		p.D574H(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCACAGCATCCTCCATCACA	0.532000													34	86					0	0	0.788014	0	0
OR8D4	338662	broad.mit.edu	37	11	123777159	123777159	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:123777159C>T	ENST00000321355.2	+	1	51	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S7S(2)		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)		AAAACCATTCCACAGTGACTG	0.388000													27	94					0	0	0.681144	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141256	143141256	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:143141256C>G	ENST00000332690.1	+	1	711	c.711C>G	c.(709-711)ccC>ccG	p.P237P	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	237					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.P237P(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCCGAGAGCCCAGTGTGCAGG	0.483000													53	158					0	0	0.870114	0	0
OR14I1	401994	broad.mit.edu	37	1	248844970	248844970	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:248844970C>A	ENST00000342623.3	-	1	659	c.636G>T	c.(634-636)atG>atT	p.M212I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M212I(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGAGATCATCATGAGAATAA	0.493000													49	95					4.10826e-27	7.4261e-27	0.870114	1	0
UNC13A	23025	broad.mit.edu	37	19	17720837	17720837	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:17720837C>A	ENST00000428389.2	-	44	4986	c.4987G>T	c.(4987-4989)Ggg>Tgg	p.G1663W	UNC13A_ENST00000551649.1_Missense_Mutation_p.G1594W|UNC13A_ENST00000550896.1_Missense_Mutation_p.G1548W|UNC13A_ENST00000552293.1_Missense_Mutation_p.G1569W|UNC13A_ENST00000252773.7_Missense_Mutation_p.G1575W|UNC13A_ENST00000519716.2_Missense_Mutation_p.G1575W			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1575					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGCTGGGGCCCAATGATGTTG	0.522000													4	170					0.150653	0.15165	0.150653	1	0
FAM218A	152756	broad.mit.edu	37	4	165878351	165878351	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:165878351G>T	ENST00000513876.2	+	1	252	c.177G>T	c.(175-177)ttG>ttT	p.L59F	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN	family with sequence similarity 218, member A	59								p.L59F(2)									GTGTCTCTTTGCTCAGACATC	0.612000													5	24					5.4927e-09	6.51082e-09	0.307466	1	0
PLCG1	5335	broad.mit.edu	37	20	39801184	39801184	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:39801184G>T	ENST00000373272.2	+	26	3434	c.3029G>T	c.(3028-3030)cGc>cTc	p.R1010L	PLCG1_ENST00000244007.3_Missense_Mutation_p.R1010L|PLCG1_ENST00000373271.1_Missense_Mutation_p.R1010L|PLCG1_ENST00000461641.1_3'UTR	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1010	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	p.R1010L(2)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAGCTCTCCCGCATCTACCCC	0.542000													6	47					0.00116845	0.00121974	0.217242	1	0
LRP1B	53353	broad.mit.edu	37	2	140995750	140995750	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:140995750C>A	ENST00000389484.3	-	89	14502	c.13531G>T	c.(13531-13533)Gat>Tat	p.D4511Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4511					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D4511Y(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCCAGGATCTAAAAGACCT	0.373000										TSP Lung(27;0.18)			30	95					6.38683e-12	8.46756e-12	0.729181	1	0
MUC16	94025	broad.mit.edu	37	19	9020128	9020128	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:9020128A>T	ENST00000397910.4	-	21	37570	c.37367T>A	c.(37366-37368)gTg>gAg	p.V12456E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12458	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V12456E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGCATCCACTCCAGTGGC	0.517000													48	92					0	0	0.870114	0	0
PTPN13	5783	broad.mit.edu	37	4	87701591	87701591	+	Silent	SNP	T	T	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:87701591T>G	ENST00000436978.1	+	36	6423	c.5943T>G	c.(5941-5943)tcT>tcG	p.S1981S	PTPN13_ENST00000411767.2_Silent_p.S1976S|PTPN13_ENST00000316707.6_Silent_p.S1785S|PTPN13_ENST00000427191.2_Silent_p.S1957S|PTPN13_ENST00000511467.1_Silent_p.S1981S	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1976						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.S1981S(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAAAGAGGTCTGCTGTTTCAG	0.423000													4	25					0	0	0.184627	0	0
SATB2	23314	broad.mit.edu	37	2	200298195	200298195	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:200298195C>A	ENST00000417098.1	-	3	1028	c.212G>T	c.(211-213)gGc>gTc	p.G71V	SATB2_ENST00000260926.5_Missense_Mutation_p.G71V|SATB2_ENST00000457245.1_Missense_Mutation_p.G71V|SATB2_ENST00000428695.1_Missense_Mutation_p.G71V|SATB2_ENST00000443023.1_Intron	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	71						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.G71V(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCAAGAGAGCCGTCCAACTG	0.473000													36	120					4.65686e-17	7.08775e-17	0.788014	1	0
OR5T3	390154	broad.mit.edu	37	11	56020456	56020456	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:56020456G>C	ENST00000303059.3	+	1	781	c.781G>C	c.(781-783)Gct>Cct	p.A261P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A261P(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GATGCATTCTGCTAAGGGAAG	0.408000													76	252					0	0	0.870114	0	0
CENPK	64105	broad.mit.edu	37	5	64824289	64824289	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:64824289T>C	ENST00000396679.1	-	9	801	c.587A>G	c.(586-588)aAa>aGa	p.K196R	CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000508421.1_Missense_Mutation_p.K166R|CENPK_ENST00000510693.1_Missense_Mutation_p.K133R|CENPK_ENST00000242872.3_Missense_Mutation_p.K196R|CENPK_ENST00000514814.1_Missense_Mutation_p.K196R	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	196					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		p.K196R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		CTTTTTCTTTTTAACACTTCT	0.284000													12	33					0	0	0.457914	0	0
FHOD3	80206	broad.mit.edu	37	18	34349242	34349242	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:34349242T>A	ENST00000257209.4	+	24	4212	c.4090T>A	c.(4090-4092)Tgg>Agg	p.W1364R	FHOD3_ENST00000592128.1_Missense_Mutation_p.W343R|FHOD3_ENST00000591635.1_Missense_Mutation_p.W560R|FHOD3_ENST00000445677.1_Missense_Mutation_p.W1326R|FHOD3_ENST00000590592.1_Missense_Mutation_p.W1547R|FHOD3_ENST00000359247.4_Missense_Mutation_p.W1347R	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1347	DAD.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.W1364R(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTAGTTCCTGGACTATGGG	0.473000													36	59					0	0	0.819951	0	0
ITGAM	3684	broad.mit.edu	37	16	31309152	31309152	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:31309152G>T	ENST00000544665.3	+	14	1658	c.1587G>T	c.(1585-1587)ggG>ggT	p.G529G	ITGAM_ENST00000287497.8_Silent_p.G528G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	528					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.G528G(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAGTGCTGGGGGACGTAAATG	0.607000													32	118					1.61788e-16	2.42841e-16	0.760397	1	0
HHIPL1	84439	broad.mit.edu	37	14	100118631	100118631	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:100118631G>T	ENST00000330710.5	+	2	424	c.326G>T	c.(325-327)gGg>gTg	p.G109V	HHIPL1_ENST00000357223.2_Missense_Mutation_p.G109V	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	109					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	p.G109V(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACGGTGCCCGGGCTCTGCCAG	0.612000													31	81					3.80469e-20	6.19994e-20	0.740014	1	0
DGKG	1608	broad.mit.edu	37	3	185986600	185986600	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:185986600C>G	ENST00000265022.3	-	12	1645	c.1106G>C	c.(1105-1107)tGc>tCc	p.C369S	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.C369S|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	369					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.C369S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGTCATCCGGCACCACACGCA	0.607000													14	44					0	0	0.479597	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329238	88329238	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:88329238G>T	ENST00000325089.6	+	2	1814	c.1595G>T	c.(1594-1596)aGg>aTg	p.R532M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R291M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	532						integral to membrane		p.R532M(2)		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)					ACCCTCCTCAGGCTAAACCTG	0.527000													48	74					6.21074e-16	9.21321e-16	0.859065	1	0
SLC16A7	9194	broad.mit.edu	37	12	60098636	60098636	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:60098636G>C	ENST00000261187.4	+	2	218	c.54G>C	c.(52-54)tgG>tgC	p.W18C	SLC16A7_ENST00000552432.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000552024.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000549465.1_Missense_Mutation_p.W18C|SLC16A7_ENST00000547379.1_Missense_Mutation_p.W18C	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	18						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.W18C(2)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATGGAGGATGGGGTTGGATTG	0.433000													27	43					0	0	0.681144	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													4	86					0	0	0.150653	0	0
SYNE2	23224	broad.mit.edu	37	14	64483301	64483301	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:64483301G>T	ENST00000358025.3	+	33	5069	c.4839G>T	c.(4837-4839)gaG>gaT	p.E1613D	SYNE2_ENST00000344113.4_Missense_Mutation_p.E1613D|SYNE2_ENST00000554584.1_Missense_Mutation_p.E1613D|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1613					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E1613D(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTTTGAAGAGCCCCCTTTTG	0.284000													8	25					5.18039e-06	5.68871e-06	0.278610	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768509	31768509	+	Silent	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr21:31768509C>T	ENST00000355459.2	+	1	118	c.105C>T	c.(103-105)gtC>gtT	p.V35V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	35						intermediate filament		p.V35V(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAACCAGGTCTACAGCACTG	0.602000													42	133					0	0	0.847076	0	0
LPPR4	9890	broad.mit.edu	37	1	99772348	99772348	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:99772348A>T	ENST00000370185.3	+	7	2571	c.2074A>T	c.(2074-2076)Agc>Tgc	p.S692C	LPPR4_ENST00000370184.1_Missense_Mutation_p.S534C|LPPR4_ENST00000457765.1_Missense_Mutation_p.S634C	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		692							phosphatidate phosphatase activity	p.S692C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAACATTGATAGCAATGAGCA	0.507000													13	51					0	0	0.457914	0	0
CD1D	912	broad.mit.edu	37	1	158151904	158151904	+	Missense_Mutation	SNP	A	A	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:158151904A>T	ENST00000368171.3	+	4	910	c.411A>T	c.(409-411)caA>caT	p.Q137H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	137					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.Q137H(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TAGCATTTCAAGGAAAAGATA	0.512000													160	504					0	0	0.870114	0	0
CDH8	1006	broad.mit.edu	37	16	61851501	61851501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:61851501C>A	ENST00000577390.1	-	7	2113	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*	CDH8_ENST00000584337.1_Nonsense_Mutation_p.E387*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.E387*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.E387*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	387	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E387Q(2)|p.E387*(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACCGGAGGCTCATCAGCATCT	0.498000													47	102					5.7616e-29	1.05908e-28	0.870114	1	0
INSL4	3641	broad.mit.edu	37	9	5231684	5231684	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:5231684C>T	ENST00000239316.4	+	1	266	c.161C>T	c.(160-162)cCa>cTa	p.P54L		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	54					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	p.P54L(2)		endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		ACCACCACCCCAGGAGGGTGG	0.527000													39	44					0	0	0.834066	0	0
TTN	7273	broad.mit.edu	37	2	179427841	179427841	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:179427841G>A	ENST00000589042.1	-	326	83242	c.83018C>T	c.(83017-83019)cCa>cTa	p.P27673L	TTN_ENST00000460472.2_Missense_Mutation_p.P18608L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25105L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18733L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18800L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P26032L|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26032	Fibronectin type-III 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P18800L(2)|p.P25105L(2)|p.P18733L(2)|p.P25103L(2)|p.P18608L(2)		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)			TTCTATTTCTGGTGGCTCTAT	0.463000													72	224					0	0	0.870114	0	0
CAMTA1	23261	broad.mit.edu	37	1	7805036	7805036	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:7805036A>G	ENST00000303635.7	+	17	4531	c.4324A>G	c.(4324-4326)Agt>Ggt	p.S1442G	CAMTA1_ENST00000476864.1_Missense_Mutation_p.S6G|CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1442G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S1442G(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGGCTGGCCAGTTATCTAGC	0.517000			T	WWTR1	epitheliod hemangioendothelioma								24	103					0	0	0.681144	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631817	122631817	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:122631817G>T	ENST00000195173.4	-	18	2898	c.2595C>A	c.(2593-2595)tcC>tcA	p.S865S	SEMA5B_ENST00000357599.3_Silent_p.S866S|SEMA5B_ENST00000451055.2_Silent_p.S920S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	866	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.S920S(3)|p.S866S(3)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGCAGTCCCGGGAGCAGGACG	0.741000													7	33					0.00307968	0.00317136	0.278610	1	0
OBSCN	84033	broad.mit.edu	37	1	228509335	228509335	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:228509335G>C	ENST00000570156.2	+	66	17738	c.17664G>C	c.(17662-17664)tgG>tgC	p.W5888C	OBSCN_ENST00000366709.4_Missense_Mutation_p.W2050C|OBSCN_ENST00000366707.4_Missense_Mutation_p.W2565C|OBSCN_ENST00000422127.1_Missense_Mutation_p.W4931C|OBSCN_ENST00000284548.11_Missense_Mutation_p.W4931C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4931					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.W5513C(2)|p.W4931C(2)|p.W5643C(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCCCGCTGGCTGAAGGATG	0.637000													19	56					0	0	0.539581	0	0
PASD1	139135	broad.mit.edu	37	X	150840994	150840994	+	Missense_Mutation	SNP	G	G	T	rs147522572	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:150840994G>T	ENST00000370357.4	+	14	2022	c.1777G>T	c.(1777-1779)Gta>Tta	p.V593L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	593						nucleus	signal transducer activity	p.V593L(4)		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)					CCCACGTGACGTATCTGTGCC	0.527000													58	83					1.61742e-36	3.14796e-36	0.870114	1	0
FGB	2244	broad.mit.edu	37	4	155487128	155487128	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:155487128T>A	ENST00000302068.4	+	2	346	c.283T>A	c.(283-285)Tgt>Agt	p.C95S	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	95			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.C95S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGCTGGAGGCTGTCTTCACGC	0.552000													21	49					0	0	0.624587	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513999	1513999	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:1513999G>T	ENST00000421627.2	+	3	1275	c.1141G>T	c.(1141-1143)Gca>Tca	p.A381S	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	460					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.A425S(1)|p.A403S(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCAAAGTCGGCAATCCTACC	0.557000													9	13					1.76689e-08	2.05597e-08	0.335167	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745991	77745991	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:77745991C>A	ENST00000409088.3	-	3	1418	c.1004G>T	c.(1003-1005)aGc>aTc	p.S335I	LRRTM4_ENST00000409093.1_Missense_Mutation_p.S335I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S336I|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S335I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S336I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	335	LRRCT.					integral to membrane		p.S335I(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TATCATGGTGCTTTCCTTATT	0.393000													5	26					1.23904e-05	1.34127e-05	0.184627	1	0
GPC4	2239	broad.mit.edu	37	X	132439938	132439938	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:132439938C>A	ENST00000370828.3	-	6	1541	c.1017G>T	c.(1015-1017)caG>caT	p.Q339H	GPC4_ENST00000535467.1_Missense_Mutation_p.Q269H	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	339					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Q339H(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTCCACATCCCTGGAAAACCT	0.582000													154	262					1.27947e-65	2.61742e-65	0.870114	1	0
ZFAND2B	130617	broad.mit.edu	37	2	220073185	220073185	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:220073185G>A	ENST00000409097.1	+	7	622	c.565G>A	c.(565-567)Gtg>Atg	p.V189M	ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V189M|ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V189M|ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V189M|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.V189M			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	189						endoplasmic reticulum	protein binding|zinc ion binding	p.V189M(2)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCCTCCAGTGATTGCTTT	0.542000													21	151					0	0	0.624587	0	0
MFAP4	4239	broad.mit.edu	37	17	19288711	19288711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:19288711G>T	ENST00000395592.2	-	4	440	c.369C>A	c.(367-369)taC>taA	p.Y123*	MFAP4_ENST00000299610.4_Nonsense_Mutation_p.Y99*|MFAP4_ENST00000497081.2_Nonsense_Mutation_p.Y124*	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	99	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding	p.Y123*(2)|p.Y99*(2)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCCCAGCTTGTAGTCATTCC	0.572000													19	38					1.96292e-10	2.44883e-10	0.592651	1	0
SALL4	57167	broad.mit.edu	37	20	50407691	50407691	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:50407691T>A	ENST00000217086.4	-	2	1442	c.1331A>T	c.(1330-1332)gAg>gTg	p.E444V	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	444					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E444V(2)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCTGGAACTCGGCAAACAG	0.552000													47	77					0	0	0.870114	0	0
ASTN1	460	broad.mit.edu	37	1	176998824	176998824	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:176998824C>G	ENST00000367654.2	-	5	1079	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H	ASTN1_ENST00000361833.2_Missense_Mutation_p.D356H|ASTN1_ENST00000367657.3_Missense_Mutation_p.D356H|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D356H			O14525	ASTN1_HUMAN	astrotactin 1	356					cell migration|neuron cell-cell adhesion	integral to membrane		p.D356H(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCTGGGGGTCGTTTTCTGCC	0.507000													21	70					0	0	0.608945	0	0
C9orf64	84267	broad.mit.edu	37	9	86559805	86559805	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:86559805T>A	ENST00000376344.3	-	3	913	c.697A>T	c.(697-699)Agt>Tgt	p.S233C	C9orf64_ENST00000314700.1_Missense_Mutation_p.S92C	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	233								p.S233C(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATGGTGATACTGGAGATGTCC	0.428000													9	86					0	0	0.307466	0	0
OR51B2	79345	broad.mit.edu	37	11	5345155	5345155	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:5345155G>T	ENST00000328813.2	-	1	427	c.373C>A	c.(373-375)Cgc>Agc	p.R125S	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R125S(2)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGATTGCGGATGGCAATG	0.453000													34	55					8.4185e-14	1.18639e-13	0.760397	1	0
OR13H1	347468	broad.mit.edu	37	X	130678094	130678094	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:130678094G>T	ENST00000338616.3	+	1	145	c.47G>T	c.(46-48)gGc>gTc	p.G16V		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(2)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CTCCTTATTGGCATTTCTAAC	0.383000													27	122					1.77063e-15	2.59125e-15	0.693898	1	0
FSTL1	11167	broad.mit.edu	37	3	120129820	120129820	+	Missense_Mutation	SNP	C	C	T	rs149509930		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr3:120129820C>T	ENST00000295633.3	-	5	666	c.310G>A	c.(310-312)Gta>Ata	p.V104I	FSTL1_ENST00000424703.2_Missense_Mutation_p.V69I	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	104					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	p.V104I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GATGGACTTACGGATTTCTTC	0.393000													5	122					0	0	0.184627	0	0
MARCH1	55016	broad.mit.edu	37	4	164466875	164466875	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:164466875G>T	ENST00000503008.1	-	7	1420	c.444C>A	c.(442-444)acC>acA	p.T148T	MARCH1_ENST00000514618.1_Silent_p.T404T|MARCH1_ENST00000339875.5_Silent_p.T131T|MARCH1_ENST00000274056.7_Silent_p.T148T	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	148					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T148T(2)|p.T131T(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTCACTTGTGGTCATCTGTA	0.423000													33	89					3.99451e-17	6.10406e-17	0.740014	1	0
DDI1	414301	broad.mit.edu	37	11	103908255	103908255	+	Silent	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:103908255C>A	ENST00000302259.3	+	1	948	c.705C>A	c.(703-705)ccC>ccA	p.P235P	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	235					proteolysis		aspartic-type endopeptidase activity	p.P235P(6)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AAGAGGCCCCCGAGAGTTTTG	0.478000													49	181					4.10826e-27	7.4261e-27	0.870114	1	0
HCFC1	3054	broad.mit.edu	37	X	153227748	153227748	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chrX:153227748G>A	ENST00000310441.7	-	5	1688	c.722C>T	c.(721-723)aCg>aTg	p.T241M	HCFC1_ENST00000369984.4_Missense_Mutation_p.T241M|HCFC1_ENST00000354233.3_Missense_Mutation_p.T241M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	241					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.T142M(2)|p.T241M(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTATTCCACGTCAGGGTGTC	0.567000													14	27					0	0	0.457914	0	0
DOK2	9046	broad.mit.edu	37	8	21768283	21768283	+	Silent	SNP	C	C	G			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:21768283C>G	ENST00000276420.4	-	4	777	c.519G>C	c.(517-519)cgG>cgC	p.R173R	DOK2_ENST00000544659.1_Silent_p.R19R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	173	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.R173R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCTCCCCAGCCCGGAGGGTAT	0.642000													9	22					0	0	0.307466	0	0
NAA11	84779	broad.mit.edu	37	4	80246771	80246771	+	Silent	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:80246771G>T	ENST00000286794.4	-	1	433	c.261C>A	c.(259-261)gcC>gcA	p.A87A		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	87	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.A87A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCAGCTTCTGGGCCAGGCCGA	0.577000													30	102					7.26314e-15	1.05081e-14	0.717897	1	0
CYP11B2	1585	broad.mit.edu	37	8	143994002	143994002	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:143994002G>T	ENST00000323110.2	-	8	1344	c.1342C>A	c.(1342-1344)Cgc>Agc	p.R448S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	448					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.R448S(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGGCACTGGCGCATGCCAAAG	0.682000									Familial Hyperaldosteronism type I				27	166					9.78306e-22	1.63624e-21	0.740014	1	0
SEMA5A	9037	broad.mit.edu	37	5	9063152	9063152	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:9063152C>A	ENST00000382496.5	-	18	3030	c.2365G>T	c.(2365-2367)Gcc>Tcc	p.A789S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	789	TSP type-1 5.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.A789S(2)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GACGTCCAGGCTGACCAAGCC	0.582000													17	60					3.45872e-05	3.72289e-05	0.500413	1	0
PRDM14	63978	broad.mit.edu	37	8	70981552	70981552	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:70981552G>T	ENST00000276594.2	-	2	745	c.544C>A	c.(544-546)Ccc>Acc	p.P182T		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P182T(2)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GAGGGTTTGGGACCATCCTCT	0.577000													33	68					1.30897e-18	2.0796e-18	0.740014	1	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217055	53217055	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr13:53217055G>T	ENST00000342657.3	+	7	1501	c.428G>T	c.(427-429)gGc>gTc	p.G143V	HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.G143V|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.G143V	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	143	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	p.G143V(2)		cervix(1)|large_intestine(1)|lung(5)	7						CGAGGCAGTGGCAAGAAAAGG	0.408000													17	57					1.99824e-07	2.25952e-07	0.520397	1	0
SERPINB2	5055	broad.mit.edu	37	18	61570386	61570386	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr18:61570386G>T	ENST00000457692.1	+	9	1428	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	SERPINB2_ENST00000299502.4_Missense_Mutation_p.E365D	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	365					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.E365D(2)		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)	TGAATGAGGAGGGCACTGAAG	0.502000													18	65					7.45023e-12	9.82603e-12	0.592651	1	0
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													8	171	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:42050006_42050007insG	ENST00000372584.1	-	3	1476_1477	c.462_463insC	c.(460-465)ccaggafs	p.G155fs	HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTCCTCGGGGGGAATGA	0.604													7	435	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4470)tggfs	p.W1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCAGTATCTTGGGGGGCGACT	0.609													11	412	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-264)tccfs	p.S88fs	RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515													8	594	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)tatfs	p.Y69fs	PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCTTGAAATATCCCCCCAGTAC	0.381													9	981	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													10	243	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													19	360	---	---	---	---					
CLCA2	9635	broad.mit.edu	37	1	86921042	86921043	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:86921042_86921043insC	ENST00000370565.4	+	14	2826_2827	c.2664_2665insC	c.(2662-2667)atccccfs	p.IP888fs		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	888					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CTCTGTTTATTCCCCCCAATTC	0.396													10	480	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													33	616	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)acgfs	p.T187fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T172fs	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579													8	271	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559													15	282	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													22	472	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													10	575	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584150	145584151	+	Frame_Shift_Ins	INS	-	-	G	rs34574009		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:145584150_145584151insG	ENST00000393045.2	+	11	1391_1392	c.1301_1302insG	c.(1300-1302)cggfs	p.R434fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.R399fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	434					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCCCAGTCCAGGGGGGAGATC	0.495													7	384	---	---	---	---					
ECM1	1893	broad.mit.edu	37	1	150482150	150482151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:150482150_150482151insC	ENST00000369047.4	+	3	260_261	c.135_136insC	c.(133-138)gcccccfs	p.AP45fs	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Frame_Shift_Ins_p.AP45fs|ECM1_ENST00000369049.4_Frame_Shift_Ins_p.AP45fs	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	45					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTACGCAGCTCCCCCCTCCCC	0.584													8	822	---	---	---	---					
ARNT	405	broad.mit.edu	37	1	150784508	150784509	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:150784508_150784509insG	ENST00000358595.5	-	22	2558_2559	c.2358_2359insC	c.(2356-2361)cctttcfs	p.PF786fs	ARNT_ENST00000515192.1_Frame_Shift_Ins_p.PF772fs|ARNT_ENST00000505755.1_Frame_Shift_Ins_p.PF771fs|ARNT_ENST00000354396.2_Frame_Shift_Ins_p.PF784fs	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	786					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATTCTGAAAAGGGGGGAAACA	0.376			T	ETV6	AML								7	332	---	---	---	---					
POGZ	23126	broad.mit.edu	37	1	151377673	151377674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:151377673_151377674insT	ENST00000271715.2	-	19	4151_4152	c.3837_3838insA	c.(3835-3840)aaggaafs	p.E1280fs	POGZ_ENST00000368863.2_Frame_Shift_Ins_p.E1185fs|POGZ_ENST00000531094.1_Frame_Shift_Ins_p.E1218fs|POGZ_ENST00000491586.1_Frame_Shift_Ins_p.E1236fs|POGZ_ENST00000540984.1_Frame_Shift_Ins_p.E642fs|POGZ_ENST00000409503.1_Frame_Shift_Ins_p.E1271fs|POGZ_ENST00000361398.3_Frame_Shift_Ins_p.E1227fs|POGZ_ENST00000392723.1_Frame_Shift_Ins_p.E1227fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1280	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTCCTTCCATTTTTTATGCA	0.480													8	2159	---	---	---	---					
LCE2A	353139	broad.mit.edu	37	1	152671424	152671425	+	Frame_Shift_Ins	INS	-	-	C	rs138365632		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:152671424_152671425insC	ENST00000368779.1	+	2	98_99	c.47_48insC	c.(46-48)tccfs	p.S16fs		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	16	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCCAAGTGCCCCCCAAAAT	0.574													7	359	---	---	---	---					
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:153317810_153317811insC	ENST00000368739.3	-	4	533_534	c.175_176insG	c.(175-177)agafs	p.R59fs	PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589													7	999	---	---	---	---					
SLC39A1	27173	broad.mit.edu	37	1	153934780	153934781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:153934780_153934781insC	ENST00000368623.3	-	2	992_993	c.233_234insG	c.(232-234)ggtfs	p.G78fs	SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000537590.1_Intron			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	78						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCAAAAAGACGCCCCCCGCGAA	0.614													7	145	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				9	315	---	---	---	---					
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:154493907_154493908insC	ENST00000368482.4	+	6	1159_1160	c.321_322insC	c.(319-324)agccccfs	p.SP107fs	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	107	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.520													10	545	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155448996	155448996	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:155448996delT	ENST00000368346.3	-	3	4304	c.3665delA	c.(3664-3666)agfs	p.K1222fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.K1222fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1222					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGCCTCCTCTTTTTTTGCCC	0.413													7	655	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694022	156694023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:156694022_156694023insG	ENST00000313146.6	-	2	1647_1648	c.865_866insC	c.(865-867)caafs	p.Q289fs	ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.Q289fs|ISG20L2_ENST00000472824.1_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559													8	157	---	---	---	---					
ATP1A2	477	broad.mit.edu	37	1	160093110	160093111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:160093110_160093111insG	ENST00000361216.3	+	4	374_375	c.285_286insG	c.(283-288)ttggggfs	p.LG95fs	ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.LG95fs|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	95					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCAGCTTTTCGGGGGGTTCTC	0.604													12	974	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223	Guanylate cyclase 1.				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						AAATTAAAATTGGGGGGTGGTT	0.332													10	759	---	---	---	---					
FMO1	2326	broad.mit.edu	37	1	171227337	171227338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:171227337_171227338insG	ENST00000354841.4	+	1	242_243	c.111_112insG	c.(109-114)ctggggfs	p.LG37fs	FMO1_ENST00000402921.2_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Frame_Shift_Ins_p.LG37fs			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	37					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCGATGACCTTGGGGGGCTGTG	0.530													11	576	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:181549749_181549750insC	ENST00000526775.1	+	6	953_954	c.788_789insC	c.(787-789)gccfs	p.A263fs	CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505													7	1803	---	---	---	---					
FMOD	2331	broad.mit.edu	37	1	203316599	203316600	+	Frame_Shift_Ins	INS	-	-	C	rs139730140	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:203316599_203316600insC	ENST00000354955.4	-	2	1262_1263	c.799_800insG	c.(799-801)gccfs	p.A267fs	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	267					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGCTTGGGCGCCCCCCGGAAG	0.579													7	281	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													8	195	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													10	421	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)tggfs	p.W465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594													7	495	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	215821895	215821896	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:215821895_215821896insG	ENST00000366943.2	-	66	14942_14943	c.14556_14557insC	c.(14554-14559)cctgttfs	p.V4853fs	USH2A_ENST00000307340.3_Frame_Shift_Ins_p.V4853fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4853	Fibronectin type-III 34.				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)		TTGGGGAACATGGGGGGACTCC	0.540										HNSCC(13;0.011)			8	833	---	---	---	---					
SPATA17	128153	broad.mit.edu	37	1	217955584	217955584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:217955584delG	ENST00000366933.4	+	8	847	c.792delG	c.(790-792)gtfs	p.V264fs	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	264						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CGTTGCGGGTGGCAGAACCAA	0.448													108	160	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)gacfs	p.D304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACATCGTGGTGCCCCCCGACAT	0.589													7	233	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													9	700	---	---	---	---					
HEATR1	55127	broad.mit.edu	37	1	236719429	236719429	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:236719429delT	ENST00000366582.3	-	38	5599	c.5485delA	c.(5485-5487)ctfs	p.T1829fs	HEATR1_ENST00000366581.2_Frame_Shift_Del_p.T1748fs	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1829					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCTTGTAAGTTTTTTTGATG	0.438													8	548	---	---	---	---					
MSH6	2956	broad.mit.edu	37	2	48030796	48030797	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:48030796_48030797insG	ENST00000234420.4	+	5	3562_3563	c.3410_3411insG	c.(3409-3411)aggfs	p.R1137fs	MSH6_ENST00000538136.1_Frame_Shift_Ins_p.R835fs|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Frame_Shift_Ins_p.R1007fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1137					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGACCAAATATGGGGGGCAAGT	0.376			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	1687	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54125045	54125046	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:54125045_54125046insA	ENST00000404125.1	-	31	3622_3623	c.3567_3568insT	c.(3565-3570)ttttgafs	p.*1190fs	PSME4_ENST00000421748.2_Frame_Shift_Ins_p.*334fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1190					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGATTCTCAACAAAAAACCGTA	0.421													8	1555	---	---	---	---					
C2orf78	388960	broad.mit.edu	37	2	74042708	74042709	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:74042708_74042709insC	ENST00000409561.1	+	3	1479_1480	c.1358_1359insC	c.(1357-1359)cccfs	p.P453fs		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	453										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GATACTTACCTCCCCCCGATCT	0.460													10	326	---	---	---	---					
VWA3B	200403	broad.mit.edu	37	2	98914463	98914464	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:98914463_98914464insG	ENST00000477737.1	+	24	3455_3456	c.3251_3252insG	c.(3250-3252)gggfs	p.G1084fs	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1084										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATCACGCCTGTGGGGGGCGCCA	0.584													10	448	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)accfs	p.T267fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													9	168	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					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						AGGACATAACTGGGGGGGATGT	0.421													11	336	---	---	---	---					
RQCD1	9125	broad.mit.edu	37	2	219449363	219449364	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:219449363_219449364insT	ENST00000273064.6	+	4	724_725	c.349_350insT	c.(349-351)tttfs	p.F117fs	RQCD1_ENST00000542068.1_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000509807.2_Frame_Shift_Ins_p.F117fs|RQCD1_ENST00000295701.5_Frame_Shift_Ins_p.F117fs	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	117					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACATCCCACTTTTTTTGTAC	0.416													8	726	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													13	405	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	674	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggtfs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579													7	368	---	---	---	---					
FILIP1L	11259	broad.mit.edu	37	3	99568272	99568273	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:99568272_99568273insT	ENST00000331335.5	-	5	2717_2718	c.2247_2248insA	c.(2245-2250)aataaafs	p.NK749fs	FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs|CMSS1_ENST00000421999.2_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	749						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGCA	0.406													7	612	---	---	---	---					
TMEM45A	55076	broad.mit.edu	37	3	100287683	100287684	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:100287683_100287684insC	ENST00000403410.1	+	7	1274_1275	c.654_655insC	c.(652-657)taccccfs	p.YP218fs	TMEM45A_ENST00000323523.4_Frame_Shift_Ins_p.YP202fs			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	202						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TTGTCCTGTATCCCCCCAGTGG	0.366													8	698	---	---	---	---					
POLQ	10721	broad.mit.edu	37	3	121208241	121208242	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:121208241_121208242insT	ENST00000264233.5	-	16	3664_3665	c.3536_3537insA	c.(3535-3537)acafs	p.T1179fs		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1179					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAACATTCTGGTTTTTTGAACC	0.386								DNA polymerases (catalytic subunits)					7	846	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)cccfs	p.P384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604													13	373	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													11	475	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	150877785	150877786	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:150877785_150877786insC	ENST00000474524.1	+	7	1042_1043	c.1004_1005insC	c.(1003-1005)gccfs	p.A335fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.A335fs|MED12L_ENST00000422248.2_Frame_Shift_Ins_p.A335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAGCCCTGGCCCCCCCGGCC	0.584													9	154	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													8	468	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)catfs	p.H253fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTAGGATGGCCCCCCGCAAG	0.515													9	261	---	---	---	---					
GPR125	166647	broad.mit.edu	37	4	22390062	22390063	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:22390062_22390063insG	ENST00000334304.5	-	19	3500_3501	c.3231_3232insC	c.(3229-3234)ccactcfs	p.L1078fs	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1078					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCATTAGAGTTGGGGGGCTGGA	0.500													9	248	---	---	---	---					
PPARGC1A	10891	broad.mit.edu	37	4	23803479	23803479	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:23803479delG	ENST00000264867.2	-	12	2286	c.2167delC	c.(2167-2169)gtfs	p.R723fs	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	723	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CAGGTATAACGGTAGGTAATG	0.403													27	209	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)catfs	p.H464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515													7	341	---	---	---	---					
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:38691475_38691476insC	ENST00000261438.5	+	4	975_976	c.670_671insC	c.(670-672)cccfs	p.P224fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426													10	261	---	---	---	---					
ANKRD17	26057	broad.mit.edu	37	4	73956600	73956601	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:73956600_73956601insG	ENST00000358602.4	-	29	6860_6861	c.6744_6745insC	c.(6742-6747)cctaccfs	p.T2249fs	ANKRD17_ENST00000509867.2_Frame_Shift_Ins_p.T2136fs|ANKRD17_ENST00000330838.6_Frame_Shift_Ins_p.T1998fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2249					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAAATGGTAAGGGGGCACTGA	0.460													10	1544	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:79238582_79238583insC	ENST00000264895.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1881)accfs	p.T627fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	627					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574													12	281	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													17	976	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													12	769	---	---	---	---					
EGF	1950	broad.mit.edu	37	4	110909773	110909774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:110909773_110909774insC	ENST00000265171.5	+	18	3087_3088	c.2642_2643insC	c.(2641-2643)tccfs	p.S881fs	EGF_ENST00000509793.1_Frame_Shift_Ins_p.S839fs|EGF_ENST00000503392.1_Frame_Shift_Ins_p.S881fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	881	EGF-like 7; calcium-binding (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GTCCCAGTGTGCCCCCCTGCCT	0.470													8	868	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)gggfs	p.G3454fs	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455													7	215	---	---	---	---					
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)ggaatcfs	p.I1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391													7	565	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													13	640	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			9	1404	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187627867	187627868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:187627867_187627868insA	ENST00000441802.2	-	2	3323_3324	c.3114_3115insT	c.(3112-3117)gtaaaafs	p.VK1038fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1038	Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCCCCTTTTCCACAAAGCTGG	0.485										HNSCC(5;0.00058)			62	218	---	---	---	---					
CDH18	1016	broad.mit.edu	37	5	19747207	19747207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:19747207delG	ENST00000507958.1	-	6	1357	c.367delC	c.(367-369)acfs	p.H123fs	CDH18_ENST00000511273.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000382275.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000274170.4_Frame_Shift_Del_p.H123fs|CDH18_ENST00000502796.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000506372.1_Frame_Shift_Del_p.H123fs			Q13634	CAD18_HUMAN	cadherin 18, type 2	123	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H123N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGCACATAGTGGGTCTTCTGC	0.443													56	274	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													29	805	---	---	---	---					
C5orf42	65250	broad.mit.edu	37	5	37108532	37108533	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:37108532_37108533insT	ENST00000274258.7	-	51	9560_9561	c.5973_5974insA	c.(5971-5976)aaatggfs	p.W1992fs	C5orf42_ENST00000508244.1_Frame_Shift_Ins_p.W3094fs|C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.W3094fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3094										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCACTTCCATGTTTTTTTGTAT	0.431													9	721	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													9	219	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													13	288	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													11	95	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													7	313	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													19	1485	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:156915296_156915297insG	ENST00000257527.4	-	21	2604_2605	c.2526_2527insC	c.(2524-2529)cccaccfs	p.T843fs	ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564													7	293	---	---	---	---					
GABRA6	2559	broad.mit.edu	37	5	161116011	161116012	+	Frame_Shift_Ins	INS	-	-	G	rs143274925		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:161116011_161116012insG	ENST00000523217.1	+	4	494_495	c.252_253insG	c.(250-255)ttggggfs	p.LG84fs	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	94					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTGAAGTTTGGGGGGCCAAC	0.406										TCGA Ovarian(5;0.080)			8	378	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)cctfs	p.P526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515													7	1095	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													16	301	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													22	1917	---	---	---	---					
NOTCH4	4855	broad.mit.edu	37	6	32188294	32188295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:32188294_32188295insC	ENST00000375023.3	-	6	1184_1185	c.1046_1047insG	c.(1045-1047)gacfs	p.D349fs		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	349	EGF-like 8; 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						CACAGCTTGTGCCGCCCCAGCC	0.614													8	431	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													11	242	---	---	---	---					
KHDRBS2	202559	broad.mit.edu	37	6	62604601	62604602	+	Frame_Shift_Ins	INS	-	-	C	rs150391619	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:62604601_62604602insC	ENST00000281156.4	-	6	1026_1027	c.748_749insG	c.(748-750)accfs	p.T250fs		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	250	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CACTGTTGGTGCCCCCCGGGCT	0.540													7	237	---	---	---	---					
COPS5P1	135270	broad.mit.edu	37	6	93802032	93802032	+	RNA	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:93802032delG	ENST00000452624.1	+	0	144																											GTAGCCCTTTGGGTATGTTCT	0.408													61	87	---	---	---	---					
ENPP3	5169	broad.mit.edu	37	6	132006590	132006591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:132006590_132006591insC	ENST00000414305.1	+	14	1535_1536	c.1207_1208insC	c.(1207-1209)cccfs	p.P403fs	ENPP3_ENST00000357639.3_Frame_Shift_Ins_p.P403fs|ENPP3_ENST00000358229.5_Frame_Shift_Ins_p.P403fs			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	403	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGAAGGGCCTGCCCCCCGCATC	0.361													10	540	---	---	---	---					
AHI1	54806	broad.mit.edu	37	6	135784283	135784284	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:135784283_135784284insT	ENST00000367800.4	-	6	1126_1127	c.910_911insA	c.(910-912)aaafs	p.K304fs	AHI1_ENST00000457866.2_Frame_Shift_Ins_p.K304fs|AHI1_ENST00000327035.6_Frame_Shift_Ins_p.K304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	304						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307													7	263	---	---	---	---					
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1108-1113)aaccccfs	p.NP370fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	370					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.490													11	300	---	---	---	---					
TULP4	56995	broad.mit.edu	37	6	158900956	158900957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:158900956_158900957insC	ENST00000367097.3	+	7	2557_2558	c.1200_1201insC	c.(1198-1203)ctccccfs	p.LP400fs	TULP4_ENST00000367094.2_Frame_Shift_Ins_p.LP400fs	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	400	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R403fs*91(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCTGACTCTGCCCCCCCGCCT	0.644													8	118	---	---	---	---					
OSBPL3	26031	broad.mit.edu	37	7	24870394	24870395	+	Frame_Shift_Ins	INS	-	-	A	rs35793413		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:24870394_24870395insA	ENST00000313367.2	-	16	2327_2328	c.1876_1877insT	c.(1876-1878)agafs	p.R626fs	OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.R559fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	626					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TACCTGTTCTGAAAAAAACTGG	0.421													13	885	---	---	---	---					
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(571-576)gtccccfs	p.VP191fs	GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAGGACCGTGCCCCCCGACTT	0.564													9	388	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													9	440	---	---	---	---					
ZNF746	155061	broad.mit.edu	37	7	149191498	149191499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:149191498_149191499insC	ENST00000461958.2	-	2	316_317	c.120_121insG	c.(118-123)ggtggcfs	p.G41fs	ZNF746_ENST00000340622.3_Frame_Shift_Ins_p.G41fs|ZNF746_ENST00000458143.2_Frame_Shift_Ins_p.G41fs			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	41					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTCTCGGCCATCCCGGTTCGAC	0.594													45	132	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													8	767	---	---	---	---					
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1678-1683)gcccccfs	p.AP560fs	DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	560					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	373	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41834603	41834604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:41834603_41834604insC	ENST00000396930.3	-	8	1828_1829	c.1285_1286insG	c.(1285-1287)agtfs	p.S429fs	KAT6A_ENST00000265713.2_Frame_Shift_Ins_p.S429fs|KAT6A_ENST00000485568.1_Frame_Shift_Ins_p.S429fs|KAT6A_ENST00000406337.1_Frame_Shift_Ins_p.S429fs	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	429	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTCCACCACTTCCCCCCGAGCT	0.465													7	282	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													15	343	---	---	---	---					
PREX2	80243	broad.mit.edu	37	8	68992720	68992721	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:68992720_68992721insT	ENST00000288368.4	+	16	1962_1963	c.1685_1686insT	c.(1684-1686)cttfs	p.L562fs	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCGG	0.332													7	254	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-123)gggfs	p.G41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTCA	0.564													8	573	---	---	---	---					
STAU2	27067	broad.mit.edu	37	8	74507471	74507471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:74507471delT	ENST00000355780.5	-	10	1213	c.995delA	c.(994-996)atfs	p.N332fs	STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	364	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.N332fs*67(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTCTGCAGCATTTTTTTTGGC	0.328													7	368	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77761315	77761315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:77761315delC	ENST00000521891.2	+	7	4044	c.3596delC	c.(3595-3597)gafs	p.A1199fs	ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.A1154fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.A1154fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.A1173fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1154						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)			GAGGATGTTGCAACAAAAAGG	0.393										HNSCC(33;0.089)			25	92	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77775798	77775799	+	Frame_Shift_Ins	INS	-	-	G	rs146441632	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:77775798_77775799insG	ENST00000521891.2	+	11	10296_10297	c.9848_9849insG	c.(9847-9849)cggfs	p.R3283fs	ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.R3234fs|ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.R3238fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.R3257fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3234						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)			GGAACAGTGCAGGGGGGATACT	0.535										HNSCC(33;0.089)			9	556	---	---	---	---					
RP11-100L22.1	0	broad.mit.edu	37	8	93684625	93684626	+	RNA	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:93684625_93684626insC	ENST00000521307.1	+	0	80																											TCCTGCCCCCTCCCCCCAGAAA	0.431													3	4	---	---	---	---					
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1																						ACCACTGTGGTGGGGGGGAGTG	0.564													8	225	---	---	---	---					
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)tcafs	p.S7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535													11	573	---	---	---	---					
ERMP1	79956	broad.mit.edu	37	9	5801291	5801292	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:5801291_5801292insT	ENST00000339450.5	-	11	2040_2041	c.1951_1952insA	c.(1951-1953)catfs	p.H651fs	ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Frame_Shift_Ins_p.H229fs	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	651					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AGTTAGCATGGTTTTTTTTGTG	0.361													14	554	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4114_splice	c.e23-1	p.DP1372_splice	ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1372						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAGT	0.564													15	272	---	---	---	---					
UBAP2	55833	broad.mit.edu	37	9	33923478	33923479	+	Splice_Site	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:33923478_33923479insG	ENST00000379238.1	-	25	2914		c.e25-2		UBAP2_ENST00000379235.1_Splice_Site|UBAP2_ENST00000360802.1_Splice_Site|UBAP2_ENST00000449054.1_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGGAGGGACCTGGGGGGGCAAG	0.594													13	427	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													7	296	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													10	267	---	---	---	---					
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)ggafs	p.G132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564													9	1433	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													11	644	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135940095	135940095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:135940095delG	ENST00000372080.4	+	3	311	c.295delG	c.(295-297)ggfs	p.G99fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G96fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	96	Heparin-binding.				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAGCACCTACGGGGATGAAGA	0.602													11	33	---	---	---	---					
UCN3	114131	broad.mit.edu	37	10	5415727	5415728	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:5415727_5415728insG	ENST00000380433.3	+	2	272_273	c.44_45insG	c.(43-45)cggfs	p.R15fs		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	15						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						CTGCTGCTCCTGGGGGGCCCCA	0.639													9	469	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1453-1458)atccccfs	p.IP485fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	485					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.490													7	376	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)gaafs	p.E3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGTTCTGGGGGGCTGTG	0.450													11	612	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								19	652	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					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)				AAAGCTTTGAAGGGGGGGTGAA	0.371													14	340	---	---	---	---					
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)gaafs	p.E349fs	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401													9	463	---	---	---	---					
ARID5B	84159	broad.mit.edu	37	10	63759976	63759977	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:63759976_63759977insG	ENST00000279873.7	+	4	1039_1040	c.629_630insG	c.(628-630)cggfs	p.R210fs		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	210					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCATTGGCCCTGGGGGGCATTG	0.530													8	275	---	---	---	---					
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)gggfs	p.G233fs		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CGAGGACCTGTGGGGGGAGCCC	0.604													7	535	---	---	---	---					
LGI1	9211	broad.mit.edu	37	10	95552601	95552602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr10:95552601_95552602insC	ENST00000371418.4	+	6	865_866	c.605_606insC	c.(604-606)gccfs	p.A202fs	LGI1_ENST00000371413.3_Frame_Shift_Ins_p.A202fs|LGI1_ENST00000542308.1_Frame_Shift_Ins_p.A154fs	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	202	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TACTGCGAAGGCCCCCCAGAAT	0.421													7	562	---	---	---	---					
TRIM21	6737	broad.mit.edu	37	11	4409704	4409705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:4409704_4409705insT	ENST00000254436.7	-	4	672_673	c.560_561insA	c.(559-561)attfs	p.I187fs	TRIM21_ENST00000543625.1_Frame_Shift_Ins_p.I187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CAACCAGGAAGTTTTTTTGCTG	0.485													7	1033	---	---	---	---					
OR56A4	120793	broad.mit.edu	37	11	6023930	6023930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:6023930delG	ENST00000330728.4	-	1	494	c.449delC	c.(448-450)cafs	p.P150fs		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCAGGCTGGGAAGCTGAT	0.547													62	138	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6643491	6643491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:6643491delC	ENST00000299441.3	-	21	9827	c.9416delG	c.(9415-9417)gcfs	p.G3139fs	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3139					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGGCTTGCCATCTGCTGG	0.652													4	3	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					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						CATCCAAGGTACCCCCCCATGA	0.520													39	999	---	---	---	---					
LRRC4C	57689	broad.mit.edu	37	11	40137020	40137020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:40137020delC	ENST00000278198.2	-	2	2786	c.823delG	c.(823-825)cafs	p.A275fs	LRRC4C_ENST00000527150.1_Frame_Shift_Del_p.A275fs|LRRC4C_ENST00000530763.1_Frame_Shift_Del_p.A275fs|LRRC4C_ENST00000528697.1_Frame_Shift_Del_p.A275fs			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	275					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)				TTATTGTGTGCCAGGTTGATC	0.428													240	421	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													9	853	---	---	---	---					
OR4C46	119749	broad.mit.edu	37	11	51515689	51515690	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:51515689_51515690delGT	ENST00000328188.1	+	1	408_409	c.408_409delGT	c.(406-411)cagtfs	p.QC136fs		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCATGAACCAGTGTGTGTGTGC	0.480													8	801	---	---	---	---					
OR4C11	219429	broad.mit.edu	37	11	55371070	55371071	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:55371070_55371071insG	ENST00000302231.4	-	1	803_804	c.779_780insC	c.(778-780)cacfs	p.H260fs		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGAAAGTGGTCGGGGGGCGTGT	0.436													7	257	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													11	390	---	---	---	---					
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)gaafs	p.E132fs	ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897).	alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	AGGGGTTCTTGCCCCCCAGCTC	0.644													7	507	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								7	386	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89431572	89431573	+	RNA	INS	-	-	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:89431572_89431573insA	ENST00000532352.1	+	0	1859							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACGATTTTATCAACAGGCATGT	0.396													21	91	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													16	736	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													20	1583	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													14	1514	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													8	1375	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													12	347	---	---	---	---					
RAD51AP1	10635	broad.mit.edu	37	12	4665573	4665574	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:4665573_4665574insA	ENST00000228843.9	+	9	877_878	c.827_828insA	c.(826-828)caafs	p.Q276fs	RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000543041.1_Frame_Shift_Ins_p.Q141fs|RAD51AP1_ENST00000352618.4_Frame_Shift_Ins_p.Q259fs	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	276					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			CAGTCCTTGCCAAAAAAGGTTT	0.421													7	312	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)cccfs	p.P684fs	C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGAG	0.490													7	496	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													13	810	---	---	---	---					
RERG	85004	broad.mit.edu	37	12	15262411	15262412	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:15262411_15262412insC	ENST00000256953.2	-	5	568_569	c.232_233insG	c.(232-234)aggfs	p.R78fs	RERG_ENST00000538313.1_Frame_Shift_Ins_p.R78fs|RERG_ENST00000536465.1_Frame_Shift_Ins_p.R78fs|RERG_ENST00000546331.1_Frame_Shift_Ins_p.R59fs	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	78					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CACAAAGCCTTCCCCCCATCGC	0.460													7	1413	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													8	671	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													15	391	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								10	278	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													24	692	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													7	847	---	---	---	---					
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139																											GCTGGAAAGGACCCCCCCAATC	0.574													11	312	---	---	---	---					
TRAV19	28664	broad.mit.edu	37	14	22476138	22476141	+	RNA	DEL	AGGT	AGGT	-	rs34929909		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:22476138_22476141delAGGT	ENST00000390447.3	+	0	185_188																											ATGGCTCAGAAGGTAACTCAAGCG	0.412													12	68	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													8	674	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													13	437	---	---	---	---					
EML1	2009	broad.mit.edu	37	14	100367334	100367334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:100367334delT	ENST00000262233.6	+	9	1105	c.966delT	c.(964-966)ggfs	p.G322fs	EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs|EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	322						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTGGAATAGGTTTTTTTGACC	0.428													7	420	---	---	---	---					
WDR25	79446	broad.mit.edu	37	14	100934506	100934507	+	Splice_Site	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:100934506_100934507insT	ENST00000335290.6	+	3	1196		c.e3+1		WDR25_ENST00000554998.1_Splice_Site|WDR25_ENST00000542471.2_Splice_Site|WDR25_ENST00000402312.3_Splice_Site	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25											central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTTGAAACAGGTGCGTTTCTTG	0.629													18	109	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													22	133	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		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)		TCTCTCCTGGAGGGGGGGCTTC	0.500													10	394	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6705)gggfs	p.G2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584													7	381	---	---	---	---					
FAM81A	145773	broad.mit.edu	37	15	59808843	59808843	+	Splice_Site	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:59808843delG	ENST00000288228.5	+	8	973		c.e8-1			NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A											endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						ATGGATCTCAGGGAGCCAGTG	0.408													110	279	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24804808	24804809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:24804808_24804809insG	ENST00000395799.3	+	7	3319_3320	c.3190_3191insG	c.(3190-3192)gggfs	p.G1064fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.G1064fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1064	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGGTGAGCCCTGGGGGGAGCCT	0.520													7	223	---	---	---	---					
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(853-858)ctccccfs	p.LP285fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													8	97	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-114)tccfs	p.S38fs		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													49	1455	---	---	---	---					
SNTB2	6645	broad.mit.edu	37	16	69279579	69279580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:69279579_69279580insC	ENST00000336278.4	+	2	693_694	c.655_656insC	c.(655-657)cccfs	p.P219fs	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	219	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		GGAAGGTGCAGCCCCCCAGTCA	0.450													11	844	---	---	---	---					
ZNF23	7571	broad.mit.edu	37	16	71483561	71483562	+	Frame_Shift_Ins	INS	-	-	A	rs143301392	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:71483561_71483562insA	ENST00000393539.2	-	6	1179_1180	c.366_367insT	c.(364-369)ttgtcafs	p.LS122fs	ZNF23_ENST00000428724.2_Frame_Shift_Ins_p.LS64fs|ZNF23_ENST00000358700.2_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Frame_Shift_Ins_p.LS64fs|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Frame_Shift_Ins_p.LS122fs|ZNF23_ENST00000357254.4_Frame_Shift_Ins_p.LS122fs	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	122					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)		GAACTTTGACTAAAAAAACACT	0.441													7	347	---	---	---	---					
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:74525008_74525009insC	ENST00000422840.2	-	8	1338_1339	c.1339_1340insG	c.(1339-1341)gatfs	p.D447fs	GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs|GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	447						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTGTTCAATCTCCCCCCGACAG	0.515													8	408	---	---	---	---					
MON1B	22879	broad.mit.edu	37	16	77228315	77228316	+	Frame_Shift_Ins	INS	-	-	G	rs11544785	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:77228315_77228316insG	ENST00000248248.3	+	4	909_910	c.559_560insG	c.(559-561)gggfs	p.G187fs	MON1B_ENST00000439557.2_Frame_Shift_Ins_p.G78fs|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Frame_Shift_Ins_p.G41fs	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	187							protein binding	p.R187W(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						AGCCCAGCTGCGGGGGGAGCTG	0.599													8	597	---	---	---	---					
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)ggagcafs	p.A364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		TAATTGTGCTGCCCCCCCATAC	0.550													9	149	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577594	7577595	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:7577594_7577595delAC	ENST00000420246.2	-	7	818_819	c.686_687delGT	c.(685-687)tfs	p.C229fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C229fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	229	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.T230fs*9(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGATGGTGGTACAGTCAGAGCC	0.530		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			99	175	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:27001303_27001305delGAG	ENST00000314616.6	+	3	395_397	c.112_114delGAG	c.(112-114)del	p.E43del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	43	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453													7	201	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													21	486	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35487100	35487101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:35487100_35487101insC	ENST00000353139.5	-	46	6204_6205	c.5723_5724insG	c.(5722-5724)gatfs	p.D1908fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1871	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAATCTGGATGCCCCCCAGCTG	0.495													8	708	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													10	975	---	---	---	---					
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgc>t	p.CG96del	KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	96	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606													7	59	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)ggctcgfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604													7	241	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(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)			TTACCTTCCTGCCCCCCGTGTT	0.490													18	1164	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													23	1855	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9049102	9049103	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:9049102_9049103insA	ENST00000397910.4	-	5	32731_32732	c.32528_32529insT	c.(32527-32529)tcafs	p.S10843fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10845	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						ATTTACTATGGAAAAAAATGGA	0.490													9	1308	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9083007	9083008	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:9083007_9083008insT	ENST00000397910.4	-	1	9010_9011	c.8807_8808insA	c.(8806-8808)accfs	p.T2936fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2937	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						TTGCCCTTGGGTTTTTTTCTGG	0.480													7	489	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													9	233	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545													7	266	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													19	745	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													10	289	---	---	---	---					
PTPRA	5786	broad.mit.edu	37	20	2945550	2945550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:2945550delG	ENST00000216877.6	+	5	517	c.117delG	c.(115-117)acfs	p.T39fs	PTPRA_ENST00000380393.3_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000399903.2_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000356147.3_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000318266.5_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000425918.2_Frame_Shift_Del_p.T50fs	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	39					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTCATCAACGGCAGAACCAG	0.388													93	136	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													19	398	---	---	---	---					
BPIFB4	149954	broad.mit.edu	37	20	31671299	31671300	+	Frame_Shift_Ins	INS	-	-	G	rs113223716	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:31671299_31671300insG	ENST00000375483.3	+	3	296_297	c.296_297insG	c.(295-297)cggfs	p.R99fs		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	99						cytoplasm|extracellular region	lipid binding										ACTGCTCAGCTGGGGGGCAAAT	0.520													7	272	---	---	---	---					
RPN2	6185	broad.mit.edu	37	20	35860725	35860726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:35860725_35860726insC	ENST00000237530.6	+	14	1919_1920	c.1608_1609insC	c.(1606-1611)agccccfs	p.SP536fs	RPN2_ENST00000470352.1_Intron|RPN2_ENST00000373622.5_Frame_Shift_Ins_p.SP504fs	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	536					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGAAGAGGCCCCCCACCGT	0.574													8	836	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		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						TGTCAGTACCACCCCCCCACAT	0.446													11	128	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													15	379	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													49	1226	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													9	263	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													17	959	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													21	525	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													8	622	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													14	1144	---	---	---	---					
COL4A5	1287	broad.mit.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs104886321		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:107834821_107834822insC	ENST00000328300.6	+	21	1614_1615	c.1370_1371insC	c.(1369-1371)gccfs	p.A457fs	COL4A5_ENST00000361603.2_Frame_Shift_Ins_p.A457fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis				8	1540	---	---	---	---					
DCX	1641	broad.mit.edu	37	X	110644241	110644242	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:110644241_110644242insT	ENST00000338081.3	-	3	1095_1096	c.924_925insA	c.(922-927)aatctafs	p.NL308fs	DCX_ENST00000356220.3_Frame_Shift_Ins_p.NL227fs|DCX_ENST00000488120.1_Frame_Shift_Ins_p.NL227fs|DCX_ENST00000356915.2_Frame_Shift_Ins_p.NL227fs|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Frame_Shift_Ins_p.NL227fs	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	308	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGAGTGTAGAGTTTTTTGACAA	0.396													7	649	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129146962	129146963	+	Frame_Shift_Ins	INS	-	-	G	rs141901231	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:129146962_129146963insG	ENST00000540052.1	+	3	258_259	c.214_215insG	c.(214-216)gggfs	p.G72fs	BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.G72fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGAC	0.569													8	537	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700524	133700525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:133700524_133700525insG	ENST00000359237.4	-	3	473_474	c.188_189insC	c.(187-189)caafs	p.Q63fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	63					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GAACATGGTTTGGGGGGCAACC	0.510													10	400	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													19	522	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135426885	135426886	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	080c8d6b-3003-415a-a33d-8695a3011adb	g.chrX:135426885_135426886insA	ENST00000394143.1	+	6	1311_1312	c.1020_1021insA	c.(1018-1023)ataaaafs	p.IK340fs	GPR112_ENST00000370652.1_Frame_Shift_Ins_p.IK340fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.IK277fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.IK135fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.IK135fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	340					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAATTCCATGAAAAAAACGAA	0.386													9	885	---	---	---	---					
TEX35	84066	broad.mit.edu	37	1	178483316	178483316	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:178483316delC	ENST00000367642.3	+	2	265	c.194delC	c.(193-195)tcfs	p.S65fs	TEX35_ENST00000319416.2_Intron|TEX35_ENST00000258298.2_Intron|TEX35_ENST00000367643.3_Intron|TEX35_ENST00000367641.3_Intron|TEX35_ENST00000367639.1_Intron					testis expressed 35																		caagatttgtcccaggtgctg	0.502													7	35	---	---	---	---					
SPATA17	128153	broad.mit.edu	37	1	217955584	217955584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr1:217955584delG	ENST00000366933.4	+	8	847	c.792delG	c.(790-792)gtfs	p.V264fs	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	264						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CGTTGCGGGTGGCAGAACCAA	0.448													48	91	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187627867	187627868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr4:187627867_187627868insA	ENST00000441802.2	-	2	3323_3324	c.3114_3115insT	c.(3112-3117)gtaaaafs	p.VK1038fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1038	Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCCCCTTTTCCACAAAGCTGG	0.485										HNSCC(5;0.00058)			60	167	---	---	---	---					
CDH18	1016	broad.mit.edu	37	5	19747207	19747207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:19747207delG	ENST00000507958.1	-	6	1357	c.367delC	c.(367-369)acfs	p.H123fs	CDH18_ENST00000502796.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000274170.4_Frame_Shift_Del_p.H123fs|CDH18_ENST00000382275.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000511273.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000506372.1_Frame_Shift_Del_p.H123fs			Q13634	CAD18_HUMAN	cadherin 18, type 2	123	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H123N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGCACATAGTGGGTCTTCTGC	0.443													26	174	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													7	5	---	---	---	---					
COPS5P1	135270	broad.mit.edu	37	6	93802032	93802032	+	RNA	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr6:93802032delG	ENST00000452624.1	+	0	144																											GTAGCCCTTTGGGTATGTTCT	0.408													12	34	---	---	---	---					
ICA1	3382	broad.mit.edu	37	7	8196568	8196585	+	In_Frame_Del	DEL	AAAAAAAAAAAAAAAAAG	AAAAAAAAAAAAAAAAAG	-	rs139248933		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:8196568_8196585delAAAAAAAAAAAAAAAAAG	ENST00000407906.1	-	8	1216_1233	c.965_982delCTTTTTTTTTTTTTTTTT	c.(964-984)ttt>t	p.SFFFFFF322del	ICA1_ENST00000396675.3_Intron|ICA1_ENST00000422063.2_Intron|ICA1_ENST00000401396.1_Intron|ICA1_ENST00000406470.2_Intron|ICA1_ENST00000402384.3_Intron|ICA1_ENST00000265577.7_Intron			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	0					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)		GTaaaaaaaaaaaaaaaaaaaaaaaaagaaagaaagaa	0.372													4	8	---	---	---	---					
SND1	27044	broad.mit.edu	37	7	127714606	127714606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:127714606delT	ENST00000354725.3	+	17	2026	c.1832delT	c.(1831-1833)cgfs	p.L611fs		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	611	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ATCGGCTGGCTGCACATCGAC	0.627													7	39	---	---	---	---					
ZNF746	155061	broad.mit.edu	37	7	149191498	149191499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr7:149191498_149191499insC	ENST00000461958.2	-	2	316_317	c.120_121insG	c.(118-123)ggtggcfs	p.G41fs	ZNF746_ENST00000340622.3_Frame_Shift_Ins_p.G41fs|ZNF746_ENST00000458143.2_Frame_Shift_Ins_p.G41fs			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	41					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTCTCGGCCATCCCGGTTCGAC	0.594													44	186	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77761315	77761315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr8:77761315delC	ENST00000521891.2	+	7	4044	c.3596delC	c.(3595-3597)gafs	p.A1199fs	ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.A1154fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.A1173fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.A1154fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1154						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)			GAGGATGTTGCAACAAAAAGG	0.393										HNSCC(33;0.089)			4	4	---	---	---	---					
FKBP15	23307	broad.mit.edu	37	9	115932150	115932151	+	In_Frame_Ins	INS	-	-	TTC	rs113480096	by1000genomes	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:115932150_115932151insTTC	ENST00000238256.3	-	26	2955_2956	c.2838_2839insGAA	c.(2836-2841)gaaagc>gaGAAaagc	p.946_947ES>EKS		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	946					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						tcttctgctttttcttcttctt	0.525													6	4	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135940095	135940095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr9:135940095delG	ENST00000372080.4	+	3	311	c.295delG	c.(295-297)ggfs	p.G99fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G96fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	96	Heparin-binding.				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAGCACCTACGGGGATGAAGA	0.602													36	115	---	---	---	---					
OR56A4	120793	broad.mit.edu	37	11	6023930	6023930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:6023930delG	ENST00000330728.4	-	1	494	c.449delC	c.(448-450)cafs	p.P150fs		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCAGGCTGGGAAGCTGAT	0.547													36	71	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6643491	6643491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:6643491delC	ENST00000299441.3	-	21	9827	c.9416delG	c.(9415-9417)gcfs	p.G3139fs	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3139					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGGCTTGCCATCTGCTGG	0.652													6	13	---	---	---	---					
LRRC4C	57689	broad.mit.edu	37	11	40137020	40137020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:40137020delC	ENST00000278198.2	-	2	2786	c.823delG	c.(823-825)cafs	p.A275fs	LRRC4C_ENST00000527150.1_Frame_Shift_Del_p.A275fs|LRRC4C_ENST00000530763.1_Frame_Shift_Del_p.A275fs|LRRC4C_ENST00000528697.1_Frame_Shift_Del_p.A275fs			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	275					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)				TTATTGTGTGCCAGGTTGATC	0.428													52	126	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89431572	89431573	+	RNA	INS	-	-	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:89431572_89431573insA	ENST00000532352.1	+	0	1859							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACGATTTTATCAACAGGCATGT	0.396													38	150	---	---	---	---					
ALKBH8	91801	broad.mit.edu	37	11	107424656	107424661	+	In_Frame_Del	DEL	ACCATG	ACCATG	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr11:107424656_107424661delACCATG	ENST00000428149.2	-	4	562_567	c.411_416delCATGGT	c.(409-417)cta>ct	p.LMV137del	ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000417449.2_In_Frame_Del_p.LMV140del|ALKBH8_ENST00000389568.3_In_Frame_Del_p.LMV137del|ALKBH8_ENST00000429370.1_In_Frame_Del_p.LMV137del	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	137					response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TTCTTCTACTACCATGAGTCCTGGTG	0.364													8	57	---	---	---	---					
GOLGA2P5	55592	broad.mit.edu	37	12	100562920	100562921	+	RNA	INS	-	-	T	rs58822438		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr12:100562920_100562921insT	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						GGTCTCATTTGTTTTttttttt	0.406													3	3	---	---	---	---					
WDR25	79446	broad.mit.edu	37	14	100934506	100934507	+	Splice_Site	INS	-	-	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr14:100934506_100934507insT	ENST00000335290.6	+	3	1196		c.e3+1		WDR25_ENST00000554998.1_Splice_Site|WDR25_ENST00000402312.3_Splice_Site|WDR25_ENST00000542471.2_Splice_Site	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25											central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTTGAAACAGGTGCGTTTCTTG	0.629													37	150	---	---	---	---					
FAM81A	145773	broad.mit.edu	37	15	59808843	59808843	+	Splice_Site	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr15:59808843delG	ENST00000288228.5	+	8	973		c.e8-1			NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A											endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						ATGGATCTCAGGGAGCCAGTG	0.408													19	46	---	---	---	---					
CASKIN1	57524	broad.mit.edu	37	16	2236767	2236767	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr16:2236767delC	ENST00000343516.6	-	10	1081	c.989delG	c.(988-990)gcfs	p.G330fs		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	330	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCGGTCATTGCCCGTCCGGTT	0.672													26	78	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577594	7577595	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:7577594_7577595delAC	ENST00000420246.2	-	7	818_819	c.686_687delGT	c.(685-687)tfs	p.C229fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C229fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	229	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.T230fs*9(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGATGGTGGTACAGTCAGAGCC	0.530		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	47	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58064624	58064626	+	RNA	DEL	TTT	TTT	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr17:58064624_58064626delTTT	ENST00000586209.1	+	0	158																											ttTTTTGGTGTTTTTtttttttt	0.355													2	4	---	---	---	---					
LAMA3	3909	broad.mit.edu	37	18	21511088	21511089	+	Frame_Shift_Ins	INS	-	-	G	rs1154233	by1000genomes	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr18:21511088_21511089insG	ENST00000313654.9	+	65	8740_8741	c.8499_8500insG	c.(8497-8502)gggcccfs	p.P2834fs	LAMA3_ENST00000269217.6_Frame_Shift_Ins_p.P1225fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Frame_Shift_Ins_p.P1169fs|LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.P2778fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2834	Laminin G-like 3.		S -> G (in dbSNP:rs1154233).		cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGATAGCGGCAGCCCAATTTT	0.411													7	175	---	---	---	---					
PTPRA	5786	broad.mit.edu	37	20	2945550	2945550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	080c8d6b-3003-415a-a33d-8695a3011adb	g.chr20:2945550delG	ENST00000216877.6	+	5	517	c.117delG	c.(115-117)acfs	p.T39fs	PTPRA_ENST00000425918.2_Frame_Shift_Del_p.T50fs|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000356147.3_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000318266.5_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000399903.2_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000380393.3_Frame_Shift_Del_p.T39fs	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	39					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTCATCAACGGCAGAACCAG	0.388													36	68	---	---	---	---					
SPATA17	128153	broad.mit.edu	37	1	217955584	217955584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:217955584delG	ENST00000366933.4	+	8	847	c.792delG	c.(790-792)gtfs	p.V264fs	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	264						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CGTTGCGGGTGGCAGAACCAA	0.448													108	160	---	---	---	---					
EMILIN1	11117	broad.mit.edu	37	2	27301937	27301938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr2:27301937_27301938insC	ENST00000380320.4	+	1	503_504	c.4_5insC	c.(4-6)cccfs	p.P2fs		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	2					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCGCCATGGCCCCCCGCACC	0.703													2	4	---	---	---	---					
PPARGC1A	10891	broad.mit.edu	37	4	23803479	23803479	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:23803479delG	ENST00000264867.2	-	12	2286	c.2167delC	c.(2167-2169)gtfs	p.R723fs	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	723	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CAGGTATAACGGTAGGTAATG	0.403													27	209	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:186515043_186515044insC	ENST00000431808.1	-	20	3693_3694	c.3130_3131insG	c.(3130-3132)accfs	p.T1044fs	SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|RP11-301L8.2_ENST00000411847.1_RNA			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356													8	178	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187627867	187627868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:187627867_187627868insA	ENST00000441802.2	-	2	3323_3324	c.3114_3115insT	c.(3112-3117)gtaaaafs	p.VK1038fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1038	Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCCCCTTTTCCACAAAGCTGG	0.485										HNSCC(5;0.00058)			62	218	---	---	---	---					
CDH18	1016	broad.mit.edu	37	5	19747207	19747207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:19747207delG	ENST00000507958.1	-	6	1357	c.367delC	c.(367-369)acfs	p.H123fs	CDH18_ENST00000511273.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000382275.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000274170.4_Frame_Shift_Del_p.H123fs|CDH18_ENST00000502796.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000506372.1_Frame_Shift_Del_p.H123fs			Q13634	CAD18_HUMAN	cadherin 18, type 2	123	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H123N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGCACATAGTGGGTCTTCTGC	0.443													56	274	---	---	---	---					
COPS5P1	135270	broad.mit.edu	37	6	93802032	93802032	+	RNA	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:93802032delG	ENST00000452624.1	+	0	144																											GTAGCCCTTTGGGTATGTTCT	0.408													61	87	---	---	---	---					
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agt>ag	p.SS745del	EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562													7	406	---	---	---	---					
LOC153910	153910	broad.mit.edu	37	6	142850758	142850759	+	RNA	INS	-	-	T	rs71683237		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:142850758_142850759insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttctttctttgttttttttttt	0.381													4	3	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100371476	100371477	+	RNA	INS	-	-	G	rs148800656	by1000genomes	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:100371476_100371477insG	ENST00000542585.1	+	0	5914				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTCCGTTTCGGGCCTCAG	0.624													10	9	---	---	---	---					
ZNF746	155061	broad.mit.edu	37	7	149191498	149191499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:149191498_149191499insC	ENST00000461958.2	-	2	316_317	c.120_121insG	c.(118-123)ggtggcfs	p.G41fs	ZNF746_ENST00000458143.2_Frame_Shift_Ins_p.G41fs|ZNF746_ENST00000340622.3_Frame_Shift_Ins_p.G41fs			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	41					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTCTCGGCCATCCCGGTTCGAC	0.594													45	132	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77761315	77761315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:77761315delC	ENST00000521891.2	+	7	4044	c.3596delC	c.(3595-3597)gafs	p.A1199fs	ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.A1154fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.A1173fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.A1154fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1154						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)			GAGGATGTTGCAACAAAAAGG	0.393										HNSCC(33;0.089)			25	92	---	---	---	---					
RP11-100L22.1	0	broad.mit.edu	37	8	93684625	93684626	+	RNA	INS	-	-	C			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:93684625_93684626insC	ENST00000521307.1	+	0	80																											TCCTGCCCCCTCCCCCCAGAAA	0.431													3	4	---	---	---	---					
LOC401478	401478	broad.mit.edu	37	8	139076486	139076486	+	RNA	DEL	A	A	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:139076486delA	ENST00000518973.1	-	0	514				RP11-489O18.1_ENST00000521793.1_lincRNA																							TTACCCATATAAGCAGGGCCA	0.502													2	4	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135940095	135940095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:135940095delG	ENST00000372080.4	+	3	311	c.295delG	c.(295-297)ggfs	p.G99fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G96fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	96	Heparin-binding.				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAGCACCTACGGGGATGAAGA	0.602													11	33	---	---	---	---					
OR56A4	120793	broad.mit.edu	37	11	6023930	6023930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:6023930delG	ENST00000330728.4	-	1	494	c.449delC	c.(448-450)cafs	p.P150fs		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCAGGCTGGGAAGCTGAT	0.547													62	138	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6643491	6643491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:6643491delC	ENST00000299441.3	-	21	9827	c.9416delG	c.(9415-9417)gcfs	p.G3139fs	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3139					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGGCTTGCCATCTGCTGG	0.652													4	3	---	---	---	---					
LRRC4C	57689	broad.mit.edu	37	11	40137020	40137020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:40137020delC	ENST00000278198.2	-	2	2786	c.823delG	c.(823-825)cafs	p.A275fs	LRRC4C_ENST00000530763.1_Frame_Shift_Del_p.A275fs|LRRC4C_ENST00000528697.1_Frame_Shift_Del_p.A275fs|LRRC4C_ENST00000527150.1_Frame_Shift_Del_p.A275fs			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	275					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)				TTATTGTGTGCCAGGTTGATC	0.428													240	421	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89431572	89431573	+	RNA	INS	-	-	A			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:89431572_89431573insA	ENST00000532352.1	+	0	1859							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACGATTTTATCAACAGGCATGT	0.396													21	91	---	---	---	---					
OAS1	4938	broad.mit.edu	37	12	113369716	113369716	+	Frame_Shift_Del	DEL	A	A	-	rs112941238		TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr12:113369716delA	ENST00000551241.1	+	6	1105	c.1072delA	c.(1072-1074)ccfs	p.T358fs	RP1-71H24.1_ENST00000552784.1_RNA			P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	0					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						AAGGAACTATACCAATAATTA	0.453													35	5	---	---	---	---					
WDR25	79446	broad.mit.edu	37	14	100934506	100934507	+	Splice_Site	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:100934506_100934507insT	ENST00000335290.6	+	3	1196		c.e3+1		WDR25_ENST00000554998.1_Splice_Site|WDR25_ENST00000542471.2_Splice_Site|WDR25_ENST00000402312.3_Splice_Site	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25											central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTTGAAACAGGTGCGTTTCTTG	0.629													18	109	---	---	---	---					
FAM81A	145773	broad.mit.edu	37	15	59808843	59808843	+	Splice_Site	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:59808843delG	ENST00000288228.5	+	8	973		c.e8-1			NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A											endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						ATGGATCTCAGGGAGCCAGTG	0.408													110	279	---	---	---	---					
MON1B	22879	broad.mit.edu	37	16	77228315	77228316	+	Frame_Shift_Ins	INS	-	-	G	rs11544785	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:77228315_77228316insG	ENST00000248248.3	+	4	909_910	c.559_560insG	c.(559-561)gggfs	p.G187fs	MON1B_ENST00000545553.1_Frame_Shift_Ins_p.G41fs|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Frame_Shift_Ins_p.G78fs	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	187							protein binding	p.R187W(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						AGCCCAGCTGCGGGGGGAGCTG	0.599													8	597	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577594	7577595	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:7577594_7577595delAC	ENST00000420246.2	-	7	818_819	c.686_687delGT	c.(685-687)tfs	p.C229fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	229	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.T230fs*9(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGATGGTGGTACAGTCAGAGCC	0.530		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			99	175	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9083007	9083008	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:9083007_9083008insT	ENST00000397910.4	-	1	9010_9011	c.8807_8808insA	c.(8806-8808)accfs	p.T2936fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2937	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						TTGCCCTTGGGTTTTTTTCTGG	0.480													7	489	---	---	---	---					
PTPRA	5786	broad.mit.edu	37	20	2945550	2945550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:2945550delG	ENST00000216877.6	+	5	517	c.117delG	c.(115-117)acfs	p.T39fs	PTPRA_ENST00000318266.5_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000399903.2_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000356147.3_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000380393.3_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000425918.2_Frame_Shift_Del_p.T50fs	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	39					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTCATCAACGGCAGAACCAG	0.388													93	136	---	---	---	---					
BPIFB4	149954	broad.mit.edu	37	20	31671299	31671300	+	Frame_Shift_Ins	INS	-	-	G	rs113223716	byFrequency	TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:31671299_31671300insG	ENST00000375483.3	+	3	296_297	c.296_297insG	c.(295-297)cggfs	p.R99fs		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	99						cytoplasm|extracellular region	lipid binding										ACTGCTCAGCTGGGGGGCAAAT	0.520													7	272	---	---	---	---					
LINC01524	101927700	broad.mit.edu	37	20	51068911	51068913	+	RNA	DEL	CAG	CAG	-			TCGA-64-1676-01A-01W-0928-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4cbc6ac-d090-49e2-a2eb-236122abe999	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:51068911_51068913delCAG	ENST00000414598.1	-	0	195_197																											AGTTTGGAACCAGCAGCAGCAGC	0.448													2	4	---	---	---	---					
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)del	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578													8	276	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs1970328	byFrequency	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENST00000331860.3	+	3	460_483	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)del	p.PGYTKVPE104del	SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	104	14 X 8 AA approximate tandem repeats.		Missing.		keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		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)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567													16	196	---	---	---	---					
TEX35	84066	broad.mit.edu	37	1	178483316	178483316	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:178483316delC	ENST00000367642.3	+	2	265	c.194delC	c.(193-195)tcfs	p.S65fs	TEX35_ENST00000367641.3_Intron|TEX35_ENST00000367639.1_Intron|TEX35_ENST00000367643.3_Intron|TEX35_ENST00000258298.2_Intron|TEX35_ENST00000319416.2_Intron					testis expressed 35																		caagatttgtcccaggtgctg	0.502													7	35	---	---	---	---					
SPATA17	128153	broad.mit.edu	37	1	217955584	217955584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr1:217955584delG	ENST00000366933.4	+	8	847	c.792delG	c.(790-792)gtfs	p.V264fs	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	264						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CGTTGCGGGTGGCAGAACCAA	0.448													48	91	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187627867	187627868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr4:187627867_187627868insA	ENST00000441802.2	-	2	3323_3324	c.3114_3115insT	c.(3112-3117)gtaaaafs	p.VK1038fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1038	Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCCCCTTTTCCACAAAGCTGG	0.485										HNSCC(5;0.00058)			60	167	---	---	---	---					
CDH18	1016	broad.mit.edu	37	5	19747207	19747207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr5:19747207delG	ENST00000507958.1	-	6	1357	c.367delC	c.(367-369)acfs	p.H123fs	CDH18_ENST00000511273.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000502796.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000382275.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000506372.1_Frame_Shift_Del_p.H123fs|CDH18_ENST00000274170.4_Frame_Shift_Del_p.H123fs			Q13634	CAD18_HUMAN	cadherin 18, type 2	123	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H123N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGCACATAGTGGGTCTTCTGC	0.443													26	174	---	---	---	---					
COPS5P1	135270	broad.mit.edu	37	6	93802032	93802032	+	RNA	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr6:93802032delG	ENST00000452624.1	+	0	144																											GTAGCCCTTTGGGTATGTTCT	0.408													12	34	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													11	77	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100371476	100371477	+	RNA	INS	-	-	G	rs148800656	by1000genomes	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:100371476_100371477insG	ENST00000542585.1	+	0	5914				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTCCGTTTCGGGCCTCAG	0.624													11	15	---	---	---	---					
SND1	27044	broad.mit.edu	37	7	127714606	127714606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:127714606delT	ENST00000354725.3	+	17	2026	c.1832delT	c.(1831-1833)cgfs	p.L611fs		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	611	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ATCGGCTGGCTGCACATCGAC	0.627													7	39	---	---	---	---					
ZNF746	155061	broad.mit.edu	37	7	149191498	149191499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr7:149191498_149191499insC	ENST00000461958.2	-	2	316_317	c.120_121insG	c.(118-123)ggtggcfs	p.G41fs	ZNF746_ENST00000458143.2_Frame_Shift_Ins_p.G41fs|ZNF746_ENST00000340622.3_Frame_Shift_Ins_p.G41fs			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	41					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTCTCGGCCATCCCGGTTCGAC	0.594													44	186	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77761315	77761315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr8:77761315delC	ENST00000521891.2	+	7	4044	c.3596delC	c.(3595-3597)gafs	p.A1199fs	ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.A1154fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.A1173fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.A1154fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1154						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)			GAGGATGTTGCAACAAAAAGG	0.393										HNSCC(33;0.089)			4	4	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													9	14	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135940095	135940095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr9:135940095delG	ENST00000372080.4	+	3	311	c.295delG	c.(295-297)ggfs	p.G99fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G96fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	96	Heparin-binding.				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAGCACCTACGGGGATGAAGA	0.602													36	115	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs138084841	by1000genomes	TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>AGGAGGggg	p.428_429insRR	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619													6	11	---	---	---	---					
OR56A4	120793	broad.mit.edu	37	11	6023930	6023930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:6023930delG	ENST00000330728.4	-	1	494	c.449delC	c.(448-450)cafs	p.P150fs		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCAGGCTGGGAAGCTGAT	0.547													36	71	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6643491	6643491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:6643491delC	ENST00000299441.3	-	21	9827	c.9416delG	c.(9415-9417)gcfs	p.G3139fs	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3139					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGGCTTGCCATCTGCTGG	0.652													6	13	---	---	---	---					
LRRC4C	57689	broad.mit.edu	37	11	40137020	40137020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:40137020delC	ENST00000278198.2	-	2	2786	c.823delG	c.(823-825)cafs	p.A275fs	LRRC4C_ENST00000530763.1_Frame_Shift_Del_p.A275fs|LRRC4C_ENST00000528697.1_Frame_Shift_Del_p.A275fs|LRRC4C_ENST00000527150.1_Frame_Shift_Del_p.A275fs			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	275					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)				TTATTGTGTGCCAGGTTGATC	0.428													52	126	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89431572	89431573	+	RNA	INS	-	-	A			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:89431572_89431573insA	ENST00000532352.1	+	0	1859							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACGATTTTATCAACAGGCATGT	0.396													38	150	---	---	---	---					
ALKBH8	91801	broad.mit.edu	37	11	107424656	107424661	+	In_Frame_Del	DEL	ACCATG	ACCATG	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr11:107424656_107424661delACCATG	ENST00000428149.2	-	4	562_567	c.411_416delCATGGT	c.(409-417)cta>ct	p.LMV137del	ALKBH8_ENST00000429370.1_In_Frame_Del_p.LMV137del|ALKBH8_ENST00000389568.3_In_Frame_Del_p.LMV137del|ALKBH8_ENST00000417449.2_In_Frame_Del_p.LMV140del|ALKBH8_ENST00000530933.1_5'UTR	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	137					response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TTCTTCTACTACCATGAGTCCTGGTG	0.364													8	57	---	---	---	---					
WDR25	79446	broad.mit.edu	37	14	100934506	100934507	+	Splice_Site	INS	-	-	T			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr14:100934506_100934507insT	ENST00000335290.6	+	3	1196		c.e3+1		WDR25_ENST00000554998.1_Splice_Site|WDR25_ENST00000542471.2_Splice_Site|WDR25_ENST00000402312.3_Splice_Site	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25											central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTTGAAACAGGTGCGTTTCTTG	0.629													37	150	---	---	---	---					
FAM81A	145773	broad.mit.edu	37	15	59808843	59808843	+	Splice_Site	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:59808843delG	ENST00000288228.5	+	8	973		c.e8-1			NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A											endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						ATGGATCTCAGGGAGCCAGTG	0.408													19	46	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249																											TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586													6	12	---	---	---	---					
CASKIN1	57524	broad.mit.edu	37	16	2236767	2236767	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:2236767delC	ENST00000343516.6	-	10	1081	c.989delG	c.(988-990)gcfs	p.G330fs		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	330	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCGGTCATTGCCCGTCCGGTT	0.672													26	78	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													7	382	---	---	---	---					
KNOP1	400506	broad.mit.edu	37	16	19725706	19725706	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:19725706delT	ENST00000219837.7	-	2	730	c.652delA	c.(652-654)tcfs	p.I218fs	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1									p.I218fs*41(1)									TCCTGGTGGATTTTTTTTTTC	0.532													7	152	---	---	---	---					
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183625	+	RNA	DEL	T	T	-	rs11296516		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr16:81183625delT	ENST00000533478.1	-	0	2609				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACttttttttttt	0.468													3	5	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577594	7577595	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:7577594_7577595delAC	ENST00000420246.2	-	7	818_819	c.686_687delGT	c.(685-687)tfs	p.C229fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.C229fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	229	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.T230fs*9(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGATGGTGGTACAGTCAGAGCC	0.530		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	47	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													14	61	---	---	---	---					
LILRB5	10990	broad.mit.edu	37	19	54754838	54754839	+	Frame_Shift_Ins	INS	-	-	G	rs11375503		TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr19:54754838_54754839insG	ENST00000450632.1	-	13	1873_1874	c.1796_1797insC	c.(1795-1797)cccfs	p.P599fs	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	424					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604													8	32	---	---	---	---					
PTPRA	5786	broad.mit.edu	37	20	2945550	2945550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-1676-01A-01D-0969-08	TCGA-64-1676-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12a3245e-f3d7-470a-a755-3160de5cd48a	dbf7a6e8-0840-4ba2-a4e1-8c1d3a029b20	g.chr20:2945550delG	ENST00000216877.6	+	5	517	c.117delG	c.(115-117)acfs	p.T39fs	PTPRA_ENST00000380393.3_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000399903.2_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000425918.2_Frame_Shift_Del_p.T50fs|PTPRA_ENST00000318266.5_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000356147.3_Frame_Shift_Del_p.T39fs|PTPRA_ENST00000358719.4_5'UTR	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	39					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTCATCAACGGCAGAACCAG	0.388													36	68	---	---	---	---					
